Version 5.4
Homo sapiens Protein: PTCH2
Summary
InnateDB Protein IDBP-382936.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PTCH2
Protein Name patched 2
Synonyms PTC2;
Species Homo sapiens
Ensembl Protein ENSP00000389703
InnateDB Gene IDBG-97812 (PTCH2)
Protein Structure
UniProt Annotation
Function May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).
Subcellular Localization Membrane; Multi-pass membrane protein.
Disease Associations 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.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. {ECO:0000269PubMed:9931336}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005119 smoothened binding
GO:0008158 hedgehog receptor activity
GO:0097108 hedgehog family protein binding
Biological Process
GO:0007165 signal transduction
GO:0045879 negative regulation of smoothened signaling pathway
Cellular Component
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR000731 Sterol-sensing domain
IPR003392 Patched
IPR004766 Transmembrane receptor, patched
PFAM PF02460
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y6C5
PhosphoSite PhosphoSite-Q9Y6C5
TrEMBL
UniProt Splice Variant
Entrez Gene 8643
UniGene Hs.591497
RefSeq NP_001159764
HUGO HGNC:9586
OMIM 603673
CCDS CCDS53312
HPRD 04722
IMGT
EMBL AF087651 AF091501 AF119569 AL136380 AL592166 AY358555 AY359016 AY438664
GenPept AAC79847 AAD17260 AAD25953 AAQ88919 AAQ89375 AAR05447 CAI13000 CAI23127

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca