PTCH2

Patched 2 is a protein that in humans is encoded by the PTCH2 gene.^[4]

PTCH2
Identifiers
Aliases	PTCH2, PTC2, patched 2
External IDs	OMIM: 603673; MGI: 1095405; HomoloGene: 37842; GeneCards: PTCH2; OMA:PTCH2 - orthologs
Gene location (Mouse) Chr. Chromosome 4 (mouse)[1] Band 4 D1|4 53.41 cM Start 116,953,272 bp[1] End 116,973,298 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibial nerve sural nerve anterior pituitary right uterine tube nucleus accumbens right adrenal gland Brodmann area 9 gastric mucosa right coronary artery left uterine tube Top expressed in ciliary body hair follicle parotid gland molar internal carotid artery external carotid artery ankle subiculum intercostal muscle carotid body More reference expression data BioGPS n/a
Gene ontology Molecular function hedgehog receptor activity hedgehog family protein binding smoothened binding Cellular component membrane integral component of membrane plasma membrane Biological process skin development positive regulation of epidermal cell differentiation hair cycle epidermal cell fate specification cell fate determination negative regulation of smoothened signaling pathway epidermis development signal transduction smoothened signaling pathway regulation of cell growth Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8643 19207 Ensembl ENSG00000117425 ENSMUSG00000028681 UniProt Q9Y6C5 O35595 RefSeq (mRNA) NM_003738 NM_001166292 NM_008958 NM_001312903 RefSeq (protein) NP_001159764 NP_003729 NP_001299832 NP_032984 Location (UCSC) n/a Chr 4: 116.95 – 116.97 Mb PubMed search [2] [3]
Wikidata
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Function

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.^[4]

Clinical significance

Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia.^[4]