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PTCH2

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PTCH2
Identifiers
AliasesPTCH2, PTC2, patched 2
External IDsOMIM: 603673; MGI: 1095405; HomoloGene: 37842; GeneCards: PTCH2; OMA:PTCH2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003738
NM_001166292

NM_008958
NM_001312903

RefSeq (protein)

NP_001159764
NP_003729

NP_001299832
NP_032984

Location (UCSC)n/aChr 4: 116.95 – 116.97 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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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

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

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028681Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ a b c "Entrez Gene: Patched 2".

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.