Version 5.4
Homo sapiens Gene: PTCH2
Summary
InnateDB Gene IDBG-97812.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PTCH2
Gene Name patched 2
Synonyms PTC2
Species Homo sapiens
Ensembl Gene ENSG00000117425
Encoded Proteins
IDBP-97816
patched 2
IDBP-382922
patched 2
IDBP-382936
patched 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:44819844-44843063
Strand Reverse strand
Band p34.1
Transcripts
ENST00000372192 ENSP00000361266
ENST00000438067 ENSP00000413169
ENST00000447098 ENSP00000389703
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:0008544 epidermis development
GO:0042633 hair cycle
GO:0043588 skin development
GO:0045879 negative regulation of smoothened signaling pathway
Cellular Component
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000028681
View Gene Order
ENSBTAG00000024137
Not yet available
Pathways
NETPATH
NetPath_10
Hedgehog pathway
REACTOME
REACT_18372
Class B/2 (Secretin family receptors) pathway
REACT_14797
Signaling by GPCR pathway
REACT_111102
Signal Transduction pathway
REACT_21340
GPCR ligand binding pathway
KEGG
hsa04340
Hedgehog signaling pathway pathway
hsa05217
Basal cell carcinoma pathway
hsa05200
Pathways in cancer pathway
INOH
INOH website
Hedgehog signaling pathway pathway
PID NCI
hedgehog_2pathway
Signaling events mediated by the Hedgehog family
Cross-References
SwissProt Q9Y6C5
TrEMBL
UniProt Splice Variant
Entrez Gene 8643
UniGene Hs.591497
RefSeq NM_001166292 NM_003738
HUGO HGNC:9586
OMIM 603673
CCDS CCDS516 CCDS53312
HPRD
IMGT
EMBL AF087651 AF091501 AF119569 AL136380 AL592166 AY358555 AY359016 AY438664
GenPept AAC79847 AAD17260 AAD25953 AAQ88919 AAQ89375 AAR05447 CAI13000 CAI23127
RNA Seq Atlas 8643

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