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
patched 2
patched 2
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Hedgehog pathway
REACTOME
Signaling by GPCR pathway
Signal Transduction pathway
GPCR ligand binding pathway
Class B/2 (Secretin family receptors) pathway
KEGG
Hedgehog signaling pathway pathway
Pathways in cancer pathway
Basal cell carcinoma pathway
INOH
Hedgehog signaling pathway pathway
PID BIOCARTA
PID NCI
Signaling events mediated by the Hedgehog family
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 8643
UniGene Hs.591497
RefSeq NM_003738 NM_001166292
HUGO HGNC:9586
OMIM 603673
CCDS CCDS516 CCDS53312
HPRD 04722
IMGT
EMBL
GenPept
RNA Seq Atlas 8643