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Q9Y6C5

- PTC2_HUMAN

UniProt

Q9Y6C5 - PTC2_HUMAN

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Protein
Protein patched homolog 2
Gene
PTCH2, UNQ560/PRO1121/PRO57079
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).

GO - Molecular functioni

  1. hedgehog family protein binding Source: BHF-UCL
  2. hedgehog receptor activity Source: BHF-UCL
  3. smoothened binding Source: BHF-UCL

GO - Biological processi

  1. epidermis development Source: Ensembl
  2. hair cycle Source: Ensembl
  3. negative regulation of smoothened signaling pathway Source: BHF-UCL
  4. signal transduction Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

ReactomeiREACT_18372. Class B/2 (Secretin family receptors).
SignaLinkiQ9Y6C5.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein patched homolog 2
Short name:
PTC2
Gene namesi
Name:PTCH2
ORF Names:UNQ560/PRO1121/PRO57079
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:9586. PTCH2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5757Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei58 – 7821Helical; Reviewed prediction
Add
BLAST
Topological domaini79 – 392314Extracellular Reviewed prediction
Add
BLAST
Transmembranei393 – 41321Helical; Reviewed prediction
Add
BLAST
Topological domaini414 – 42815Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei429 – 44921Helical; Reviewed prediction
Add
BLAST
Topological domaini450 – 4578Extracellular Reviewed prediction
Transmembranei458 – 47821Helical; Reviewed prediction
Add
BLAST
Topological domaini479 – 50123Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei502 – 52221Helical; Reviewed prediction
Add
BLAST
Topological domaini523 – 5319Extracellular Reviewed prediction
Transmembranei532 – 55221Helical; Reviewed prediction
Add
BLAST
Topological domaini553 – 686134Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei687 – 70721Helical; Reviewed prediction
Add
BLAST
Topological domaini708 – 963256Extracellular Reviewed prediction
Add
BLAST
Transmembranei964 – 98421Helical; Reviewed prediction
Add
BLAST
Topological domaini985 – 9917Cytoplasmic Reviewed prediction
Transmembranei992 – 101221Helical; Reviewed prediction
Add
BLAST
Topological domaini1013 – 10131Extracellular Reviewed prediction
Transmembranei1014 – 103421Helical; Reviewed prediction
Add
BLAST
Topological domaini1035 – 106430Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1065 – 108521Helical; Reviewed prediction
Add
BLAST
Topological domaini1086 – 10938Extracellular Reviewed prediction
Transmembranei1094 – 111421Helical; Reviewed prediction
Add
BLAST
Topological domaini1115 – 120389Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Basal cell carcinoma (BCC) [MIM:605462]: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Organism-specific databases

MIMi155255. phenotype.
605462. phenotype.
Orphaneti141276. Commissural facial cleft.
PharmGKBiPA33938.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12031203Protein patched homolog 2
PRO_0000205970Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi370 – 3701N-linked (GlcNAc...) Reviewed prediction
Glycosylationi812 – 8121N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9Y6C5.
PRIDEiQ9Y6C5.

PTM databases

PhosphoSiteiQ9Y6C5.

Expressioni

Gene expression databases

BgeeiQ9Y6C5.
CleanExiHS_PTCH2.
GenevestigatoriQ9Y6C5.

Organism-specific databases

HPAiHPA046839.

Interactioni

Protein-protein interaction databases

BioGridi114195. 3 interactions.
IntActiQ9Y6C5. 1 interaction.
STRINGi9606.ENSP00000361266.

Structurei

3D structure databases

ProteinModelPortaliQ9Y6C5.
SMRiQ9Y6C5. Positions 968-1115.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini394 – 552159SSD
Add
BLAST

Sequence similaritiesi

Belongs to the patched family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG313603.
HOGENOMiHOG000231331.
HOVERGENiHBG003801.
InParanoidiQ9Y6C5.
KOiK11101.
OMAiHCEASSQ.
OrthoDBiEOG7HMS06.
PhylomeDBiQ9Y6C5.
TreeFamiTF106489.

Family and domain databases

InterProiIPR003392. Patched.
IPR000731. SSD.
IPR004766. TM_rcpt_patched.
[Graphical view]
PfamiPF02460. Patched. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00918. 2A060602. 1 hit.
PROSITEiPS50156. SSD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y6C5-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MTRSPPLREL PPSYTPPART AAPQILAGSL KAPLWLRAYF QGLLFSLGCG     50
IQRHCGKVLF LGLLAFGALA LGLRMAIIET NLEQLWVEVG SRVSQELHYT 100
KEKLGEEAAY TSQMLIQTAR QEGENILTPE ALGLHLQAAL TASKVQVSLY 150
GKSWDLNKIC YKSGVPLIEN GMIERMIEKL FPCVILTPLD CFWEGAKLQG 200
GSAYLPGRPD IQWTNLDPEQ LLEELGPFAS LEGFRELLDK AQVGQAYVGR 250
PCLHPDDLHC PPSAPNHHSR QAPNVAHELS GGCHGFSHKF MHWQEELLLG 300
GMARDPQGEL LRAEALQSTF LLMSPRQLYE HFRGDYQTHD IGWSEEQAST 350
VLQAWQRRFV QLAQEALPEN ASQQIHAFSS TTLDDILHAF SEVSAARVVG 400
GYLLMLAYAC VTMLRWDCAQ SQGSVGLAGV LLVALAVASG LGLCALLGIT 450
FNAATTQVLP FLALGIGVDD VFLLAHAFTE ALPGTPLQER MGECLQRTGT 500
SVVLTSINNM AAFLMAALVP IPALRAFSLQ AAIVVGCTFV AVMLVFPAIL 550
SLDLRRRHCQ RLDVLCCFSS PCSAQVIQIL PQELGDGTVP VGIAHLTATV 600
QAFTHCEASS QHVVTILPPQ AHLVPPPSDP LGSELFSPGG STRDLLGQEE 650
ETRQKAACKS LPCARWNLAH FARYQFAPLL LQSHAKAIVL VLFGALLGLS 700
LYGATLVQDG LALTDVVPRG TKEHAFLSAQ LRYFSLYEVA LVTQGGFDYA 750
HSQRALFDLH QRFSSLKAVL PPPATQAPRT WLHYYRNWLQ GIQAAFDQDW 800
ASGRITRHSY RNGSEDGALA YKLLIQTGDA QEPLDFSQLT TRKLVDREGL 850
IPPELFYMGL TVWVSSDPLG LAASQANFYP PPPEWLHDKY DTTGENLRIP 900
PAQPLEFAQF PFLLRGLQKT ADFVEAIEGA RAACAEAGQA GVHAYPSGSP 950
FLFWEQYLGL RRCFLLAVCI LLVCTFLVCA LLLLNPWTAG LIVLVLAMMT 1000
VELFGIMGFL GIKLSAIPVV ILVASVGIGV EFTVHVALGF LTTQGSRNLR 1050
AAHALEHTFA PVTDGAISTL LGLLMLAGSH FDFIVRYFFA ALTVLTLLGL 1100
LHGLVLLPVL LSILGPPPEV IQMYKESPEI LSPPAPQGGG LRWGASSSLP 1150
QSFARVTTSM TVAIHPPPLP GAYIHPAPDE PPWSPAATSS GNLSSRGPGP 1200
ATG 1203
Length:1,203
Mass (Da):130,544
Last modified:January 24, 2001 - v2
Checksum:i4FAB06999782C031
GO
Isoform 2 (identifier: Q9Y6C5-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1143-1203: WGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGPATG → PEEI

Show »
Length:1,146
Mass (Da):124,909
Checksum:iFC9A05E2E37C455F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti346 – 3461E → Q.1 Publication
Corresponds to variant rs11573578 [ dbSNP | Ensembl ].
VAR_018935
Natural varianti493 – 4931E → K.1 Publication
Corresponds to variant rs11573581 [ dbSNP | Ensembl ].
VAR_018936
Natural varianti622 – 6221H → Y.1 Publication
Corresponds to variant rs11573586 [ dbSNP | Ensembl ].
VAR_018937
Natural varianti988 – 9881T → M.1 Publication
Corresponds to variant rs11573590 [ dbSNP | Ensembl ].
VAR_018938
Natural varianti995 – 9951V → M.
Corresponds to variant rs11573591 [ dbSNP | Ensembl ].
VAR_050466
Natural varianti1019 – 10191V → M.1 Publication
Corresponds to variant rs11573591 [ dbSNP | Ensembl ].
VAR_018939
Natural varianti1121 – 11211I → M.1 Publication
Corresponds to variant rs11573598 [ dbSNP | Ensembl ].
VAR_018940

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1143 – 120361WGASS…GPATG → PEEI in isoform 2.
VSP_004542Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2 – 21T → N in AAD25953. 1 Publication
Sequence conflicti120 – 1201R → L in AAD25953. 1 Publication
Sequence conflicti175 – 1751R → W in AAC79847. 1 Publication
Sequence conflicti175 – 1751R → W in AAQ88919. 1 Publication
Sequence conflicti175 – 1751R → W in AAQ89375. 1 Publication
Sequence conflicti753 – 7531Q → R in AAD25953. 1 Publication
Sequence conflicti787 – 7871N → S in AAD25953. 1 Publication
Sequence conflicti833 – 8331P → L in AAD17260. 1 Publication
Sequence conflicti837 – 8371S → G in AAD25953. 1 Publication
Sequence conflicti846 – 8461D → E in AAD25953. 1 Publication
Sequence conflicti897 – 8971L → F in AAD17260. 1 Publication
Sequence conflicti1203 – 12031G → GDYKDDDDK in AAQ88919. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF091501 mRNA. Translation: AAC79847.1.
AF087651 mRNA. Translation: AAD25953.1.
AF119569 mRNA. Translation: AAD17260.1.
AY358555 mRNA. Translation: AAQ88919.1.
AY359016 mRNA. Translation: AAQ89375.1.
AY438664 Genomic DNA. Translation: AAR05447.1.
AL136380, AL592166 Genomic DNA. Translation: CAI23127.1.
AL592166, AL136380 Genomic DNA. Translation: CAI13000.1.
CCDSiCCDS516.1. [Q9Y6C5-1]
CCDS53312.1. [Q9Y6C5-2]
RefSeqiNP_001159764.1. NM_001166292.1. [Q9Y6C5-2]
NP_003729.3. NM_003738.4. [Q9Y6C5-1]
UniGeneiHs.591497.

Genome annotation databases

EnsembliENST00000372192; ENSP00000361266; ENSG00000117425. [Q9Y6C5-1]
ENST00000447098; ENSP00000389703; ENSG00000117425. [Q9Y6C5-2]
GeneIDi8643.
KEGGihsa:8643.
UCSCiuc010olf.2. human. [Q9Y6C5-1]
uc021omv.1. human. [Q9Y6C5-2]

Polymorphism databases

DMDMi12643356.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF091501 mRNA. Translation: AAC79847.1 .
AF087651 mRNA. Translation: AAD25953.1 .
AF119569 mRNA. Translation: AAD17260.1 .
AY358555 mRNA. Translation: AAQ88919.1 .
AY359016 mRNA. Translation: AAQ89375.1 .
AY438664 Genomic DNA. Translation: AAR05447.1 .
AL136380 , AL592166 Genomic DNA. Translation: CAI23127.1 .
AL592166 , AL136380 Genomic DNA. Translation: CAI13000.1 .
CCDSi CCDS516.1. [Q9Y6C5-1 ]
CCDS53312.1. [Q9Y6C5-2 ]
RefSeqi NP_001159764.1. NM_001166292.1. [Q9Y6C5-2 ]
NP_003729.3. NM_003738.4. [Q9Y6C5-1 ]
UniGenei Hs.591497.

3D structure databases

ProteinModelPortali Q9Y6C5.
SMRi Q9Y6C5. Positions 968-1115.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114195. 3 interactions.
IntActi Q9Y6C5. 1 interaction.
STRINGi 9606.ENSP00000361266.

PTM databases

PhosphoSitei Q9Y6C5.

Polymorphism databases

DMDMi 12643356.

Proteomic databases

PaxDbi Q9Y6C5.
PRIDEi Q9Y6C5.

Protocols and materials databases

DNASUi 8643.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372192 ; ENSP00000361266 ; ENSG00000117425 . [Q9Y6C5-1 ]
ENST00000447098 ; ENSP00000389703 ; ENSG00000117425 . [Q9Y6C5-2 ]
GeneIDi 8643.
KEGGi hsa:8643.
UCSCi uc010olf.2. human. [Q9Y6C5-1 ]
uc021omv.1. human. [Q9Y6C5-2 ]

Organism-specific databases

CTDi 8643.
GeneCardsi GC01M045286.
HGNCi HGNC:9586. PTCH2.
HPAi HPA046839.
MIMi 155255. phenotype.
603673. gene.
605462. phenotype.
neXtProti NX_Q9Y6C5.
Orphaneti 141276. Commissural facial cleft.
PharmGKBi PA33938.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG313603.
HOGENOMi HOG000231331.
HOVERGENi HBG003801.
InParanoidi Q9Y6C5.
KOi K11101.
OMAi HCEASSQ.
OrthoDBi EOG7HMS06.
PhylomeDBi Q9Y6C5.
TreeFami TF106489.

Enzyme and pathway databases

Reactomei REACT_18372. Class B/2 (Secretin family receptors).
SignaLinki Q9Y6C5.

Miscellaneous databases

GenomeRNAii 8643.
NextBioi 32403.
PROi Q9Y6C5.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y6C5.
CleanExi HS_PTCH2.
Genevestigatori Q9Y6C5.

Family and domain databases

InterProi IPR003392. Patched.
IPR000731. SSD.
IPR004766. TM_rcpt_patched.
[Graphical view ]
Pfami PF02460. Patched. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR00918. 2A060602. 1 hit.
PROSITEi PS50156. SSD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of two patched receptors for the vertebrate hedgehog protein family."
    Carpenter D., Stone D.M., Brush J., Ryan A., Armanini M., Frantz G., Rosenthal A., de Sauvage F.J.
    Proc. Natl. Acad. Sci. U.S.A. 95:13630-13634(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32."
    Smyth I., Narang M.A., Evans T., Heimann C., Nakamura Y., Chenevix-Trench G., Pietsch T., Wicking C., Wainwright B.J.
    Hum. Mol. Genet. 8:291-297(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN MDB AND BCC.
  3. "PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas."
    Zaphiropoulos P.G., Unden A.B., Rahnama F., Hollingsworth R.E., Toftgard R.
    Cancer Res. 59:787-792(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. NIEHS SNPs program
    Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLN-346; LYS-493; TYR-622; MET-988; MET-1019 AND MET-1121.
  6. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiPTC2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6C5
Secondary accession number(s): O95341
, O95856, Q53Z57, Q5QP87, Q6UX14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: January 24, 2001
Last modified: September 3, 2014
This is version 121 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi