Reviewed, UniProtKB/Swiss-Prot P21802 (FGFR2_HUMAN)

Names and origin

Protein names

Recommended name:
    Fibroblast growth factor receptor 2
      Short name=FGFR-2
    EC=2.7.10.1
Alternative name(s):
    Keratinocyte growth factor receptor
    K-sam
    CD_antigen=CD332

Gene names

Name:	FGFR2
Synonyms:	BEK, KGFR, KSAM

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	821 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Receptor for acidic and basic fibroblast growth factors.
Catalytic activity	ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
Subcellular location	Cell membrane; Single-pass type I membrane protein. Isoform 14: Secreted. Isoform 19: Secreted.
Involvement in disease	Defects in FGFR2 are the cause of Crouzon syndrome (CS) [MIM:123500]; also called craniofacial dysostosis type I (CFD1). CS is an autosomal dominant syndrome characterized by craniosynostosis (premature fusion of the skull sutures), hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. Ref.10 Ref.21 Ref.29 Ref.30 Ref.31 Ref.32 Ref.36 Ref.37 Ref.38 Ref.42 Ref.43 Ref.44 Ref.45 Ref.49 Ref.52 Ref.55 Ref.56 Defects in FGFR2 are a cause of Jackson-Weiss syndrome (JWS) [MIM:123150]. JWS is an autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence. Ref.30 Ref.32 Ref.36 Ref.44 Ref.41 Defects in FGFR2 are a cause of Apert syndrome (APRS) [MIM:101200]; also known as acrocephalosyndactyly type 1 (ACS1). APRS is a syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations. Ref.42 Ref.44 Ref.56 Ref.18 Ref.26 Ref.34 Ref.46 Defects in FGFR2 are a cause of Pfeiffer syndrome (PS) [MIM:101600]; also known as acrocephalosyndactyly type V (ACS5). PS is characterized by craniosynostosis (premature fusion of the skull sutures) with deviation and enlargement of the thumbs and great toes, brachymesophalangy, with phalangeal ankylosis and a varying degree of soft tissue syndactyly. Three subtypes of Pfeiffer syndrome have been described: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3). Ref.36 Ref.42 Ref.52 Ref.56 Ref.33 Ref.35 Ref.40 Ref.47 Ref.48 Ref.50 Ref.51 Defects in FGFR2 are the cause of Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790]. BSCGS is an autosomal dominant condition is characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Ref.39 Ref.57 Defects in FGFR2 are the cause of familial scaphocephaly syndrome (FSPC) [MIM:609579]; also known as scaphocephaly with maxillary retrusion and mental retardation. FSPC is an autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation. Ref.58 Defects in FGFR2 are a cause of lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]; also known as Levy-Hollister syndrome. LADDS is a form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. LADDS is an autosomal dominant syndrome characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. Ref.59 Defects in FGFR2 are the cause of Antley-Bixler syndrome (ABS) [MIM:207410]. ABS is a multiple congenital anomaly syndrome characterized by craniosynostosis, radiohumeral synostosis, midface hypoplasia, malformed ears, arachnodactyly and multiple joint contractures. ABS is a heterogeneous disorder and occurs with and without abnormal genitalia in both sexes. Ref.54
Sequence similarities	Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 protein kinase domain.

Ontologies

Keywords
Cellular component	Cell membrane Membrane Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Craniosynostosis Disease mutation Ectodermal dysplasia Lacrimo-auriculo-dento-digital syndrome
Domain	Immunoglobulin domain Repeat Signal Transmembrane
Ligand	ATP-binding Heparin-binding Nucleotide-binding
Molecular function	Kinase Receptor Transferase Tyrosine-protein kinase
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	cell growth Ref.19 Non-traceable author statement. Source: UniProtKB fibroblast growth factor receptor signaling pathway Ref.23 Inferred from genetic interaction. Source: MGI positive regulation of cell proliferation Inferred from genetic interaction. Source: MGI protein amino acid phosphorylation Ref.1 Non-traceable author statement. Source: UniProtKB
Cellular component	cell cortex Inferred from direct assay. Source: UniProtKB cell surface Inferred from direct assay. Source: UniProtKB extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Ref.1 Non-traceable author statement. Source: UniProtKB nucleus Inferred from direct assay. Source: UniProtKB plasma membrane Ref.1 Inferred from Experiment. Source: Reactome
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW fibroblast growth factor binding Inferred from physical interaction. Source: UniProtKB fibroblast growth factor receptor activity Ref.1 Ref.6 Ref.19 Ref.23 Non-traceable author statement. Source: UniProtKB heparin binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
FGF1	P05230	1	EBI-1028658,EBI-698068
FGF10	O15520	1	EBI-1028658,EBI-1035684
FGF2	P09038	1	EBI-1028732,EBI-977447

Alternative products

This entry describes 20 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P21802-1)

Also known as: BEK;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P21802-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     768-821: EYLDLSQPLEQYSPSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT → I

Isoform 3 (identifier: P21802-3)

Also known as: BFR-1;

The sequence of this isoform differs from the canonical sequence as follows:
     314-330: AAGVNTTDKEIEVLYIR → HSGINSSNAEVLALF
     334-335: FE → EA
     341-353: TCLAGNSIGISFH → ICKVSNYIGQANQ
     361-361: P → PKQQ

Isoform 4 (identifier: P21802-4)

Also known as: K-sam;

The sequence of this isoform differs from the canonical sequence as follows:
     37-125: Missing.
     314-330: AAGVNTTDKEIEVLYIR → HSGINSSNAEVLALF
     334-335: FE → EA
     341-353: TCLAGNSIGISFH → ICKVSNYIGQANQ
     361-361: P → PKQQ
     428-429: Missing.
     761-821: LTLTTNEEYLDLSQPLEQYSPSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT → PPNPSLMSIFRK

Isoform 5 (identifier: P21802-5)

Also known as: K-sam-I; BEK; IgIIIc;

The sequence of this isoform differs from the canonical sequence as follows:
     428-429: Missing.

Isoform 6 (identifier: P21802-6)

Also known as: K-sam-IIC2;

The sequence of this isoform differs from the canonical sequence as follows:
     428-429: Missing.
     778-821: QYSPSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT → PYSPCYPDPR

Isoform 7 (identifier: P21802-7)

Also known as: K-sam-IIO2;

The sequence of this isoform differs from the canonical sequence as follows:
     314-330: AAGVNTTDKEIEVLYIR → HSGINSSNAEVLALF
     334-335: FE → EA
     341-353: TCLAGNSIGISFH → ICKVSNYIGQANQ
     361-361: P → PKQQ
     768-821: EYLDLSQPLE...YPHINGSVKT → RYKLLPCPDK...RVRQEKISTG

Isoform 8 (identifier: P21802-8)

Also known as: K-sam-IIC3;

The sequence of this isoform differs from the canonical sequence as follows:
     428-429: Missing.
     768-821: EYLDLSQPLEQYSPSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT → I

Isoform 9 (identifier: P21802-9)

Also known as: K-sam-IIH1;

The sequence of this isoform differs from the canonical sequence as follows:
     314-330: AAGVNTTDKEIEVLYIR → HSGINSSNAEVLALF
     334-335: FE → EA
     341-353: TCLAGNSIGISFH → ICKVSNYIGQANQ
     361-361: P → PKQQ
     768-821: EYLDLSQPLE...YPHINGSVKT → RILTLTTNEN...LADTGSKVPN

Isoform 10 (identifier: P21802-10)

Also known as: K-sam-IIH2;

The sequence of this isoform differs from the canonical sequence as follows:
     314-330: AAGVNTTDKEIEVLYIR → HSGINSSNAEVLALF
     334-335: FE → EA
     341-353: TCLAGNSIGISFH → ICKVSNYIGQANQ
     361-361: P → PKQQ
     768-821: EYLDLSQPLE...YPHINGSVKT → SFQSSLKSSS...CAGSKKIYDI

Isoform 11 (identifier: P21802-11)

Also known as: K-sam-IIH3; K-sam-IIO4;

The sequence of this isoform differs from the canonical sequence as follows:
     314-330: AAGVNTTDKEIEVLYIR → HSGINSSNAEVLALF
     334-335: FE → EA
     341-353: TCLAGNSIGISFH → ICKVSNYIGQANQ
     361-361: P → PKQQ
     768-821: EYLDLSQPLE...YPHINGSVKT → GRLPAWASQE...SQGLPQSVVP

Isoform 12 (identifier: P21802-12)

Also known as: K-sam-IIO1;

The sequence of this isoform differs from the canonical sequence as follows:
     314-330: AAGVNTTDKEIEVLYIR → HSGINSSNAEVLALF
     334-335: FE → EA
     341-353: TCLAGNSIGISFH → ICKVSNYIGQANQ
     361-361: P → PKQQ
     768-821: EYLDLSQPLEQYSPSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT → PLS

Isoform 13 (identifier: P21802-13)

Also known as: K-sam-IIO3;

The sequence of this isoform differs from the canonical sequence as follows:
     314-330: AAGVNTTDKEIEVLYIR → HSGINSSNAEVLALF
     334-335: FE → EA
     341-353: TCLAGNSIGISFH → ICKVSNYIGQANQ
     361-361: P → PKQQ
     768-821: Missing.

Isoform 14 (identifier: P21802-14)

Also known as: K-sam-IV; Soluble KGFR;

The sequence of this isoform differs from the canonical sequence as follows:
     250-254: ERSPH → GSQGL
     255-821: Missing.

Isoform 15 (identifier: P21802-15)

Also known as: K-sam-III;

The sequence of this isoform differs from the canonical sequence as follows:
     314-429: Missing.

Isoform 16 (identifier: P21802-16)

Also known as: TK14;

The sequence of this isoform differs from the canonical sequence as follows:
     313-313: K → KVLK
     428-429: Missing.

Isoform 17 (identifier: P21802-17)

The sequence of this isoform differs from the canonical sequence as follows:
     314-330: AAGVNTTDKEIEVLYIR → HSGINSSNAEVLALF
     334-335: FE → EA
     341-353: TCLAGNSIGISFH → ICKVSNYIGQANQ
     361-361: P → PKQQ
     768-821: EYLDLSQPLEQYSPSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT → I

Isoform 18 (identifier: P21802-18)

Also known as: K-sam-IIC1; KGFR; IgIIIb;

The sequence of this isoform differs from the canonical sequence as follows:
     314-330: AAGVNTTDKEIEVLYIR → HSGINSSNAEVLALF
     334-335: FE → EA
     341-353: TCLAGNSIGISFH → ICKVSNYIGQANQ
     361-361: P → PKQQ
     428-429: Missing.

Isoform 19 (identifier: P21802-19)

Also known as: Soluble KGFR;

The sequence of this isoform differs from the canonical sequence as follows:
     314-330: AAGVNTTDKEIEVLYIR → HSGINSSNAEVLALF
     334-335: FE → EA
     341-353: TCLAGNSIGISFH → ICKVSNYIGQANQ
     361-361: P → PKQQ
     362-365: APGR → GRRC
     366-821: Missing.

Isoform 20 (identifier: P21802-20)

The sequence of this isoform differs from the canonical sequence as follows:
     37-152: EPPTKYQISQ...FVSENSNNKR → G
     429-430: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 21

21

Potential

Chain

22 – 821

800

Fibroblast growth factor receptor 2

PRO_0000016783

Regions

Topological domain

22 – 377

356

Extracellular Potential

Transmembrane

378 – 398

21

Potential

Topological domain

399 – 821

423

Cytoplasmic Potential

Domain

25 – 125

101

Ig-like C2-type 1

Domain

154 – 247

94

Ig-like C2-type 2

Domain

256 – 358

103

Ig-like C2-type 3

Domain

481 – 770

290

Protein kinase

Nucleotide binding

487 – 495

9

ATP By similarity

Region

161 – 178

18

Heparin-binding

Sites

Active site

626

1

Proton acceptor By similarity

Binding site

517

1

ATP By similarity

Amino acid modifications

Modified residue

448

1

Phosphothreonine

Modified residue

449

1

Phosphothreonine

Modified residue

657

1

Phosphotyrosine; by autocatalysis By similarity

Glycosylation

83

1

N-linked (GlcNAc...) Potential

Glycosylation

123

1

N-linked (GlcNAc...) Potential

Glycosylation

228

1

N-linked (GlcNAc...) Potential

Glycosylation

241

1

N-linked (GlcNAc...) Potential

Glycosylation

265

1

N-linked (GlcNAc...) Potential

Glycosylation

297

1

N-linked (GlcNAc...) Potential

Glycosylation

318

1

N-linked (GlcNAc...) Potential

Glycosylation

331

1

N-linked (GlcNAc...) Potential

Disulfide bond

62 ↔ 107

Potential

Disulfide bond

179 ↔ 231

Potential

Disulfide bond

278 ↔ 342

Potential

Natural variations

Alternative sequence

37 – 152

116

EPPTK…SNNKR → G in isoform 20.

VSP_019608

Alternative sequence

37 – 125

89

Missing in isoform 4.

VSP_002964

Alternative sequence

250 – 254

5

ERSPH → GSQGL in isoform 14.

VSP_002965

Alternative sequence

255 – 821

567

Missing in isoform 14.

VSP_002966

Alternative sequence

313

1

K → KVLK in isoform 16.

VSP_002967

Alternative sequence

314 – 429

116

Missing in isoform 15.

VSP_002968

Alternative sequence

314 – 330

17

AAGVN…VLYIR → HSGINSSNAEVLALF in isoform 3, isoform 4, isoform 7, isoform 9, isoform 10, isoform 11, isoform 12, isoform 13, isoform 17, isoform 18 and isoform 19.

VSP_002969

Alternative sequence

334 – 335

2

FE → EA in isoform 3, isoform 4, isoform 7, isoform 9, isoform 10, isoform 11, isoform 12, isoform 13, isoform 17, isoform 18 and isoform 19.

VSP_002970

Alternative sequence

341 – 353

13

TCLAG…GISFH → ICKVSNYIGQANQ in isoform 3, isoform 4, isoform 7, isoform 9, isoform 10, isoform 11, isoform 12, isoform 13, isoform 17, isoform 18 and isoform 19.

VSP_002971

Alternative sequence

361

1

P → PKQQ in isoform 3, isoform 4, isoform 7, isoform 9, isoform 10, isoform 11, isoform 12, isoform 13, isoform 17, isoform 18 and isoform 19.

VSP_002972

Alternative sequence

362 – 365

4

APGR → GRRC in isoform 19.

VSP_002973

Alternative sequence

366 – 821

456

Missing in isoform 19.

VSP_002974

Alternative sequence

428 – 429

2

Missing in isoform 4, isoform 5, isoform 6, isoform 8, isoform 16 and isoform 18.

VSP_002975

Alternative sequence

429 – 430

2

Missing in isoform 20.

VSP_019609

Alternative sequence

761 – 821

61

LTLTT…GSVKT → PPNPSLMSIFRK in isoform 4.

VSP_002976

Alternative sequence

768 – 821

54

EYLDL…GSVKT → SFQSSLKSSSTGIPGWPPGS EVFSEVAFRGILNYDIERPI LCAGSKKIYDI in isoform 10.

VSP_002981

Alternative sequence

768 – 821

54

EYLDL…GSVKT → GRLPAWASQEKENSQTSLFA ISHVTLSSISKTRSSAKRDE KPGSSPHLALVRSQGLPQSV VP in isoform 11.

VSP_002982

Alternative sequence

768 – 821

54

EYLDL…GSVKT → PLS in isoform 12.

VSP_002983

Alternative sequence

768 – 821

54

Missing in isoform 13.

VSP_002977

Alternative sequence

768 – 821

54

EYLDL…GSVKT → I in isoform 2, isoform 8 and isoform 17.

VSP_002978

Alternative sequence

768 – 821

54

EYLDL…GSVKT → RYKLLPCPDKHNKRCKPEER GDLTEAGAAGSSRCVDSRKR VRQEKISTG in isoform 7.

VSP_002979

Alternative sequence

768 – 821

54

EYLDL…GSVKT → RILTLTTNENFQSTSGREGT EIHALQCLRSEVTPAISCES PLADTGSKVPN in isoform 9.

VSP_002980

Alternative sequence

778 – 821

44

QYSPS…GSVKT → PYSPCYPDPR in isoform 6.

VSP_002984

Natural variant

6

1

R → P: dbSNP rs3750819. Ref.14

VAR_017258

Natural variant

57

1

S → L: dbSNP rs56226109. Ref.61

VAR_042204

Natural variant

105

1

Y → C in CS. Ref.37 Ref.56

VAR_004112

Natural variant

172

1

A → F in PS; requires 2 nucleotide substitutions. Ref.56

VAR_017259

Natural variant

186

1

M → T: dbSNP rs755793. Ref.56 Ref.14 Ref.61

VAR_017260

Natural variant

203

1

R → C in breast cancer samples; infiltrating ductal carcinoma; somatic mutation. Ref.61 Ref.60

VAR_036380

Natural variant

252 – 253

2

SP → FS in PS.

VAR_004116

Natural variant

252

1

S → F in APRS; requires 2 nucleotide substitutions. Ref.42

VAR_004114

Natural variant

252

1

S → L in CS. Ref.42

VAR_004113

Natural variant

252

1

S → W in APRS and PS; common mutation. Ref.44 Ref.56 Ref.18 Ref.26 Ref.34 Ref.46 Ref.48

VAR_004115

Natural variant

253

1

P → R in APRS; common mutation. Ref.44 Ref.56 Ref.18 Ref.26 Ref.34 Ref.46

VAR_004117

Natural variant

263

1

P → L in CS. Ref.52

VAR_017261

Natural variant

267

1

S → P in CS. Ref.56

VAR_004118

Natural variant

268

1

T → TG in CS. Ref.36

VAR_004119

Natural variant

272

1

G → V in an ovarian serous carcinoma sample; somatic mutation. Ref.61

VAR_042205

Natural variant

273

1

Missing in PS; type 2.

VAR_017262

Natural variant

276

1

F → V in CS. Ref.45 Ref.52 Ref.56

VAR_004120

Natural variant

278

1

C → F in CS, JWS and PS. Ref.36 Ref.44 Ref.52 Ref.56

VAR_004121

Natural variant

278

1

C → Y in CS. Ref.52

VAR_017263

Natural variant

281

1

Y → C in CS. Ref.55 Ref.56

VAR_017264

Natural variant

283

1

D → N in a lung squamous cell carcinoma sample; somatic mutation. Ref.61

VAR_042206

Natural variant

287 – 289

3

Missing in CS.

VAR_004122

Natural variant

288

1

I → S in CS. Ref.52

VAR_017265

Natural variant

289

1

Q → P in CS and JWS. Ref.21 Ref.36 Ref.52 Ref.55 Ref.56

VAR_004123

Natural variant

290

1

W → C in PS; severe; also in a lung squamous cell carcinoma sample; somatic mutation. Ref.56 Ref.40 Ref.61

VAR_004124

Natural variant

290

1

W → G in CS. Ref.32

VAR_017266

Natural variant

290

1

W → R in CS.

VAR_004125

Natural variant

292

1

K → E in CS. Ref.43

VAR_004126

Natural variant

301

1

Y → C in CS. Ref.45

VAR_004127

Natural variant

314

1

A → S in craniosynostosis. Ref.45

VAR_004128

Natural variant

315

1

A → S in a non-syndromic craniosynostosis patient with abnormal intrauterine history; confers predisposition to craniosynostosis. Ref.56 Ref.53

VAR_017267

Natural variant

321

1

D → A in PS. Ref.33

VAR_004129

Natural variant

328

1

Y → C in CS. Ref.30

VAR_004130

Natural variant

331

1

N → I in CS. Ref.38

VAR_004131

Natural variant

337

1

A → ANA in CS.

VAR_004132

Natural variant

337

1

A → P in CS. Ref.44

VAR_017268

Natural variant

338

1

G → E in CS. Ref.37

VAR_004133

Natural variant

338

1

G → R in CS. Ref.21 Ref.44 Ref.56

VAR_015011

Natural variant

340

1

Y → C in PS. Ref.56 Ref.50

VAR_017269

Natural variant

340

1

Y → H in CS. Ref.29 Ref.56

VAR_004134

Natural variant

341

1

T → P in PS and CS. Ref.52 Ref.56 Ref.35

VAR_004135

Natural variant

342

1

C → F in CS. Ref.36 Ref.44 Ref.56

VAR_004136

Natural variant

342

1

C → G in PS. Ref.50

VAR_017270

Natural variant

342

1

C → R in CS, JWS, PS and ABS. Ref.29 Ref.32 Ref.36 Ref.44 Ref.52 Ref.55 Ref.56 Ref.35 Ref.54

VAR_004137

Natural variant

342

1

C → S in CS, JWS, PS and ABS. Ref.10 Ref.21 Ref.29 Ref.36 Ref.52 Ref.56 Ref.41 Ref.54

VAR_004138

Natural variant

342

1

C → W in CS. Ref.32 Ref.52 Ref.56

VAR_017271

Natural variant

342

1

C → Y in CS and PS. Ref.21 Ref.29 Ref.36 Ref.44 Ref.52 Ref.55 Ref.56 Ref.35

VAR_004139

Natural variant

344

1

A → G in CS and JWS. Ref.21 Ref.30

VAR_004140

Natural variant

344

1

A → P in CS and PS. Ref.36

VAR_004141

Natural variant

347

1

S → C in CS. Ref.30 Ref.56

VAR_004142

Natural variant

351

1

S → C in CS, PS and ABS. Ref.37 Ref.47 Ref.54

VAR_004143

Natural variant

354

1

S → C in CS. Ref.21 Ref.29 Ref.32 Ref.52 Ref.56

VAR_004144

Natural variant

354

1

S → Y in CS. Ref.52

VAR_017272

Natural variant

356 – 358

3

Missing in CS.

VAR_004145

Natural variant

359

1

V → F in CS and PS. Ref.36 Ref.52

VAR_004146

Natural variant

362

1

A → S in CS. Ref.49

VAR_017273

Natural variant

372

1

S → C in Beare-Stevenson cutis gyrata syndrome. Ref.39

VAR_017274

Natural variant

375

1

Y → C in PS and Beare-Stevenson cutis gyrata syndrome. Ref.56 Ref.39 Ref.57

VAR_017275

Natural variant

384

1

G → R in CS. Ref.37

VAR_004147

Natural variant

526

1

K → E in FSPC. Ref.58

VAR_023788

Natural variant

549

1

N → H in CS. Ref.56

VAR_017276

Natural variant

565

1

E → G in PS. Ref.56

VAR_017277

Natural variant

612

1

R → T in a lung adenocarcinoma sample; somatic mutation. Ref.61

VAR_046071

Natural variant

613

1

G → R

VAR_015012

Natural variant

628

1

A → T in LADDS. Ref.59

VAR_029884

Natural variant

641

1

K → R in PS. Ref.56

VAR_017278

Natural variant

648

1

A → T in LADDS. Ref.59

VAR_029885

Natural variant

649 – 650

2

RD → S in LADDS.

VAR_029886

Natural variant

659

1

K → N in craniosynostosis. Ref.56

VAR_017279

Natural variant

663

1

G → E in PS. Ref.56

VAR_017280

Natural variant

678

1

R → G in CS. Ref.56

VAR_017281

Secondary structure

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821

Helix Strand Turn

Details...

Beta strand

153 – 157

5

Helix

160 – 162

3

Beta strand

166 – 170

5

Beta strand

175 – 178

4

Beta strand

181 – 185

5

Beta strand

188 – 193

6

Helix

200 – 202

3

Turn

211 – 213

3

Beta strand

215 – 218

4

Helix

223 – 225

3

Beta strand

227 – 235

9

Beta strand

238 – 249

12

Beta strand

266 – 269

4

Beta strand

274 – 277

4

Beta strand

287 – 293

7

Beta strand

309 – 314

6

Helix

321 – 325

5

Beta strand

326 – 329

4

Beta strand

338 – 345

8

Beta strand

350 – 360

11

Turn

472 – 474

3

Helix

478 – 480

3

Beta strand

481 – 489

9

Beta strand

491 – 501

11

Beta strand

511 – 518

8

Helix

525 – 541

17

Beta strand

550 – 554

5

Beta strand

556 – 559

4

Beta strand

561 – 565

5

Helix

572 – 578

7

Helix

600 – 619

20

Beta strand

632 – 634

3

Beta strand

640 – 642

3

Turn

657 – 659

3

Helix

667 – 669

3

Helix

672 – 676

5

Helix

682 – 697

16

Helix

709 – 718

10

Helix

730 – 739

10

Helix

744 – 746

3

Helix

750 – 762

13

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (BEK) [UniParc]. Last modified May 1, 1991. Version 1. Checksum: 6CD5001C960ED82F	FASTA	821	92,025
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL 370 380 390 400 410 420 PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK 430 440 450 460 470 480 RIPLRRQVTV SAESSSSMNS NTPLVRITTR LSSTADTPML AGVSEYELPE DPKWEFPRDK 490 500 510 520 530 540 LTLGKPLGEG CFGQVVMAEA VGIDKDKPKE AVTVAVKMLK DDATEKDLSD LVSEMEMMKM 550 560 570 580 590 600 IGKHKNIINL LGACTQDGPL YVIVEYASKG NLREYLRARR PPGMEYSYDI NRVPEEQMTF 610 620 630 640 650 660 KDLVSCTYQL ARGMEYLASQ KCIHRDLAAR NVLVTENNVM KIADFGLARD INNIDYYKKT 670 680 690 700 710 720 TNGRLPVKWM APEALFDRVY THQSDVWSFG VLMWEIFTLG GSPYPGIPVE ELFKLLKEGH 730 740 750 760 770 780 RMDKPANCTN ELYMMMRDCW HAVPSQRPTF KQLVEDLDRI LTLTTNEEYL DLSQPLEQYS 790 800 810 820 PSYPDTRSSC SSGDDSVFSP DPMPYEPCLP QYPHINGSVK T
	Isoform 2 (Short). Checksum: 8D4734CBEA8E8C8F	FASTA	768	86,130
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL 370 380 390 400 410 420 PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK 430 440 450 460 470 480 RIPLRRQVTV SAESSSSMNS NTPLVRITTR LSSTADTPML AGVSEYELPE DPKWEFPRDK 490 500 510 520 530 540 LTLGKPLGEG CFGQVVMAEA VGIDKDKPKE AVTVAVKMLK DDATEKDLSD LVSEMEMMKM 550 560 570 580 590 600 IGKHKNIINL LGACTQDGPL YVIVEYASKG NLREYLRARR PPGMEYSYDI NRVPEEQMTF 610 620 630 640 650 660 KDLVSCTYQL ARGMEYLASQ KCIHRDLAAR NVLVTENNVM KIADFGLARD INNIDYYKKT 670 680 690 700 710 720 TNGRLPVKWM APEALFDRVY THQSDVWSFG VLMWEIFTLG GSPYPGIPVE ELFKLLKEGH 730 740 750 760 RMDKPANCTN ELYMMMRDCW HAVPSQRPTF KQLVEDLDRI LTLTTNEI
	Isoform 3 (BFR-1). Checksum: 288CF737673BA4AB	FASTA	822	92,118
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK 370 380 390 400 410 420 QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT 430 440 450 460 470 480 KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD 490 500 510 520 530 540 KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK 550 560 570 580 590 600 MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT 610 620 630 640 650 660 FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK 670 680 690 700 710 720 TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG 730 740 750 760 770 780 HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNEEY LDLSQPLEQY 790 800 810 820 SPSYPDTRSS CSSGDDSVFS PDPMPYEPCL PQYPHINGSV KT
	Isoform 4 (K-sam). Checksum: D56050B4385A6635	FASTA	682	76,705
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEDAIS SGDDEDDTDG AEDFVSENSN 70 80 90 100 110 120 NKRAPYWTNT EKMEKRLHAV PAANTVKFRC PAGGNPMPTM RWLKNGKEFK QEHRIGGYKV 130 140 150 160 170 180 RNQHWSLIME SVVPSDKGNY TCVVENEYGS INHTYHLDVV ERSPHRPILQ AGLPANASTV 190 200 210 220 230 240 VGGDVEFVCK VYSDAQPHIQ WIKHVEKNGS KYGPDGLPYL KVLKHSGINS SNAEVLALFN 250 260 270 280 290 300 VTEADAGEYI CKVSNYIGQA NQSAWLTVLP KQQAPGREKE ITASPDYLEI AIYCIGVFLI 310 320 330 340 350 360 ACMVVTVILC RMKNTTKKPD FSSQPAVHKL TKRIPLRRQV SAESSSSMNS NTPLVRITTR 370 380 390 400 410 420 LSSTADTPML AGVSEYELPE DPKWEFPRDK LTLGKPLGEG CFGQVVMAEA VGIDKDKPKE 430 440 450 460 470 480 AVTVAVKMLK DDATEKDLSD LVSEMEMMKM IGKHKNIINL LGACTQDGPL YVIVEYASKG 490 500 510 520 530 540 NLREYLRARR PPGMEYSYDI NRVPEEQMTF KDLVSCTYQL ARGMEYLASQ KCIHRDLAAR 550 560 570 580 590 600 NVLVTENNVM KIADFGLARD INNIDYYKKT TNGRLPVKWM APEALFDRVY THQSDVWSFG 610 620 630 640 650 660 VLMWEIFTLG GSPYPGIPVE ELFKLLKEGH RMDKPANCTN ELYMMMRDCW HAVPSQRPTF 670 680 KQLVEDLDRI PPNPSLMSIF RK
	Isoform 5 (K-sam-I) (BEK) (IgIIIc). Checksum: 4746938783A1D94F	FASTA	819	91,825
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL 370 380 390 400 410 420 PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK 430 440 450 460 470 480 RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT 490 500 510 520 530 540 LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG 550 560 570 580 590 600 KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD 610 620 630 640 650 660 LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN 670 680 690 700 710 720 GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM 730 740 750 760 770 780 DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL SQPLEQYSPS 790 800 810 YPDTRSSCSS GDDSVFSPDP MPYEPCLPQY PHINGSVKT
	Isoform 6 (K-sam-IIC2). Checksum: 042BF83F92CE97F5	FASTA	785	88,181
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL 370 380 390 400 410 420 PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK 430 440 450 460 470 480 RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT 490 500 510 520 530 540 LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG 550 560 570 580 590 600 KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD 610 620 630 640 650 660 LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN 670 680 690 700 710 720 GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM 730 740 750 760 770 780 DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL SQPLEPYSPC YPDPR
	Isoform 7 (K-sam-IIO2). Checksum: 46BA78E51DB700CD	FASTA	817	91,620
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK 370 380 390 400 410 420 QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT 430 440 450 460 470 480 KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD 490 500 510 520 530 540 KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK 550 560 570 580 590 600 MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT 610 620 630 640 650 660 FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK 670 680 690 700 710 720 TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG 730 740 750 760 770 780 HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNERY KLLPCPDKHN 790 800 810 KRCKPEERGD LTEAGAAGSS RCVDSRKRVR QEKISTG
	Isoform 8 (K-sam-IIC3). Checksum: FE97A413B085D31E	FASTA	766	85,929
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL 370 380 390 400 410 420 PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK 430 440 450 460 470 480 RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT 490 500 510 520 530 540 LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG 550 560 570 580 590 600 KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD 610 620 630 640 650 660 LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN 670 680 690 700 710 720 GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM 730 740 750 760 DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEI
	Isoform 9 (K-sam-IIH1). Checksum: C60FE09EC1BE0654	FASTA	819	91,566
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK 370 380 390 400 410 420 QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT 430 440 450 460 470 480 KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD 490 500 510 520 530 540 KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK 550 560 570 580 590 600 MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT 610 620 630 640 650 660 FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK 670 680 690 700 710 720 TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG 730 740 750 760 770 780 HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNERI LTLTTNENFQ 790 800 810 STSGREGTEI HALQCLRSEV TPAISCESPL ADTGSKVPN
	Isoform 10 (K-sam-IIH2). Checksum: 467E9BAAD07C5463	FASTA	819	91,641
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK 370 380 390 400 410 420 QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT 430 440 450 460 470 480 KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD 490 500 510 520 530 540 KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK 550 560 570 580 590 600 MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT 610 620 630 640 650 660 FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK 670 680 690 700 710 720 TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG 730 740 750 760 770 780 HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNESF QSSLKSSSTG 790 800 810 IPGWPPGSEV FSEVAFRGIL NYDIERPILC AGSKKIYDI
	Isoform 11 (K-sam-IIH3) (K-sam-IIO4). Checksum: E726FA4235995586	FASTA	830	92,733
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK 370 380 390 400 410 420 QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT 430 440 450 460 470 480 KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD 490 500 510 520 530 540 KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK 550 560 570 580 590 600 MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT 610 620 630 640 650 660 FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK 670 680 690 700 710 720 TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG 730 740 750 760 770 780 HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNEGR LPAWASQEKE 790 800 810 820 830 NSQTSLFAIS HVTLSSISKT RSSAKRDEKP GSSPHLALVR SQGLPQSVVP
	Isoform 12 (K-sam-IIO1). Checksum: 881C475B4771CA5C	FASTA	771	86,407
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK 370 380 390 400 410 420 QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT 430 440 450 460 470 480 KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD 490 500 510 520 530 540 KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK 550 560 570 580 590 600 MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT 610 620 630 640 650 660 FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK 670 680 690 700 710 720 TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG 730 740 750 760 770 HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNEPL S
	Isoform 13 (K-sam-IIO3). Checksum: BB4771CA5CBEEFAA	FASTA	768	86,110
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK 370 380 390 400 410 420 QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT 430 440 450 460 470 480 KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD 490 500 510 520 530 540 KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK 550 560 570 580 590 600 MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT 610 620 630 640 650 660 FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK 670 680 690 700 710 720 TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG 730 740 750 760 HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNE
	Isoform 14 (K-sam-IV) (Soluble KGFR). Checksum: 1855113266C85F4F	FASTA	254	28,299
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 NHTYHLDVVG SQGL
	Isoform 15 (K-sam-III). Checksum: 590967DCBF5DA25D	FASTA	705	79,212
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKVSAESSS SMNSNTPLVR ITTRLSSTAD TPMLAGVSEY ELPEDPKWEF 370 380 390 400 410 420 PRDKLTLGKP LGEGCFGQVV MAEAVGIDKD KPKEAVTVAV KMLKDDATEK DLSDLVSEME 430 440 450 460 470 480 MMKMIGKHKN IINLLGACTQ DGPLYVIVEY ASKGNLREYL RARRPPGMEY SYDINRVPEE 490 500 510 520 530 540 QMTFKDLVSC TYQLARGMEY LASQKCIHRD LAARNVLVTE NNVMKIADFG LARDINNIDY 550 560 570 580 590 600 YKKTTNGRLP VKWMAPEALF DRVYTHQSDV WSFGVLMWEI FTLGGSPYPG IPVEELFKLL 610 620 630 640 650 660 KEGHRMDKPA NCTNELYMMM RDCWHAVPSQ RPTFKQLVED LDRILTLTTN EEYLDLSQPL 670 680 690 700 EQYSPSYPDT RSSCSSGDDS VFSPDPMPYE PCLPQYPHIN GSVKT
	Isoform 16 (TK14). Checksum: 15D08A690BB44EA0	FASTA	822	92,165
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKVLKAAGV NTTDKEIEVL YIRNVTFEDA GEYTCLAGNS IGISFHSAWL 370 380 390 400 410 420 TVLPAPGREK EITASPDYLE IAIYCIGVFL IACMVVTVIL CRMKNTTKKP DFSSQPAVHK 430 440 450 460 470 480 LTKRIPLRRQ VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD 490 500 510 520 530 540 KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK 550 560 570 580 590 600 MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT 610 620 630 640 650 660 FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK 670 680 690 700 710 720 TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG 730 740 750 760 770 780 HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNEEY LDLSQPLEQY 790 800 810 820 SPSYPDTRSS CSSGDDSVFS PDPMPYEPCL PQYPHINGSV KT
	Isoform 17. Checksum: 806B4771CA5CBEEF	FASTA	769	86,223
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK 370 380 390 400 410 420 QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT 430 440 450 460 470 480 KRIPLRRQVT VSAESSSSMN SNTPLVRITT RLSSTADTPM LAGVSEYELP EDPKWEFPRD 490 500 510 520 530 540 KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK EAVTVAVKML KDDATEKDLS DLVSEMEMMK 550 560 570 580 590 600 MIGKHKNIIN LLGACTQDGP LYVIVEYASK GNLREYLRAR RPPGMEYSYD INRVPEEQMT 610 620 630 640 650 660 FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA RNVLVTENNV MKIADFGLAR DINNIDYYKK 670 680 690 700 710 720 TTNGRLPVKW MAPEALFDRV YTHQSDVWSF GVLMWEIFTL GGSPYPGIPV EELFKLLKEG 730 740 750 760 HRMDKPANCT NELYMMMRDC WHAVPSQRPT FKQLVEDLDR ILTLTTNEI
	Isoform 18 (K-sam-IIC1) (KGFR) (IgIIIb). Checksum: 806D62B2FF25AFF6	FASTA	820	91,918
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK 370 380 390 400 410 420 QQAPGREKEI TASPDYLEIA IYCIGVFLIA CMVVTVILCR MKNTTKKPDF SSQPAVHKLT 430 440 450 460 470 480 KRIPLRRQVS AESSSSMNSN TPLVRITTRL SSTADTPMLA GVSEYELPED PKWEFPRDKL 490 500 510 520 530 540 TLGKPLGEGC FGQVVMAEAV GIDKDKPKEA VTVAVKMLKD DATEKDLSDL VSEMEMMKMI 550 560 570 580 590 600 GKHKNIINLL GACTQDGPLY VIVEYASKGN LREYLRARRP PGMEYSYDIN RVPEEQMTFK 610 620 630 640 650 660 DLVSCTYQLA RGMEYLASQK CIHRDLAARN VLVTENNVMK IADFGLARDI NNIDYYKKTT 670 680 690 700 710 720 NGRLPVKWMA PEALFDRVYT HQSDVWSFGV LMWEIFTLGG SPYPGIPVEE LFKLLKEGHR 730 740 750 760 770 780 MDKPANCTNE LYMMMRDCWH AVPSQRPTFK QLVEDLDRIL TLTTNEEYLD LSQPLEQYSP 790 800 810 820 SYPDTRSSCS SGDDSVFSPD PMPYEPCLPQ YPHINGSVKT
	Isoform 19 (Soluble KGFR). Checksum: C02708836203465F	FASTA	366	40,614
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV 70 80 90 100 110 120 RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF 130 140 150 160 170 180 MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP 190 200 210 220 230 240 AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI 250 260 270 280 290 300 NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK 310 320 330 340 350 360 YGPDGLPYLK VLKHSGINSS NAEVLALFNV TEADAGEYIC KVSNYIGQAN QSAWLTVLPK QQGRRC
	Isoform 20. Checksum: 287F39DCF95B9312	FASTA	704	79,197
	10 20 30 40 50 60 MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEGAPY WTNTEKMEKR LHAVPAANTV 70 80 90 100 110 120 KFRCPAGGNP MPTMRWLKNG KEFKQEHRIG GYKVRNQHWS LIMESVVPSD KGNYTCVVEN 130 140 150 160 170 180 EYGSINHTYH LDVVERSPHR PILQAGLPAN ASTVVGGDVE FVCKVYSDAQ PHIQWIKHVE 190 200 210 220 230 240 KNGSKYGPDG LPYLKVLKAA GVNTTDKEIE VLYIRNVTFE DAGEYTCLAG NSIGISFHSA 250 260 270 280 290 300 WLTVLPAPGR EKEITASPDY LEIAIYCIGV FLIACMVVTV ILCRMKNTTK KPDFSSQPAV 310 320 330 340 350 360 HKLTKRIPLR RQVSAESSSS MNSNTPLVRI TTRLSSTADT PMLAGVSEYE LPEDPKWEFP 370 380 390 400 410 420 RDKLTLGKPL GEGCFGQVVM AEAVGIDKDK PKEAVTVAVK MLKDDATEKD LSDLVSEMEM 430 440 450 460 470 480 MKMIGKHKNI INLLGACTQD GPLYVIVEYA SKGNLREYLR ARRPPGMEYS YDINRVPEEQ 490 500 510 520 530 540 MTFKDLVSCT YQLARGMEYL ASQKCIHRDL AARNVLVTEN NVMKIADFGL ARDINNIDYY 550 560 570 580 590 600 KKTTNGRLPV KWMAPEALFD RVYTHQSDVW SFGVLMWEIF TLGGSPYPGI PVEELFKLLK 610 620 630 640 650 660 EGHRMDKPAN CTNELYMMMR DCWHAVPSQR PTFKQLVEDL DRILTLTTNE EYLDLSQPLE 670 680 690 700 QYSPSYPDTR SSCSSGDDSV FSPDPMPYEP CLPQYPHING SVKT

References

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[1]	"Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors." Dionne C.A., Crumley G.R., Bellot F., Kaplow J.M., Searfoss G., Ruta M., Burgess W.H., Jaye M., Schlessinger J. EMBO J. 9:2685-2692(1990) [PubMed: 1697263] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Neonatal brain stem.
[2]	"Related fibroblast growth factor receptor genes exist in the human genome." Houssaint E., Blanquet P.R., Champion-Arnaud P., Gesnel M.-C., Torriglia A., Courtois Y., Breathnach R. Proc. Natl. Acad. Sci. U.S.A. 87:8180-8184(1990) [PubMed: 2172978] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 16).
[3]	"Two cDNAs encoding novel human FGF receptor." Seno M., Sasada R., Watanabe T., Ishimaru K., Igarashi K. Biochim. Biophys. Acta 1089:244-246(1991) [PubMed: 1647213] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 17).
[4]	"K-sam, an amplified gene in stomach cancer, is a member of the heparin-binding growth factor receptor genes." Hattori Y., Odagiri H., Nakatani H., Miyagawa K., Naito K., Sakamoto H., Katoh O., Yoshida T., Sugimura T., Terada M. Proc. Natl. Acad. Sci. U.S.A. 87:5983-5987(1990) [PubMed: 2377625] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4). Tissue: Stomach cancer.
[5]	"K-sam gene encodes secreted as well as transmembrane receptor tyrosine kinase." Katoh M., Hattori Y., Sasaki H., Tanaka M., Sugano K., Yazaki Y., Sugimura T., Terada M. Proc. Natl. Acad. Sci. U.S.A. 89:2960-2964(1992) [PubMed: 1313574] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5; 14 AND 15).
[6]	"A novel form of fibroblast growth factor receptor 2. Alternative splicing of the third immunoglobulin-like domain confers ligand binding specificity." Dell K.R., Williams L.T. J. Biol. Chem. 267:21225-21229(1992) [PubMed: 1400433] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Placenta.
[7]	"Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene." Miki T., Bottaro D.P., Fleming T.P., Smith C.L., Burgess W.H., Chan A.M.-L., Aaronson S.A. Proc. Natl. Acad. Sci. U.S.A. 89:246-250(1992) [PubMed: 1309608] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 19), VARIANT ARG-613. Tissue: Mammary gland.
[8]	"Hepatocyte growth factor (HGF), keratinocyte growth factor (KGF), and their receptors in human breast cells and tissues: alternative receptors." Wilson S.E., Weng J., Chwang E.L., Gollahon L., Leitch A.M., Shay J.W. Cell. Mol. Biol. Res. 40:337-350(1994) [PubMed: 7866434] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 19). Tissue: Cornea and Mammary gland.
[9]	Erratum Wilson S.E., Weng J., Chwang E.L., Gollahon L., Leitch A.M., Shay J.W. Cell. Mol. Biol. Res. 40:707-707(1994)
[10]	Steinberger D., Mueller U. Submitted (APR-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT CS SER-342. Tissue: Blood.
[11]	"Deletion of the carboxyl-terminal exons of K-sam/FGFR2 by short homology-mediated recombination, generating preferential expression of specific messenger RNAs." Ueda T., Sasaki H., Kuwahara Y., Nezu M., Shibuya T., Sakamoto H., Ishii H., Yanagihara K., Mafune K., Makuuchi M., Terada M. Cancer Res. 59:6080-6086(1999) [PubMed: 10626794] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 7; 9; 10; 11; 12 AND 13), VARIANT ARG-613.
[12]	"Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations." Ingersoll R.G., Paznekas W.A., Tran A.K., Scott A.F., Jiang G., Jabs E.W. Cytogenet. Cell Genet. 94:121-126(2001) [PubMed: 11856867] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 5; 6; 8; 14 AND 18).
[13]	"Sequence and polymorphisms in fibroblast growth factor receptor 2 (FGFR2) gene in humans." Lind D.L., Cox D.R. Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3).
[14]	NIEHS SNPs program Submitted (APR-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PRO-6 AND THR-186.
[15]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 20). Tissue: Brain.
[16]	"Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome." Glaser R.L., Jiang W., Boyadjiev S.A., Tran A.K., Zachary A.A., Van Maldergem L., Johnson D., Walsh S., Oldridge M., Wall S.A., Wilkie A.O.M., Jabs E.W. Am. J. Hum. Genet. 66:768-777(2000) [PubMed: 10712195] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 314-427.
[17]	"Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family." Zhang Y., Gorry M.C., Post J.C., Ehrlich G.D. Gene 230:69-79(1999) [PubMed: 10196476] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-209; 212-767 AND 771-821 (ISOFORMS 5; 14 AND 18).
[18]	"Analysis of phenotypic features and FGFR2 mutations in Apert syndrome." Park W.-J., Theda C., Maestri N.E., Meyers G.A., Fryburg J.S., Dufresne C., Cohen M.M. Jr., Jabs E.W. Am. J. Hum. Genet. 57:321-328(1995) [PubMed: 7668257] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 249-313, VARIANTS APRS TRP-252 AND ARG-253.
[19]	"Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome." Wada C., Ishigaki M., Toyo-oka Y., Yamabe H., Ohnuki Y., Takada F., Yamazaki Y., Ohtani H. Rinsho Byori 44:435-438(1996) [PubMed: 8676562] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 251-259.
[20]	"Exclusive paternal origin of new mutations in Apert syndrome." Moloney D.M., Slaney S.F., Oldridge M., Wall S.A., Sahlin P., Stenman G., Wilkie A.O.M. Nat. Genet. 13:48-53(1996) [PubMed: 8673103] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 251-318.
[21]	"Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome." Gorry M.C., Preston R.A., White G.J., Zhang Y., Singhal V.K., Losken H.W., Parker M.G., Nwokoro N.A., Post J.C., Ehrlich G.D. Hum. Mol. Genet. 4:1387-1390(1995) [PubMed: 7581378] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 263-361, VARIANTS CS PRO-289; ARG-338; SER-342; TYR-342; GLY-344 AND CYS-354.
[22]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed: 19369195] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-448 AND THR-449, MASS SPECTROMETRY.
[23]	"Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity." Plotnikov A.N., Hubbard S.R., Schlessinger J., Mohammadi M. Cell 101:413-424(2000) [PubMed: 10830168] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 147-366 IN COMPLEX WITH FGF2.
[24]	"Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin." Pellegrini L., Burke D.F., von Delft F., Mulloy B., Blundell T.L. Nature 407:1029-1034(2000) [PubMed: 11069186] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 148-366 IN COMPLEX WITH FGF1 AND HEPARIN.
[25]	"Structural interactions of fibroblast growth factor receptor with its ligands." Stauber D.J., DiGabriele A.D., Hendrickson W.A. Proc. Natl. Acad. Sci. U.S.A. 97:49-54(2000) [PubMed: 10618369] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 147-362 IN COMPLEX WITH FGF1.
[26]	"Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome." Ibrahimi O.A., Eliseenkova A.V., Plotnikov A.N., Yu K., Ornitz D.M., Mohammadi M. Proc. Natl. Acad. Sci. U.S.A. 98:7182-7187(2001) [PubMed: 11390973] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 147-366 OF VARIANTS APRS TRP-252 AND ARG-253 IN COMPLEX WITH FGF2.
[27]	"Structural basis by which alternative splicing confers specificity in fibroblast growth factor receptors." Yeh B.K., Igarashi M., Eliseenkova A.V., Plotnikov A.N., Sher I., Ron D., Aaronson S.A., Mohammadi M. Proc. Natl. Acad. Sci. U.S.A. 100:2266-2271(2003) [PubMed: 12591959] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 140-371 IN COMPLEX WITH FGF10.
[28]	"Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain." Olsen S.K., Li J.Y.H., Bromleigh C., Eliseenkova A.V., Ibrahimi O.A., Lao Z., Zhang F., Linhardt R.J., Joyner A.L., Mohammadi M. Genes Dev. 20:185-198(2006) [PubMed: 16384934] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.28 ANGSTROMS) OF 149-368 IN COMPLEX WITH FGF8.
[29]	"Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome." Reardon W., Winter R.M., Rutland P., Pulleyn L.J., Jones B.M., Malcolm S. Nat. Genet. 8:98-103(1994) [PubMed: 7987400] [Abstract] Cited for: VARIANTS CS HIS-340; ARG-342; SER-342; TYR-342 AND CYS-354.
[30]	"Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2." Jabs E.W., Li X., Scott A.F., Meyers G.A., Chen W., Eccles M., Mao J., Charnas L.R., Jackson C.E., Jaye M. Nat. Genet. 8:275-279(1994) [PubMed: 7874170] [Abstract] Cited for: VARIANTS CS CYS-328 AND CYS-347, VARIANT JWS GLY-344.
[31]	"Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome." Oldridge M., Wilkie A.O.M., Slaney S.F., Poole M.D., Pulleyn L.J., Rutland P., Hockley A.D., Wake M.J.C., Goldin J.H., Winter R.M., Reardon W., Malcolm S. Hum. Mol. Genet. 4:1077-1082(1995) [PubMed: 7655462] [Abstract] Cited for: VARIANTS CS.
[32]	"Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability." Park W.-J., Meyers G.A., Li X., Theda C., Day D., Orlow S.J., Jones M.C., Jabs E.W. Hum. Mol. Genet. 4:1229-1233(1995) [PubMed: 8528214] [Abstract] Cited for: VARIANTS CS GLY-290; TRP-342 AND CYS-354, VARIANT JWS ARG-342.
[33]	"FGFR2 mutations in Pfeiffer syndrome." Lajeunie E., Wei M.H., Bonaventure J., Munnich A., le Merrer M., Renier D. Nat. Genet. 9:108-108(1995) [PubMed: 7719333] [Abstract] Cited for: VARIANT PS ALA-321.
[34]	"Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome." Wilkie A.O.M., Slaney S.F., Oldridge M., Poole M.D., Ashworth G.J., Hockley A.D., Hayward R.D., David D.J., Pulleyn L.J., Rutland P., Malcolm S., Winter R.M., Reardon W. Nat. Genet. 9:165-172(1995) [PubMed: 7719344] [Abstract] Cited for: VARIANTS APRS TRP-252 AND ARG-253.
[35]	"Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes." Rutland P., Pulleyn L.J., Reardon W., Baraister M., Hayward R., Jones B.M., Malcolm S., Winter R.M., Oldridge M., Slaney S.F., Poole M.D., Wilkie A.O.M. Nat. Genet. 9:173-176(1995) [PubMed: 7719345] [Abstract] Cited for: VARIANTS PS PRO-341; ARG-342 AND TYR-342.
[36]	"FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing." Meyers G.A., Day D., Goldberg R., Daentl D.L., Przylepa K.A., Abrams L.J., Graham J.M. Jr., Feingold M., Moeschler J.B., Rawnsley E., Scott A.F., Jabs E.W. Am. J. Hum. Genet. 58:491-498(1996) [PubMed: 8644708] [Abstract] Cited for: VARIANTS CS GLY-268 INS; PHE-342 AND TYR-342, VARIANTS PS PHE-278; ARG-342; SER-342; PRO-344 AND PHE-359, VARIANT JWS PRO-289.
[37]	"Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus." Pulleyn L.J., Reardon W., Wilkes D., Rutland P., Jones B.M., Hayward R., Hall C.M., Brueton L., Chun N., Lammer E., Malcolm S., Winter R.M. Eur. J. Hum. Genet. 4:283-291(1996) [PubMed: 8946174] [Abstract] Cited for: VARIANTS CS CYS-105; GLU-338; CYS-351 AND ARG-384.
[38]	"Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene." Steinberger D., Mulliken J.B., Mueller U. Hum. Mutat. 8:386-390(1996) [PubMed: 8956050] [Abstract] Cited for: VARIANTS CS ILE-331; ASN-ALA-337 INS AND 356-TRP--THR-358 DEL.
[39]	"Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome." Przylepa K.A., Paznekas W.A., Zhang M., Golabi M., Bias W., Bamshad M.J., Carey J.C., Hall B.D., Stevenson R., Orlow S.J., Cohen M.M. Jr., Jabs E.W. Nat. Genet. 13:492-494(1996) [PubMed: 8696350] [Abstract] Cited for: VARIANTS BSCGS CYS-372 AND CYS-375.
[40]	"Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome." Tartaglia M., Valeri S., Velardi F., di Rocco C., Battaglia P.A. Hum. Genet. 99:602-606(1997) [PubMed: 9150725] [Abstract] Cited for: VARIANT PS CYS-290.
[41]	"Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders." Tartaglia M., Di Rocco C., Lajeunie E., Valeri S., Velardi F., Battaglia P.A. Hum. Genet. 101:47-50(1997) [PubMed: 9385368] [Abstract] Cited for: VARIANT JWS SER-342.
[42]	"Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2." Oldridge M., Lunt P.W., Zackai E.H., McDonald-Mcginn D.M., Muenke M., Moloney D.M., Twigg S.R.F., Heath J.K., Howard T.D., Hoganson G., Gagnon D.M., Jabs E.W., Wilkie A.O.M. Hum. Mol. Genet. 6:137-143(1997) [PubMed: 9002682] [Abstract] Cited for: VARIANT CS LEU-252, VARIANT APRS PHE-252, VARIANT PS 252-PHE-SER-253.
[43]	"A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly." Steinberger D., Collmann H., Schmalenberger B., Mueller U. J. Med. Genet. 34:420-422(1997) [PubMed: 9152842] [Abstract] Cited for: VARIANT CS GLU-292.
[44]	"Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses." Passos-Bueno M.R., Sertie A.L., Richieri-Costa A., Alonso L.G., Zatz M., Alonso N., Brunoni D., Ribeiro S.F.M. Am. J. Med. Genet. 78:237-241(1998) [PubMed: 9677057] [Abstract] Cited for: VARIANTS CS PHE-278; PRO-337; ARG-338; ARG-342; PHE-342 AND TYR-342, VARIANTS APRS TRP-252 AND ARG-253, VARIANT JWS PHE-278.
[45]	"The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor." Steinberger D., Vriend G., Mulliken J.B., Mueller U. Hum. Genet. 102:145-150(1998) [PubMed: 9521581] [Abstract] Cited for: VARIANTS CS VAL-276 AND CYS-301, VARIANT CRANIOSYNOSTOSIS SER-314.
[46]	"Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome." Tsai F.-J., Hwu W.-L., Lin S.-P., Chang J.-G., Wang T.-R., Tsai C.-H. Hum. Mutat. Suppl. 1:S18-S19(1998) [PubMed: 9452027] [Abstract] Cited for: VARIANTS APRS TRP-252 AND ARG-253.
[47]	"Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene." Mathijssen I.M., Vaandrager J.M., Hoogeboom A.J., Hesseling-Janssen A.L.W., van den Ouweland A.M.W. J. Craniofac. Surg. 9:207-209(1998) [PubMed: 9693549] [Abstract] Cited for: VARIANT PS CYS-351.
[48]	"Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly." Passos-Bueno M.R., Richieri-Costa A., Sertie A.L., Kneppers A. J. Med. Genet. 35:677-679(1998) [PubMed: 9719378] [Abstract] Cited for: VARIANT PS TRP-252.
[49]	"A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance." Everett E.T., Britto D.A., Ward R.E., Hartsfield J.K. Jr. Cleft Palate Craniofac. J. 36:533-541(1999) [PubMed: 10574673] [Abstract] Cited for: VARIANT CS SER-362.
[50]	"Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome." Cornejo-Roldan L.R., Roessler E., Muenke M. Hum. Genet. 104:425-431(1999) [PubMed: 10394936] [Abstract] Cited for: VARIANTS PS CYS-340 AND GLY-342.
[51]	"Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene." Priolo M., Lerone M., Baffico M., Baldi M., Ravazzolo R., Cama A., Capra V., Silengo M. Clin. Genet. 58:81-83(2000) [PubMed: 10945669] [Abstract] Cited for: VARIANT PS ASP-273 DEL.
[52]	"Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses)." Kress W., Collmann H., Buesse M., Halliger-Keller B., Mueller C.R. Cytogenet. Cell Genet. 91:134-137(2000) [PubMed: 11173845] [Abstract] Cited for: VARIANTS CS/PS ARG-342 AND TYR-342, VARIANTS CS LEU-263; VAL-276; PHE-278; TYR-278; SER-288; PRO-289; PRO-341; TRP-342; CYS-354; TYR-354 AND PHE-359, VARIANT PS SER-342.
[53]	"A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?" Johnson D., Wall S.A., Mann S., Wilkie A.O.M. Eur. J. Hum. Genet. 8:571-577(2000) [PubMed: 10951518] [Abstract] Cited for: VARIANT SER-315.
[54]	"Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?" Reardon W., Smith A., Honour J.W., Hindmarsh P., Das D., Rumsby G., Nelson I., Malcolm S., Ades L., Sillence D., Kumar D., DeLozier-Blanchet C., McKee S., Kelly T., McKeehan W.L., Baraitser M., Winter R.M. J. Med. Genet. 37:26-32(2000) [PubMed: 10633130] [Abstract] Cited for: VARIANTS ABS ARG-342; SER-342 AND CYS-351.
[55]	"Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients." Tsai F.-J., Yang C.-F., Wu J.-Y., Tsai C.-H., Lee C.-C. Pediatr. Int. 43:263-266(2001) [PubMed: 11380921] [Abstract] Cited for: VARIANTS CS CYS-281; PRO-289; ARG-342 AND TYR-342.
[56]	"Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis." Kan S.-H., Elanko N., Johnson D., Cornejo-Roldan L.R., Cook J., Reich E.W., Tomkins S., Verloes A., Twigg S.R.F., Rannan-Eliya S., McDonald-McGinn D.M., Zackai E.H., Wall S.A., Muenke M., Wilkie A.O.M. Am. J. Hum. Genet. 70:472-486(2002) [PubMed: 11781872] [Abstract] Cited for: VARIANTS CS CYS-105; PRO-267; VAL-276; CYS-281; PRO-289; ARG-338; HIS-340; PHE-342; TRP-342; CYS-347; CYS-354; HIS-549 AND GLY-678, VARIANTS PS PHE-172; 252-PHE-SER-253; CYS-290; CYS-340; PRO-341; ARG-342; SER-342; CYS-375; GLY-565; ARG-641 AND GLU-663, VARIANTS APRS TRP-252 AND ARG-253, VARIANTS CS/PS PHE-278 AND TYR-342, VARIANT CRANIOSYNOSTOSIS ASN-659, VARIANTS THR-186 AND SER-315.
[57]	"Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome." Wang T.-J., Huang C.-B., Tsai F.-J., Wu J.-Y., Lai R.-B., Hsiao M. Clin. Genet. 61:218-221(2002) [PubMed: 12000365] [Abstract] Cited for: VARIANT BSCGS CYS-375.
[58]	"Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain." McGillivray G., Savarirayan R., Cox T.C., Stojkoski C., McNeil R., Bankier A., Bateman J.F., Roscioli T., Gardner R.J.M., Lamande S.R. J. Med. Genet. 42:656-662(2005) [PubMed: 16061565] [Abstract] Cited for: VARIANT FSPC GLU-526.
[59]	"Mutations in different components of FGF signaling in LADD syndrome." Rohmann E., Brunner H.G., Kayserili H., Uyguner O., Nuernberg G., Lew E.D., Dobbie A., Eswarakumar V.P., Uzumcu A., Ulubil-Emeroglu M., Leroy J.G., Li Y., Becker C., Lehnerdt K., Cremers C.W.R.J., Yueksel-Apak M., Nuernberg P., Kubisch C. , Schlessinger J., van Bokhoven H., Wollnik B. Nat. Genet. 38:414-417(2006) [PubMed: 16501574] [Abstract] Cited for: VARIANTS LADDS THR-628; THR-648 AND 649-ARG-ASP-650 DELINS SER.
[60]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-203.
[61]	"Patterns of somatic mutation in human cancer genomes." Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R. Nature 446:153-158(2007) [PubMed: 17344846] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-57; THR-186; CYS-203; VAL-272; ASN-283; CYS-290 AND THR-612.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

NIEHS-SNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

X52832 mRNA. Translation: CAA37014.1.
M55614 mRNA. Translation: AAA61188.1.
X56191 mRNA. Translation: CAA39654.1.
M35718 mRNA. Translation: AAA36152.1.
M87770 mRNA. Translation: AAA59470.1.
M87771 mRNA. Translation: AAA59471.1.
M87772 mRNA. Translation: AAA59472.1.
M97193 mRNA. Translation: AAA52449.1.
U11814 mRNA. Translation: AAA68514.1.
M80634 mRNA. Translation: AAA36147.1.
Z71929 mRNA. Translation: CAA96492.1.
AB030073 mRNA. Translation: BAA89296.1.
AB030074 mRNA. Translation: BAA89297.1.
AB030075 mRNA. Translation: BAA89298.1.
AB030076 mRNA. Translation: BAA89299.1.
AB030077 mRNA. Translation: BAA89300.1.
AB030078 mRNA. Translation: BAA89301.1.
AF360695, AF410480 Genomic DNA. Translation: AAK94205.1.
AF360695, AF410480 Genomic DNA. Translation: AAK94206.1.
AF360695, AF410480 Genomic DNA. Translation: AAK94207.1.
AF360695, AF410480 Genomic DNA. Translation: AAK94208.1.
AF360695, AF410480 Genomic DNA. Translation: AAK94209.1.
AF487553 Genomic DNA. Translation: AAM74056.1.
DQ493927 Genomic DNA. Translation: ABE96832.1.
BC039243 mRNA. Translation: AAH39243.2.
AF169399 Genomic DNA. Translation: AAF43273.1.
AF169399 Genomic DNA. Translation: AAF43274.1.
AF097353 , AF097341, AF097342, AF097343, AF097345, AF097346, AF097347, AF097348, AF097349, AF097350, AF097351, AF097352 Genomic DNA. Translation: AAD31560.1.
AF097353 , AF097341, AF097342, AF097344, AF097345, AF097346, AF097347, AF097348, AF097349, AF097350, AF097351, AF097352 Genomic DNA. Translation: AAD31561.1.
AF097340 , AF097337, AF097338, AF097339 Genomic DNA. Translation: AAD31562.1.
AF097354 Genomic DNA. Translation: AAD31565.1.
AF097341 Genomic DNA. Translation: AAD31567.1.
S82438 Genomic DNA. Translation: AAD14392.1.
Y17131 Genomic DNA. Translation: CAA76643.1.
L49237 Genomic DNA. Translation: AAC41933.1.
L49242 Genomic DNA. Translation: AAC41934.1.
L49238 Genomic DNA. Translation: AAC41935.1.
L49239 Genomic DNA. Translation: AAC41936.1.
L49240 Genomic DNA. Translation: AAC41937.1.
L49241 Genomic DNA. Translation: AAC41938.1.

IPI

IPI00010680.
IPI00216602.
IPI00216603.
IPI00216604.
IPI00216605.
IPI00218416.
IPI00218417.
IPI00218418.
IPI00218419.
IPI00218420.
IPI00218421.
IPI00218422.
IPI00218423.
IPI00218425.
IPI00384713.
IPI00386650.
IPI00647907.
IPI00759837.
IPI00873362.
IPI00942110.

PIR

A35969.
TVHUF2. A42691.
A45081.
C42691.
S16236.

RefSeq

NP_000132.3.
NP_001138385.1.
NP_001138386.1.
NP_001138387.1.
NP_001138388.1.
NP_001138389.1.
NP_001138390.1.
NP_001138391.1.
NP_075259.4.

UniGene

Hs.533683

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1DJS	X-ray	2.40	A	153-362	[»]
1E0O	X-ray	2.80	B/D	148-366	[»]
1EV2	X-ray	2.20	E/F/G/H	147-366	[»]
1GJO	X-ray	2.40	A	456-768	[»]
1II4	X-ray	2.70	E/F/G/H	147-366	[»]
1IIL	X-ray	2.30	E/F/G/H	147-366	[»]
1NUN	X-ray	2.90	B	140-361	[»]
1OEC	X-ray	2.40	A	456-768	[»]
1WVZ	NMR	-	A	147-249	[»]
2FDB	X-ray	2.28	P/R	149-368	[»]
2PSQ	X-ray	2.40	A/B	413-768	[»]
2PVF	X-ray	1.80	A	458-778	[»]
			B	764-778	[»]
2PVY	X-ray	2.20	A/B/C/D	458-768	[»]
2PWL	X-ray	2.40	A/B	458-768	[»]
2PY3	X-ray	2.30	A/B	458-768	[»]
2PZ5	X-ray	2.40	A/B	458-768	[»]
2PZP	X-ray	2.40	A/B	458-768	[»]
2PZR	X-ray	3.00	A/B	458-768	[»]
2Q0B	X-ray	2.90	A/B	458-768	[»]
3B2T	X-ray	1.80	A/B	458-766	[»]
3CAF	X-ray	1.96	A	150-249	[»]
3CLY	X-ray	2.00	A	458-778	[»]
3CU1	X-ray	2.60	A/C	150-249	[»]
3DAR	X-ray	2.20	A/B	146-249	[»]
3EUU	X-ray	2.34	A/B	150-249	[»]

SMR

P21802. Positions 44-125, 49-357, 479-792.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-3788N.
DIP-4011N.

IntAct

P21802. 4 interactions.

STRING

P21802.

PTM databases

PhosphoSite

P21802.

Proteomic databases

PRIDE

P21802.

Genome annotation databases

Ensembl

ENST00000357555; ENSP00000350166; ENSG00000066468; Homo sapiens. [Genome view]
ENST00000358487; ENSP00000351276; ENSG00000066468; Homo sapiens. [Genome view]

GeneID

2263.

KEGG

hsa:2263.

UCSC

uc001lfj.2. human.
uc001lfm.1. human.
uc001lfo.1. human.
uc009xzo.1. human.
uc009xzp.1. human.
uc009xzq.1. human.
uc009xzr.1. human.

Organism-specific databases

CTD

2263.

GeneCards

GC10M123223.

H-InvDB

HIX0009266.

HGNC

HGNC:3689. FGFR2.

HPA

CAB010886.

MIM

101200. phenotype.
101600. phenotype.
123150. phenotype.
123500. phenotype.
123790. phenotype.
149730. phenotype.
176943. gene.
207410. phenotype.
609579. phenotype.

Orphanet

83. Antley-Bixler syndrome.
87. Apert syndrome.
207. Crouzon disease.
1555. Cutis gyrata - acanthosis nigricans - craniosynostosis.
168624. Familial scaphocephaly syndrome, McGillivray type.
1540. Jackson-Weiss syndrome.
2363. Lacrimo-auriculo-dento-digital syndrome.
710. Pfeiffer syndrome.
93258. Pfeiffer syndrome, type 1.
93259. Pfeiffer syndrome, type 2.

PharmGKB

PA28128.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG07516.

HOVERGEN

P21802.

Enzyme and pathway databases

BRENDA

2.7.10.1. 247.

Pathway_Interaction_DB

fgf_pathway. FGF signaling pathway.

Reactome

REACT_9470. Signaling by FGFR.

Gene expression databases

ArrayExpress

P21802.

Bgee

P21802.

Genevestigator

P21802.

GermOnline

ENSG00000066468. Homo sapiens.

Family and domain databases

InterPro

IPR007110. Ig-like.
IPR013783. Ig-like_fold.
IPR003598. Ig_sub2.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_cat_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR020933. Tyr_kin_fibroblast_GF_rcpt_reg.
IPR016248. Tyr_kinase_fibroblast_GF_rcpt.
IPR020635. Tyr_Pkinase_cat_dom.
IPR020685. Tyr_prot_kinase.
IPR008266. Tyr_prot_kinase_AS.
[Graphical view]

Gene3D

G3DSA:2.60.40.10. Ig-like_fold. 3 hits.

PANTHER

PTHR23256:SF276. Tyr_kinase_fibroblast_GF_rcpt. 1 hit.
PTHR23256. Tyr_prot_kinase. 1 hit.

PIRSF

PIRSF000628. FGFR. 1 hit.

SMART

SM00408. IGc2. 3 hits.
SM00219. TyrKc. 1 hit.
[Graphical view]

PROSITE

PS50835. IG_LIKE. 3 hits.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00109. PROTEIN_KINASE_TYR. 1 hit.
[Graphical view]

ProtoNet

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Other Resources

DrugBank

DB00039. Palifermin.

SOURCE

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Entry information

Entry name

FGFR2_HUMAN

Accession

Primary (citable) accession number: P21802
Secondary accession number(s): P18443 , Q01742, Q12922, Q14300, Q14301, Q14302, Q14303, Q14304, Q14305, Q14672, Q14718, Q14719, Q1KHY5, Q86YI4, Q96KL9, Q96KM0, Q96KM1, Q96KM2, Q9NZU2, Q9NZU3, Q9UD01, Q9UD02, Q9UIH3, Q9UIH4, Q9UIH5, Q9UIH6, Q9UIH7, Q9UIH8, Q9UM87, Q9UMC6, Q9UNS7, Q9UQH7, Q9UQH8, Q9UQH9, Q9UQI0

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 1, 1991
Last sequence update:	May 1, 1991
Last modified:	February 9, 2010
This is version 143 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.