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Reviewed, UniProtKB/Swiss-Prot P07949 (RET_HUMAN)

Last modified February 9, 2010. Version 147. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Proto-oncogene tyrosine-protein kinase receptor Ret
    EC=2.7.10.1
Alternative name(s):
    Proto-oncogene c-Ret
    Cadherin family member 12
Gene names
Name: RET
Synonyms: CDHF12
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1114 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Probable receptor with tyrosine-protein kinase activity; important for development.

Catalytic activity

ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.

Subunit structure

Phosphorylated form interacts with the PBT domain of DOK2, DOK4 and DOK5 By similarity.

Subcellular location

Membrane; Single-pass type I membrane protein.

Post-translational modification

Autophosphorylated on C-terminal tyrosine residues upon ligand stimulation. Ref.9 Ref.10 Ref.13

Polymorphism

The Cys-982 polymorphism may be associated with an increased risk for developing Hirschsprung disease.

Involvement in disease

Defects in RET may be a cause of colorectal cancer (CRC) [MIM:114500].

Defects in RET are a cause of Hirschsprung disease (HSCR) [MIM:142623]. HSCR is a genetic disorder of neural crest development characterized by the absence of intramural ganglion cells in the hindgut, often resulting in intestinal obstruction. Occasionally, MEN2A or FMTC occur in association with HSCR. Ref.18 Ref.23 Ref.25 Ref.26 Ref.30 Ref.31 Ref.34 Ref.36 Ref.41 Ref.45 Ref.56 Ref.57 Ref.62

Defects in RET are the cause of medullary thyroid carcinoma (MTC) [MIM:155240]. MTC is a rare tumor derived from the C cells of the thyroid. Three hereditary forms are known, that are transmitted in an autosomal dominant fashion: (a) multiple neoplasia type 2A (MEN2A), (b) multiple neoplasia type IIB (MEN2B) and (c) familial MTC (FMTC), which occurs in 25-30% of MTC cases and where MTC is the only clinical manifestation. Ref.21 Ref.22 Ref.28 Ref.33 Ref.34 Ref.37 Ref.38 Ref.42 Ref.44 Ref.46 Ref.49 Ref.53 Ref.54 Ref.55 Ref.58 Ref.60 Ref.63

Defects in RET are the cause of multiple neoplasia type 2B (MEN2B) [MIM:162300]. MEN2B is an uncommon inherited cancer syndrome characterized by predisposition to MTC and phaeochromocytoma which is associated with marfanoid habitus, mucosal neuromas, skeletal and ophtalmic abnormalities, and ganglioneuromas of the intestine tract. Then the disease progresses rapidly with the development of metastatic MTC and a pheochromocytome in 50% of cases. Ref.28 Ref.38 Ref.46 Ref.19 Ref.24 Ref.27 Ref.32 Ref.43 Ref.47

Defects in RET are a cause of pheochromocytoma [MIM:171300]. The pheochromocytomas are catecholamine-producing, chromaffin tumors that arise in the adrenal medulla in 90% of cases. In the remaining 10% of cases, they develop in extra-adrenal sympathetic ganglia and may be referred to as "paraganglioma." Pheochromocytoma usually presents with hypertension. Approximately 10% of pheochromocytoma is hereditary. The genetic basis for most cases of non-syndromic familial pheochromocytoma is unknown. Ref.64

Defects in RET are the cause of multiple neoplasia type 2A (MEN2A) [MIM:171400]; also known as multiple neoplasia type 2 (MEN2). MEN2A is the most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism.

Chromosomal aberrations involving RET are a cause of thyroid papillary carcinoma (PACT) [MIM:188550]. Inversion inv(10)(q11.2;q21) generates the RET/CCDC6 (PTC1) oncogene; inversion inv(10)(q11.2;q11.2) generates the RET/NCOA4 (PTC3) oncogene; translocation t(10;14)(q11;q32) with GOLGA5 generates the RET/GOLGA5 (PTC5) oncogene; translocation t(8;10)(p21.3;q11.2) with PCM1 generates the PCM1/RET fusion; translocation t(6;10)(p21.3;q11.2) with RFP generates the Delta RFP/RET oncogene; translocation t(1;10)(p13;q11) with TRIM33 generates the TRIM33/RET (PTC7) oncogene; translocation t(7;10)(q32;q11) with TIF1 generates the TIF1/RET (PTC6) oncogene. The PTC5 oncogene has been found in 2 cases of PACT in children exposed to radioactive fallout after Chernobyl.

Defects in RET are a cause of renal adysplasia [MIM:191830]; also known as renal agenesis or renal aplasia. Renal agenesis refers to the absence of one (unilateral) or both (bilateral) kidneys at birth. Bilateral renal agenesis belongs to a group of perinatally lethal renal diseases, including severe bilateral renal dysplasia, unilateral renal agenesis with contralateral dysplasia and severe obstructive uropathy.

Defects in RET are a cause of congenital central hypoventilation syndrome (CCHS) [MIM:209880]; also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Ref.48 Ref.65 Ref.66

Sequence similarities

Belongs to the protein kinase superfamily. Tyr protein kinase family.

Contains 1 cadherin domain.

Contains 1 protein kinase domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2828 Potential
Chain29 – 11141086Proto-oncogene tyrosine-protein kinase receptor Ret
PRO_0000024450

Regions

Topological domain29 – 635607Extracellular Potential
Transmembrane636 – 65722 Potential
Topological domain658 – 1114457Cytoplasmic Potential
Domain168 – 272105Cadherin
Domain724 – 1016293Protein kinase
Nucleotide binding730 – 7389ATP By similarity

Sites

Active site8741Proton acceptor By similarity
Binding site7581ATP By similarity
Site712 – 7132Breakpoint for translocation to form PCM1-RET; RET-CCDC6; RET-GOLGA5; RET-TIF1 and RET-TRIM33 oncogenes

Amino acid modifications

Modified residue6961Phosphoserine
Modified residue8061Phosphotyrosine; by autocatalysis Ref.10
Modified residue8091Phosphotyrosine; by autocatalysis Ref.10
Modified residue9001Phosphotyrosine; by autocatalysis Ref.10 Ref.13
Modified residue9051Phosphotyrosine; by autocatalysis Ref.10 Ref.13
Modified residue9811Phosphotyrosine; by autocatalysis Ref.10
Modified residue10151Phosphotyrosine; by autocatalysis Ref.9 Ref.10
Modified residue10621Phosphotyrosine; by autocatalysis Ref.9 Ref.10
Modified residue10901Phosphotyrosine; by autocatalysis Ref.10
Modified residue10961Phosphotyrosine; by autocatalysis Ref.10
Glycosylation981N-linked (GlcNAc...) Potential
Glycosylation1511N-linked (GlcNAc...) Potential
Glycosylation1991N-linked (GlcNAc...) Potential
Glycosylation3361N-linked (GlcNAc...) Potential
Glycosylation3431N-linked (GlcNAc...) Potential
Glycosylation3611N-linked (GlcNAc...) Potential
Glycosylation3671N-linked (GlcNAc...) Potential
Glycosylation3771N-linked (GlcNAc...) Potential
Glycosylation3941N-linked (GlcNAc...) Potential
Glycosylation4481N-linked (GlcNAc...) Potential
Glycosylation4681N-linked (GlcNAc...) Potential
Glycosylation5541N-linked (GlcNAc...) Potential

Natural variations

Natural variant201P → L in HSCR; sporadic form. Ref.30
VAR_009459
Natural variant321S → L in HSCR; familial form. Ref.26 Ref.62
VAR_006295
Natural variant401L → P in HSCR. Ref.18 Ref.36
VAR_009492
Natural variant641P → L in HSCR; familial form. Ref.26
VAR_006296
Natural variant671R → H in CCHS. Ref.66
VAR_018153
Natural variant771R → C in HSCR. Ref.62
VAR_009460
Natural variant931G → S in HSCR; could be a rare polymorphism. Ref.30
VAR_006297
Natural variant1141R → H in CCHS. Ref.65 Ref.66
VAR_018154
Natural variant1421C → S in HSCR; sporadic form.
VAR_006298
Natural variant1451V → G in a colorectal cancer sample; somatic mutation. Ref.67
VAR_035711
Natural variant1571C → Y in HSCR; could be a polymorphism. Ref.34
VAR_009461
Natural variant1631R → Q in a colorectal adenocarcinoma sample; somatic mutation. Ref.68
VAR_041762
Natural variant1741F → S in HSCR; sporadic form. Ref.45
VAR_009462
Natural variant1801R → P in HSCR; sporadic form. Ref.41
VAR_009463
Natural variant1971C → Y in HSCR; sporadic form. Ref.45
VAR_009464
Natural variant1981P → T in renal adysplasia; prevents phosphorylation in response to GDNF. Ref.69
VAR_044392
Natural variant2311R → H in HSCR; familial form.
VAR_006299
Natural variant2511E → K in HSCR; familial form.
VAR_006300
Natural variant2781T → N: dbSNP rs35118262. Ref.68
VAR_041763
Natural variant2871R → Q in HSCR; sporadic form.
VAR_006301
Natural variant2921V → M: dbSNP rs34682185. Ref.68
VAR_041764
Natural variant3131R → Q in HSCR; sporadic form. Ref.41
VAR_009465
Natural variant3301R → Q in HSCR. Ref.26 Ref.30
VAR_006302
Natural variant3591N → K in HSCR; could be a polymorphism. Ref.34
VAR_009466
Natural variant3601R → W in HSCR. Ref.62 Ref.67
VAR_009467
Natural variant3761V → A in renal adysplasia; constitutively phosphorylated; expressed only the immature intracellular form. Ref.69
VAR_044393
Natural variant3931F → L in HSCR; familial form. Ref.26
VAR_006303
Natural variant3941N → H in renal adysplasia; prevents phosphorylation in response to GDNF. Ref.69
VAR_044394
Natural variant3941N → K in HSCR. Ref.62
VAR_009468
Natural variant3991P → L in HSCR; sporadic form. Ref.18
VAR_006304
Natural variant4321A → E in CCHS. Ref.66
VAR_018155
Natural variant4751R → Q in HSCR; sporadic form.
VAR_006305
Natural variant4891D → N: dbSNP rs9282834. Ref.66 Ref.68
VAR_018156
Natural variant5311C → CEEC in MTC; familial form.
VAR_009469
Natural variant5931G → E in a colorectal cancer sample; somatic mutation. Ref.67
VAR_035712
Natural variant6001R → Q Probably a rare polymorphism. Ref.61
VAR_008966
Natural variant6091C → G in MEN2A.
VAR_009470
Natural variant6091C → R in MEN2A.
VAR_009471
Natural variant6091C → W in HSCR; familial form. Ref.23
VAR_006307
Natural variant6091C → Y in MTC, MEN2A and HSCR; familial and sporadic forms. Ref.30 Ref.34 Ref.21 Ref.51
VAR_006306
Natural variant6111C → G in MTC; familial form. Ref.49
VAR_009472
Natural variant6111C → R in MEN2A.
VAR_009473
Natural variant6111C → S in MEN2A.
VAR_009474
Natural variant6111C → W in MEN2A and MTC; familial form. Ref.16
VAR_006308
Natural variant6111C → Y in MEN2A.
VAR_006309
Natural variant6181C → F in MEN2A and MTC; familial form.
VAR_006312
Natural variant6181C → G in MEN2A. Ref.17
VAR_006310
Natural variant6181C → R in MEN2A, MTC and HSCR. Ref.23 Ref.21 Ref.42 Ref.20
VAR_006311
Natural variant6181C → S in MEN2A, HSCR and MTC; familial and sporadic forms. Ref.21 Ref.16 Ref.20 Ref.29 Ref.51
VAR_006313
Natural variant6181C → Y in MEN2A and MTC; familial form.
VAR_006314
Natural variant6201C → F in MEN2A and MTC; familial form. Ref.20
VAR_006318
Natural variant6201C → G in MEN2A and MTC; familial and sporadic forms.
VAR_006315
Natural variant6201C → R in MEN2A, MTC and HSCR; familial and sporadic forms. Ref.23 Ref.30 Ref.34 Ref.41 Ref.16 Ref.20 Ref.51
VAR_006316
Natural variant6201C → S in MEN2A and MTC; familial form. Ref.21 Ref.29
VAR_006317
Natural variant6201C → W in MEN2A and HSCR. Ref.51
VAR_009475
Natural variant6201C → Y in MEN2A. Ref.16
VAR_006319
Natural variant6261Q → K in HSCR; sporadic form. Ref.56
VAR_009476
Natural variant6301C → F in MEN2A and MTC; familial form.
VAR_006320
Natural variant6301C → S in MTC; sporadic form.
VAR_009477
Natural variant6301C → Y in MTC; familial and sporadic forms.
VAR_009478
Natural variant6311D → G in thyroid carcinoma; somatic mutation.
VAR_006321
Natural variant632 – 6343ELC → DVR in MEN2A.
VAR_006322
Natural variant634 – 6352CR → WG in MEN2A.
VAR_006329
Natural variant6341C → CHELC in MEN2A.
VAR_009479
Natural variant6341C → F in MEN2A and pheochromocytoma. Ref.64 Ref.17 Ref.20
VAR_006324
Natural variant6341C → G in MEN2A and pheochromocytoma. Ref.64 Ref.17 Ref.20
VAR_006323
Natural variant6341C → R in MEN2A, pheochromocytoma and MTC; familial form; also found as somatic mutation in a sporadic thyroid carcinoma. Ref.64 Ref.16 Ref.17 Ref.29
VAR_006326
Natural variant6341C → S in MEN2A, pheochromocytoma and MTC; familial form. Ref.64 Ref.17
VAR_006327
Natural variant6341C → W in MEN2A, pheochromocytoma and MTC; familial form. Ref.64
VAR_006328
Natural variant6341C → Y in MEN2A, pheochromocytoma and MTC; familial form. Ref.64 Ref.17 Ref.20 Ref.29
VAR_006325
Natural variant6361T → TCRT in MEN2A.
VAR_006330
Natural variant6391A → G in MTC; sporadic form. Ref.63
VAR_012743
Natural variant6401A → G in MEN2A. Ref.59
VAR_009480
Natural variant6411A → G in MTC; sporadic form. Ref.63
VAR_012744
Natural variant6901S → P in HSCR; sporadic form.
VAR_006331
Natural variant6911G → S: dbSNP rs1799939. Ref.46 Ref.48 Ref.66 Ref.68
VAR_006332
Natural variant7491R → T: dbSNP rs34288963. Ref.68
VAR_041765
Natural variant7621E → Q in HSCR; sporadic form. Ref.18
VAR_009481
Natural variant7651S → P in HSCR. Ref.18 Ref.25 Ref.36
VAR_009493
Natural variant7671S → R in HSCR; sporadic form.
VAR_006334
Natural variant7681E → D in MTC; familial and sporadic forms. Ref.33 Ref.34 Ref.38
VAR_006335
Natural variant7781V → I in renal adysplasia; constitutively phosphorylated. Ref.69
VAR_044395
Natural variant7901L → F in MEN2A and MTC; familial form. Ref.54
VAR_009482
Natural variant7911Y → F in HSCR, pheochromocytoma, MTC and MEN2A; familial form. Ref.41 Ref.54 Ref.64
VAR_009483
Natural variant8041V → L in MTC; familial form. Ref.34
VAR_006336
Natural variant8041V → M in MTC; familial form. Ref.53 Ref.60
VAR_006337
Natural variant8131R → Q in HSCR; sporadic form. Ref.56
VAR_009484
Natural variant8261Y → S: dbSNP rs34617196. Ref.68
VAR_041766
Natural variant8441R → L in MTC; familial form. dbSNP rs55947360. Ref.60 Ref.68
VAR_011582
Natural variant8731R → Q in HSCR; sporadic form.
VAR_006338
Natural variant8831A → F in MEN2B; somatic mutation in sporadic medullary thyroid carcinoma; requires 2 nucleotide substitutions. Ref.43 Ref.47
VAR_009485
Natural variant8911S → A in MTC; familial form. Ref.44
VAR_009486
Natural variant8931F → L in HSCR; sporadic form.
VAR_006339
Natural variant8941G → S in renal adysplasia; constitutively phosphorylated; expressed only the immature intracellular form. Ref.69
VAR_044396
Natural variant8971R → Q in HSCR; sporadic form. Ref.18 Ref.25
VAR_006340
Natural variant9071K → E in HSCR; sporadic form.
VAR_006341
Natural variant9181M → T in renal adysplasia, MEN2B and MTC; sporadic form; somatic mutation. Ref.38 Ref.19 Ref.24 Ref.27 Ref.32 Ref.69
VAR_006342
Natural variant9211E → K in HSCR; sporadic form.
VAR_006343
Natural variant9221S → F in MTC; sporadic form. Ref.63
VAR_012745
Natural variant9221S → Y Rare polymorphism. Ref.32
VAR_009487
Natural variant9461T → M in MEN2B and MTC; familial form.
VAR_006345
Natural variant9721R → G in HSCR; familial form. Ref.18 Ref.25
VAR_006346
Natural variant9731P → L in HSCR; familial form. Ref.18
VAR_006347
Natural variant9801M → T in HSCR; sporadic form.
VAR_006348
Natural variant9821R → C: dbSNP rs17158558. Ref.30 Ref.66 Ref.68 Ref.50
VAR_006349
Natural variant10391P → L in CCHS; with colonic aganglionosis. Ref.48
VAR_018157
Natural variant10391P → Q
VAR_009488
Natural variant10491P → L in renal adysplasia; prevents phosphorylation in response to GDNF. Ref.69
VAR_044397
Natural variant10591Missing in HSCR.
VAR_009489
Natural variant10611L → P in HSCR. Ref.34 Ref.57
VAR_009490
Natural variant10641M → T in HSCR; familial form.
VAR_009491
Natural variant10671P → S in renal adysplasia; prevents phosphorylation in response to GDNF. Ref.69
VAR_044398
Natural variant11121F → Y in a bladder transitional cell carcinoma sample; somatic mutation. Ref.68
VAR_041767

Experimental info

Sequence conflict6471I → V in AAA36786. Ref.3
Sequence conflict7501A → G in AAA36524. Ref.6
Sequence conflict9041S → P in AAA36786. Ref.3

Secondary structure

................................................. 1114
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P07949-1 [UniParc].

Last modified June 1, 1994. Version 3.
Checksum: A3DA0CE01A19A441

FASTA1,114124,319
        10         20         30         40         50         60 
MAKATSGAAG LRLLLLLLLP LLGKVALGLY FSRDAYWEKL YVDQAAGTPL LYVHALRDAP 

        70         80         90        100        110        120 
EEVPSFRLGQ HLYGTYRTRL HENNWICIQE DTGLLYLNRS LDHSSWEKLS VRNRGFPLLT 

       130        140        150        160        170        180 
VYLKVFLSPT SLREGECQWP GCARVYFSFF NTSFPACSSL KPRELCFPET RPSFRIRENR 

       190        200        210        220        230        240 
PPGTFHQFRL LPVQFLCPNI SVAYRLLEGE GLPFRCAPDS LEVSTRWALD REQREKYELV 

       250        260        270        280        290        300 
AVCTVHAGAR EEVVMVPFPV TVYDEDDSAP TFPAGVDTAS AVVEFKRKED TVVATLRVFD 

       310        320        330        340        350        360 
ADVVPASGEL VRRYTSTLLP GDTWAQQTFR VEHWPNETSV QANGSFVRAT VHDYRLVLNR 

       370        380        390        400        410        420 
NLSISENRTM QLAVLVNDSD FQGPGAGVLL LHFNVSVLPV SLHLPSTYSL SVSRRARRFA 

       430        440        450        460        470        480 
QIGKVCVENC QAFSGINVQY KLHSSGANCS TLGVVTSAED TSGILFVNDT KALRRPKCAE 

       490        500        510        520        530        540 
LHYMVVATDQ QTSRQAQAQL LVTVEGSYVA EEAGCPLSCA VSKRRLECEE CGGLGSPTGR 

       550        560        570        580        590        600 
CEWRQGDGKG ITRNFSTCSP STKTCPDGHC DVVETQDINI CPQDCLRGSI VGGHEPGEPR 

       610        620        630        640        650        660 
GIKAGYGTCN CFPEEEKCFC EPEDIQDPLC DELCRTVIAA AVLFSFIVSV LLSAFCIHCY 

       670        680        690        700        710        720 
HKFAHKPPIS SAEMTFRRPA QAFPVSYSSS GARRPSLDSM ENQVSVDAFK ILEDPKWEFP 

       730        740        750        760        770        780 
RKNLVLGKTL GEGEFGKVVK ATAFHLKGRA GYTTVAVKML KENASPSELR DLLSEFNVLK 

       790        800        810        820        830        840 
QVNHPHVIKL YGACSQDGPL LLIVEYAKYG SLRGFLRESR KVGPGYLGSG GSRNSSSLDH 

       850        860        870        880        890        900 
PDERALTMGD LISFAWQISQ GMQYLAEMKL VHRDLAARNI LVAEGRKMKI SDFGLSRDVY 

       910        920        930        940        950        960 
EEDSYVKRSQ GRIPVKWMAI ESLFDHIYTT QSDVWSFGVL LWEIVTLGGN PYPGIPPERL 

       970        980        990       1000       1010       1020 
FNLLKTGHRM ERPDNCSEEM YRLMLQCWKQ EPDKRPVFAD ISKDLEKMMV KRRDYLDLAA 

      1030       1040       1050       1060       1070       1080 
STPSDSLIYD DGLSEEETPL VDCNNAPLPR ALPSTWIENK LYGMSDPNWP GESPVPLTRA 

      1090       1100       1110 
DGTNTGFPRY PNDSVYANWM LSPSAAKLMD TFDS 

« Hide

References

« Hide 'large scale' references
[1]"Isolation of ret proto-oncogene cDNA with an amino-terminal signal sequence."
Takahashi M.
Oncogene 4:805-806(1989) [PubMed: 2660074] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-280.
[2]"Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains."
Takahashi M., Buma Y., Iwamoto T., Inaguma Y., Ikeda H., Hiai H.
Oncogene 3:571-578(1988) [PubMed: 3078962] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 255-1114.
[3]"ret transforming gene encodes a fusion protein homologous to tyrosine kinases."
Takahashi M., Cooper G.M.
Mol. Cell. Biol. 7:1378-1385(1987) [PubMed: 3037315] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 588-1063.
[4]"Activation of the ret-II oncogene without a sequence encoding a transmembrane domain and transforming activity of two ret-II oncogene products differing in carboxy-termini due to alternative splicing."
Ishizaka Y., Ochiai M., Tahira T., Suhimura T., Nahao M.
Oncogene 4:789-794(1989) [PubMed: 2734021] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 713-1114, CHROMOSOMAL TRANSLOCATION WITH GOLGA5.
Tissue: Fibroblast.
[5]Erratum
Ishizaka Y., Ochiai M., Tahira T., Suhimura T., Nahao M.
Oncogene 4:1415-1415(1989)
[6]"PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas."
Grieco M., Santoro M., Berlingieri M.T., Melillo R.M., Donghi R., Bongarzone I., Pierotti M.A., Della Porta G., Fusco A., Vecchio G.
Cell 60:557-563(1990) [PubMed: 2406025] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 713-1114, CHROMOSOMAL TRANSLOCATION WITH CCDC6.
Tissue: Thyroid papillary carcinoma.
[7]"RET/PCM-1: a novel fusion gene in papillary thyroid carcinoma."
Corvi R., Berger N., Balczon R., Romeo G.
Oncogene 19:4236-4242(2000) [PubMed: 10980597] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 713-770, CHROMOSOMAL TRANSLOCATION WITH PCM1.
[8]"The transcription coactivator HTIF1 and a related protein are fused to the RET receptor tyrosine kinase in childhood papillary thyroid carcinomas."
Klugbauer S., Rabes H.M.
Oncogene 18:4388-4393(1999) [PubMed: 10439047] [Abstract]
Cited for: CHROMOSOMAL TRANSLOCATION WITH TRIM33 AND TIF1.
[9]"Tyrosines 1015 and 1062 are in vivo autophosphorylation sites in ret and ret-derived oncoproteins."
Salvatore D., Barone M.V., Salvatore G., Melillo R.M., Chiappetta G., Mineo A., Fenzi G., Vecchio G., Fusco A., Santoro M.
J. Clin. Endocrinol. Metab. 85:3898-3907(2000) [PubMed: 11061555] [Abstract]
Cited for: PHOSPHORYLATION AT TYR-1015 AND TYR-1062.
[10]"Identification of RET autophosphorylation sites by mass spectrometry."
Kawamoto Y., Takeda K., Okuno Y., Yamakawa Y., Ito Y., Taguchi R., Kato M., Suzuki H., Takahashi M., Nakashima I.
J. Biol. Chem. 279:14213-14224(2004) [PubMed: 14711813] [Abstract]
Cited for: PHOSPHORYLATION AT TYR-806; TYR-809; TYR-900; TYR-905; TYR-981; TYR-1015; TYR-1062; TYR-1090 AND TYR-1096.
[11]"Novel tumorigenic rearrangement, Delta rfp/ret, in a papillary thyroid carcinoma from externally irradiated patient."
Saenko V., Rogounovitch T., Shimizu-Yoshida Y., Abrosimov A., Lushnikov E., Roumiantsev P., Matsumoto N., Nakashima M., Meirmanov S., Ohtsuru A., Namba H., Tsyb A., Yamashita S.
Mutat. Res. 527:81-90(2003) [PubMed: 12787916] [Abstract]
Cited for: CHROMOSOMAL TRANSLOCATION WITH RFP.
[12]"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 SER-696, MASS SPECTROMETRY.
[13]"Structure and chemical inhibition of the RET tyrosine kinase domain."
Knowles P.P., Murray-Rust J., Kjaer S., Scott R.P., Hanrahan S., Santoro M., Ibanez C.F., McDonald N.Q.
J. Biol. Chem. 281:33577-33587(2006) [PubMed: 16928683] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 705-1013 ALONE AND IN COMPLEX WITH INHIBITORS, MASS SPECTROMETRY, PHOSPHORYLATION AT TYR-900 AND TYR-905.
[14]"Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype."
Hofstra R.M.W., Osinga J., Buys C.H.C.M.
Eur. J. Hum. Genet. 5:180-185(1997) [PubMed: 9359036] [Abstract]
Cited for: REVIEW ON HSCR VARIANTS.
[15]"Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease."
Eng C., Mulligan L.M.
Hum. Mutat. 9:97-109(1997) [PubMed: 9067749] [Abstract]
Cited for: REVIEW ON VARIANTS.
[16]"Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC."
Donis-Keller H., Dou S., Chi D., Carlson K.M., Toshima K., Lairmore T.C., Howe J.R., Moley J.F., Goodfellow P., Wells S.A. Jr.
Hum. Mol. Genet. 2:851-856(1993) [PubMed: 8103403] [Abstract]
Cited for: VARIANTS MEN2A/MTC TRP-611; SER-618; ARG-620; TYR-620 AND ARG-634.
[17]"Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A."
Mulligan L.M., Kwok J.B.J., Healey C.S., Elsdon M.J., Eng C., Gardner E., Love D.R., Mole S.E., Moore J.K., Papi L., Ponder M.A., Telenius H., Tunnacliffe A., Ponder B.A.J.
Nature 363:458-460(1993) [PubMed: 8099202] [Abstract]
Cited for: VARIANTS MEN2A GLY-618; 632-ASP--ARG-634; GLY-634; PHE-634; TYR-634 AND SER-634.
[18]"Heterogeneity and low detection rate of RET mutations in Hirschsprung disease."
Yin L., Barone V., Seri M., Bolino A., Bocciardi R., Ceccherini I., Pasini B., Tocco T., Lerone M., Cywes S., Moore S., Vanderwinden J.-M., Abramowicz M.J., Kristoffersson U., Larsson L.T., Hamel B.C.J., Silengo M., Martucciello G., Romeo G.
Eur. J. Hum. Genet. 2:272-280(1994) [PubMed: 7704557] [Abstract]
Cited for: VARIANTS HSCR PRO-40; LEU-399; GLN-762; PRO-765; GLN-897; GLY-972 AND LEU-973.
[19]"Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours."
Eng C., Smith D.P., Mulligan L.M., Nagai M.A., Healey C.S., Ponder M.A., Gardner E., Scheumann G.F., Jackson C.E., Tunnacliffe A., Ponder B.A.J.
Hum. Mol. Genet. 3:237-241(1994) [PubMed: 7911697] [Abstract]
Cited for: VARIANT MEN2B THR-918.
[20]"Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests."
Xue F., Yu H., Maurer L.H., Memoli V.A., Nutile-Mcmenemy N., Schuster M.K., Browden D.W., Mao J.-I., Noll W.W.
Hum. Mol. Genet. 3:635-638(1994) [PubMed: 7915165] [Abstract]
Cited for: VARIANTS MEN2A/MTC ARG-618; SER-618; PHE-620; ARG-620; PHE-634; GLY-634 AND TYR-634.
[21]"RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer."
Blaugrund J.E., Johns M.M. Jr., Eby Y.J., Ball D.W., Baylin S.B., Hruban R.H., Sidransky D.
Hum. Mol. Genet. 3:1895-1897(1994) [PubMed: 7849720] [Abstract]
Cited for: VARIANTS MTC/MEN2A TYR-609; ARG-618; SER-618 AND SER-620.
[22]"RET proto-oncogene mutations in French MEN 2A and FMTC families."
Schuffenecker I., Billaud M., Calender A., Chambe B., Ginet N., Calmettes C., Modigliani E., Lenoir G.M.
Hum. Mol. Genet. 3:1939-1943(1994) [PubMed: 7874109] [Abstract]
Cited for: VARIANTS MTC, VARIANTS MEN2A.
[23]"Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene."
Mulligan L.M., Eng C., Attie T., Lyonnet S., Marsh D.J., Hyland V.J., Robinson B.G., Frilling A., Verellen-Dumoulin C., Safar A., Venter D.J., Munnich A., Ponder B.A.J.
Hum. Mol. Genet. 3:2163-2167(1994) [PubMed: 7881414] [Abstract]
Cited for: VARIANT HSCR TRP-609, VARIANT HSCR/MEN2A ARG-618, VARIANT HSCR/MTC ARG-620.
[24]"A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma."
Hofstra R.M.W., Landsvater R.M., Ceccherini I., Stulp R.P., Stelwagen T., Luo Y., Pasini B., Hoeppener J.W.M., Ploos van Amstel H.K., Romeo G., Lips C.J.M., Buys C.H.C.M.
Nature 367:375-376(1994) [PubMed: 7906866] [Abstract]
Cited for: VARIANT MEN2B THR-918.
[25]"Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease."
Romeo G., Ronchetto P., Luo Y., Barone V., Seri M., Ceccherini I., Pasini B., Bocciardi R., Lerone M., Kaarlainen H., Martucciello G.
Nature 367:377-378(1994) [PubMed: 8114938] [Abstract]
Cited for: VARIANTS HSCR PRO-765; GLN-897 AND GLY-972.
[26]"Mutations of the RET proto-oncogene in Hirschsprung's disease."
Edery P., Lyonnet S., Mulligan L.M., Pelet A., Dow E., Abel L., Holder S., Nihoul-Fkete C., Ponder B.A.J., Munnich A.
Nature 367:378-380(1994) [PubMed: 8114939] [Abstract]
Cited for: VARIANTS HSCR LEU-32; LEU-64; GLN-330 AND LEU-393.
[27]"Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B."
Carlson K.M., Dou S., Chi D., Scavarda N., Toshima K., Jackson C.E., Wells S.A. Jr., Goodfellow P.J., Donis-Keller H.
Proc. Natl. Acad. Sci. U.S.A. 91:1579-1583(1994) [PubMed: 7906417] [Abstract]
Cited for: VARIANT MEN2B THR-918.
[28]"Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas."
Komminoth P., Kunz E.K., Matias-Guiu X., Hiort O., Christiansen G., Colomer A., Roth J., Heitz P.U.
Cancer 76:479-489(1995) [PubMed: 8625130] [Abstract]
Cited for: VARIANTS MTC; MEN2A AND MEN2B.
[29]"Germline mutations of the RET proto-oncogene in eight Japanese patients with multiple endocrine neoplasia type 2A (MEN2A)."
Takiguchi-Shirahama S., Koyama K., Miyauchi A., Wakasugi T., Oishi S., Takami H., Hikiji K., Nakamura Y.
Hum. Genet. 95:187-190(1995) [PubMed: 7860065] [Abstract]
Cited for: VARIANTS MEN2A SER-618; SER-620; ARG-634 AND TYR-634.
[30]"Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease."
Angrist M., Bolk S., Thiel B., Puffenberger E.G., Hofstra R.M.W., Buys C.H.C.M., Cass D.T., Chakravarti A.
Hum. Mol. Genet. 4:821-830(1995) [PubMed: 7633441] [Abstract]
Cited for: VARIANTS HSCR LEU-20; SER-93; GLN-330; TYR-609 AND ARG-620, VARIANT CYS-982.
Tissue: Blood.
[31]"Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease."
Attie T., Pelet A., Edery P., Eng C., Mulligan L.M., Amiel J., Boutrand L., Beldjord C., Nihoul-Fekete C., Munnich A., Ponder B.A.J., Lyonnet S.
Hum. Mol. Genet. 4:1381-1386(1995) [PubMed: 7581377] [Abstract]
Cited for: VARIANTS HSCR.
Tissue: Leukocyte.
[32]"Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B."
Kitamura Y., Scavarda N., Wells S.A. Jr., Jackson C.E., Goodfellow P.J.
Hum. Mol. Genet. 4:1987-1988(1995) [PubMed: 8595427] [Abstract]
Cited for: VARIANT MEN2B THR-918, VARIANT TYR-922.
[33]"A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC."
Eng C., Smith D.P., Mulligan L.M., Healey C.S., Zvelebil M.J., Stonehouse T.J., Ponder M.A., Jackson C.E., Waterfield M.D., Ponder B.A.J.
Oncogene 10:509-513(1995) [PubMed: 7845675] [Abstract]
Cited for: VARIANT MTC ASP-768.
[34]"RET mutations in exons 13 and 14 of FMTC patients."
Bolino A., Schuffenecker I., Luo Y., Seri M., Silengo M., Tocco T., Chabrier G., Houdent C., Murat A., Schlumberger M., Tournaire J., Lenoir G.M., Romeo G.
Oncogene 10:2415-2419(1995) [PubMed: 7784092] [Abstract]
Cited for: VARIANTS MTC ASP-768 AND LEU-804.
[35]"Mutations in three genes are found associated with the development of Hirschsprung disease: RET, EDNRB and EDN3."
Hofstra R.M.W., Osinga J., Stulp R.P., Scheffer H., Meijers C., Buys C.H.C.M.
Am. J. Hum. Genet. 59:A263-A263(1996)
Cited for: VARIANTS HSCR TYR-157; LYS-359; TYR-609; ARG-620; ASN-1059 DEL AND PRO-1061.
[36]"Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease."
Yin L., Seri M., Barone V., Tocco T., Scaranari M., Romeo G.
Eur. J. Hum. Genet. 4:356-358(1996) [PubMed: 9043870] [Abstract]
Cited for: VARIANTS HSCR PRO-40 AND PRO-765.
[37]"Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A."
Landsvater R.M., Jansen R.P.M., Hofstra R.M.W., Buys C.H.C.M., Lips C.J.M., van Amstel H.K.P.
Hum. Genet. 97:11-14(1996) [PubMed: 8557249] [Abstract]
Cited for: VARIANTS MTC/MEN2A.
[38]"Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations."
Kambouris M., Jackson C.E., Feldman G.L.
Hum. Mutat. 8:64-70(1996) [PubMed: 8807338] [Abstract]
Cited for: VARIANTS MEN2A, VARIANT MTC ASP-768, VARIANT MEN2B THR-918.
[39]"Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype."
Frank-Raue K., Hoeppner W., Frilling A., Kotzerke J., Dralle H., Haase R., Mann K., Seif F., Kirchner R., Rendl J., Deckart H.F., Ritter M.M., Hampel R., Klempa J., Scholz G.H., Raue F., Bogner U., Brabant G. expand/collapse author list , Grussendorf M., Hartenstein C.H., Heidemann P., Hensen J., Doerr A.G., Hoehne T., Hoernig-Franz I., Huefner M., Kress J., Langer H.J., Lottermoser K., Schweikert H.U., Kusterer K., Menken U., Mercier J., Oelkers W., Sauer J., Simon D., Starrach G., Ziegler R.
J. Clin. Endocrinol. Metab. 81:1780-1783(1996) [PubMed: 8626834] [Abstract]
Cited for: VARIANTS MEN2A.
[40]"A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A."
Hoeppner W., Ritter M.M.
Hum. Mol. Genet. 6:587-590(1997) [PubMed: 9097963] [Abstract]
Cited for: VARIANT MEN2A HIS-GLU-LEU-CYS-634 INS.
[41]"Frequency of RET mutations in long- and short-segment Hirschsprung disease."
Seri M., Yin L., Barone V., Bolino A., Celli I., Bocciardi R., Pasini B., Ceccherini I., Lerone M., Kristoffersson U., Larsson L.T., Casasa J.M., Cass D.T., Abramowicz M.J., Vanderwinden J.-M., Kravcenkiene I., Baric I., Silengo M., Martucciello G., Romeo G.
Hum. Mutat. 9:243-249(1997) [PubMed: 9090527] [Abstract]
Cited for: VARIANTS HSCR PRO-180; GLN-313; ARG-620 AND PHE-791.
[42]"Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting."
Peretz H., Luboshitsky R., Baron E., Biton A., Gershoni R., Usher S., Grynberg E., Yakobson E., Graff E., Lapidot M.
Hum. Mutat. 10:155-159(1997) [PubMed: 9259198] [Abstract]
Cited for: VARIANT MTC/HSCR ARG-618.
[43]"Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation."
Gimm O., Marsh D.J., Andrew S.D., Frilling A., Dahia P.L.M., Mulligan L.M., Zajac J.D., Robinson B.G., Eng C.
J. Clin. Endocrinol. Metab. 82:3902-3904(1997) [PubMed: 9360560] [Abstract]
Cited for: VARIANT MEN2B PHE-883.
Tissue: Peripheral blood leukocyte.
[44]"A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma."
Hofstra R.M.W., Fattoruso O., Quadro L., Wu Y., Libroia A., Verga U., Colantuoni V., Buys C.H.C.M.
J. Clin. Endocrinol. Metab. 82:4176-4178(1997) [PubMed: 9398735] [Abstract]
Cited for: VARIANT MTC ALA-891.
[45]"Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease."
Kusafuka T., Wang Y., Puri P.
J. Pediatr. Surg. 32:501-504(1997) [PubMed: 9094028] [Abstract]
Cited for: VARIANTS HSCR SER-174 AND TYR-197.
[46]"Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC."
Kitamura Y., Goodfellow P.J., Shimizu K., Nagahama M., Ito K., Kitagawa W., Akasu H., Takami H., Tanaka S., Wells S.A. Jr.
Oncogene 14:3103-3106(1997) [PubMed: 9223675] [Abstract]
Cited for: VARIANTS MTC; MEN2A AND MEN2B, VARIANT SER-691.
[47]"Germline mutation of RET codon 883 in two cases of de novo MEN 2B."
Smith D.P., Houghton C., Ponder B.A.J.
Oncogene 15:1213-1217(1997) [PubMed: 9294615] [Abstract]
Cited for: VARIANT MEN2B PHE-883.
[48]"Mutations of the RET-GDNF signaling pathway in Ondine's curse."
Amiel J., Salomon R., Attie T., Pelet A., Trang H., Mokhtari M., Gaultier C., Munnich A., Lyonnet S.
Am. J. Hum. Genet. 62:715-717(1998) [PubMed: 9497256] [Abstract]
Cited for: VARIANT CCHS LEU-1039, VARIANT SER-691.
[49]"Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma."
Oriola J., Paramo C., Halperin I., Garcia-Mayor R.V., Rivera-Fillat F.
Am. J. Med. Genet. 78:271-273(1998) [PubMed: 9677065] [Abstract]
Cited for: VARIANT MTC GLY-611.
[50]"Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B)."
Svensson P.J., Anvret M., Molander M.L., Nordenskjold A.
Hum. Genet. 103:145-148(1998) [PubMed: 9760196] [Abstract]
Cited for: VARIANT CYS-982.
[51]"Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation."
Decker R.A., Peacock M.L., Watson P.
Hum. Mol. Genet. 7:129-134(1998) [PubMed: 9384613] [Abstract]
Cited for: VARIANTS MEN2A/HSCR TYR-609; SER-618; ARG-620 AND TRP-620.
[52]"Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia type 2A."
Hoeppner W., Dralle H., Brabant G.
Hum. Mutat. Suppl. 1:S128-S130(1998) [PubMed: 9452064] [Abstract]
Cited for: VARIANT MEN2A CYS-ARG-THR-636 INS.
[53]"A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma."
Fattoruso O., Quadro L., Libroia A., Verga U., Lupoli G., Cascone E., Colantuoni V.
Hum. Mutat. Suppl. 1:S167-S171(1998) [PubMed: 9452077] [Abstract]
Cited for: VARIANT MTC MET-804.
[54]"A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A."
Berndt I., Reuter M., Saller B., Frank-Raue K., Groth P., Grussendorf M., Raue F., Ritter M.M., Hoeppner W.
J. Clin. Endocrinol. Metab. 83:770-774(1998) [PubMed: 9506724] [Abstract]
Cited for: VARIANTS MTC/MEN2A PHE-790 AND PHE-791.
[55]"Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma."
Shirahama S., Ogura K., Takami H., Ito K., Tohsen T., Miyauchi A., Nakamura Y.
J. Hum. Genet. 43:101-106(1998) [PubMed: 9621513] [Abstract]
Cited for: VARIANTS MTC AND MEN2A.
[56]"Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease."
Auricchio A., Griseri P., Carpentieri M.L., Betsos N., Staiano A., Tozzi A., Priolo M., Thompson H., Bocciardi R., Romeo G., Ballabio A., Ceccherini I.
Am. J. Hum. Genet. 64:1216-1221(1999) [PubMed: 10090908] [Abstract]
Cited for: VARIANTS HSCR LYS-626 AND GLN-813.
[57]"Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site."
Geneste O., Bidaud C., De Vita G., Hofstra R.M.W., Tartare-Deckert S., Buys C.H.C.M., Lenoir G.M., Santoro M., Billaud M.
Hum. Mol. Genet. 8:1989-1999(1999) [PubMed: 10484767] [Abstract]
Cited for: VARIANTS HSCR ASN-1059 DEL AND PRO-1061.
[58]"A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma."
Pigny P., Bauters C., Wemeau J.-L., Houcke M.L., Crepin M., Caron P., Giraud S., Calender A., Buisine M.-P., Kerckaert J.-P., Porchet N.
J. Clin. Endocrinol. Metab. 84:1700-1704(1999) [PubMed: 10323403] [Abstract]
Cited for: VARIANT MTC GLU-GLU-CYS-531 INS.
[59]"A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene."
Tessitore A., Sinisi A.A., Pasquali D., Cardone M., Vitale D., Bellastella A., Colantuoni V.
J. Clin. Endocrinol. Metab. 84:3522-3527(1999) [PubMed: 10522989] [Abstract]
Cited for: VARIANT MEN2A GLY-640.
[60]"A RET double mutation in the germline of a kindred with FMTC."
Bartsch D.K., Hasse C., Schug C., Barth P., Rothmund M., Hoeppner W.
Exp. Clin. Endocrinol. Diabetes 108:128-132(2000) [PubMed: 10826520] [Abstract]
Cited for: VARIANTS MTC MET-804 AND LEU-844.
[61]"A new germline mutation, R600Q, within the coding region of RET proto-oncogene: a rare polymorphism or a MEN 2 causing mutation?"
Saez M.E., Ruiz A., Cebrian A., Morales F., Robledo M., Antinolo G., Borrego S.
Hum. Mutat. 15:122-122(2000) [PubMed: 10612852] [Abstract]
Cited for: VARIANT GLN-600.
[62]"A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus."
Bolk S., Pelet A., Hofstra R.M.W., Angrist M., Salomon R., Croaker D., Buys C.H.C.M., Lyonnet S., Chakravarti A.
Proc. Natl. Acad. Sci. U.S.A. 97:268-273(2000) [PubMed: 10618407] [Abstract]
Cited for: VARIANTS HSCR LEU-32; CYS-77; TRP-360 AND LYS-394.
[63]"Three novel mutations in the RET proto-oncogene."
Kalinin V.N., Amosenko F.A., Shabanov M.A., Lubchenko L.N., Hosch S.B., Garkavtseva R.F., Izbicki J.R.
J. Mol. Med. 79:609-612(2001) [PubMed: 11692159] [Abstract]
Cited for: VARIANTS MTC GLY-639; GLY-641 AND PHE-922.
[64]"Germ-line mutations in nonsyndromic pheochromocytoma."
The Freiburg-Warsaw-Columbus pheochromocytoma study group
Neumann H.P.H., Bausch B., McWhinney S.R., Bender B.U., Gimm O., Franke G., Schipper J., Klisch J., Altehoefer C., Zerres K., Januszewicz A., Smith W.M., Munk R., Manz T., Glaesker S., Apel T.W., Treier M., Reineke M. expand/collapse author list , Walz M.K., Hoang-Vu C., Brauckhoff M., Klein-Franke A., Klose P., Schmidt H., Maier-Woelfle M., Peczkowska M., Szmigielski C., Eng C.
N. Engl. J. Med. 346:1459-1466(2002) [PubMed: 12000816] [Abstract]
Cited for: VARIANTS PHEOCHROMOCYTOMA ARG-634; GLY-634; TYR-634; SER-634; PHE-634; TRP-634 AND PHE-791.
[65]"Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case."
Kanai M., Numakura C., Sasaki A., Shirahata E., Akaba K., Hashimoto M., Hasegawa H., Shirasawa S., Hayasaka K.
Tohoku J. Exp. Med. 196:241-246(2002) [PubMed: 12086152] [Abstract]
Cited for: VARIANT CCHS HIS-114.
[66]"Molecular analysis of congenital central hypoventilation syndrome."
Sasaki A., Kanai M., Kijima K., Akaba K., Hashimoto M., Hasegawa H., Otaki S., Koizumi T., Kusuda S., Ogawa Y., Tuchiya K., Yamamoto W., Nakamura T., Hayasaka K.
Hum. Genet. 114:22-26(2003) [PubMed: 14566559] [Abstract]
Cited for: VARIANTS ASN-489; SER-691 AND CYS-982, VARIANTS CCHS HIS-67; HIS-114 AND GLU-432.
[67]"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. expand/collapse author list , 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: VARIANTS [LARGE SCALE ANALYSIS] GLY-145; TRP-360 AND GLU-593.
[68]"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. expand/collapse author list , 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] GLN-163; ASN-278; MET-292; ASN-489; SER-691; THR-749; SER-826; LEU-844; CYS-982 AND TYR-1112.
[69]"Renal aplasia in humans is associated with RET mutations."
Skinner M.A., Safford S.D., Reeves J.G., Jackson M.E., Freemerman A.J.
Am. J. Hum. Genet. 82:344-351(2008) [PubMed: 18252215] [Abstract]
Cited for: VARIANTS RENAL ADYSPLASIA THR-198; ALA-376; HIS-394; ILE-778; SER-894; THR-918; LEU-1049 AND SER-1067, CHARACTERIZATION OF VARIANTS RENAL ADYSPLASIA THR-198; ALA-376; HIS-394; ILE-778; SER-894; LEU-1049 AND SER-1067.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X15262 mRNA. Translation: CAA33333.1.
X12949 mRNA. Translation: CAA31408.1.
M16029 mRNA. Translation: AAA36786.1. Sequence problems.
X15786 mRNA. Translation: CAA33787.1. Different initiation.
M31213 mRNA. Translation: AAA36524.1. Different initiation.
AJ297349 mRNA. Translation: CAC14882.1. Different initiation.
IPIIPI00013983.
PIRTVHURE. A27203.
A34630.
B34735.
S05582.
RefSeqNP_065681.1.
NP_066124.1.
UniGeneHs.350321

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1XPDmodel-A709-1013[»]
2IVSX-ray2.00A/B705-1013[»]
2IVTX-ray2.60A705-1013[»]
2IVUX-ray2.50A705-1013[»]
2IVVX-ray2.25A705-1013[»]
ModBaseSearch...

Protein-protein interaction databases

STRINGP07949.

PTM databases

PhosphoSiteP07949.

Proteomic databases

PRIDEP07949.

Genome annotation databases

EnsemblENST00000355710; ENSP00000347942; ENSG00000165731; Homo sapiens. [Genome view]
GeneID5979.
KEGGhsa:5979.
UCSCuc001jal.1. human.

Organism-specific databases

CTD5979.
GeneCardsGC10P042892.
HGNCHGNC:9967. RET.
HPACAB002581.
CAB018342.
HPA008356.
MIM114500. phenotype.
142623. phenotype.
155240. phenotype.
162300. phenotype.
164761. gene.
171300. phenotype.
171400. phenotype.
188550. phenotype.
191830. phenotype.
209880. phenotype.
Orphanet388. Hirschsprung disease.
653. Multiple endocrine neoplasia, type 2.
661. Ondine syndrome.
93108. Renal dysplasia.
93173. Renal dysplasia, bilateral.
93172. Renal dysplasia, unilateral.
1332. Thyroid carcinoma, medullary.
146. Thyroid carcinoma, papillary or follicular.
PharmGKBPA34335.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG12621.
HOGENOMHBG444015.
HOVERGENP07949.
InParanoidP07949.
OMAGCARVYF.
OrthoDBEOG9GTP0B.
PhylomeDBP07949.

Enzyme and pathway databases

BRENDA2.7.10.1. 247.
Pathway_Interaction_DBret_pathway. Signaling events regulated by Ret tyrosine kinase.

Gene expression databases

ArrayExpressP07949.
BgeeP07949.
CleanExHS_RET.
GenevestigatorP07949.
GermOnlineENSG00000165731. Homo sapiens.

Family and domain databases

InterProIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_cat_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR015777. Tyr_kinase_Ret_rcpt-like.
IPR020635. Tyr_Pkinase_cat_dom.
IPR020685. Tyr_prot_kinase.
IPR008266. Tyr_prot_kinase_AS.
IPR016249. Tyr_prot_kinase_Ret_rcpt.
[Graphical view]
Gene3DG3DSA:2.60.40.60. Cadherin. 1 hit.
PANTHERPTHR23256:SF245. RetRTK. 1 hit.
PTHR23256. Tyr_prot_kinase. 1 hit.
PfamPF00028. Cadherin. 1 hit.
[Graphical view]
PIRSFPIRSF000631. TyrPK_receptor_Ret. 1 hit.
SMARTSM00112. CA. 1 hit.
SM00219. TyrKc. 1 hit.
[Graphical view]
PROSITEPS50268. CADHERIN_2. 1 hit.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00109. PROTEIN_KINASE_TYR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

DrugBankDB01268. Sunitinib.
NextBio23271.
SOURCESearch...

Entry information

Entry nameRET_HUMAN
AccessionPrimary (citable) accession number: P07949
Secondary accession number(s): Q15250, Q9H4A2
Entry history
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: June 1, 1994
Last modified: February 9, 2010
This is version 147 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
DisclaimerAny 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.

Relevant documents

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human and mouse protein kinases

Human and mouse protein kinases: classification and index

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents