PTCH2

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PTCH2
Identifiers
AliasesPTCH2, PTC2, patched 2
External IDsOMIM: 603673 MGI: 1095405 HomoloGene: 37842 GeneCards: PTCH2
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for PTCH2
Genomic location for PTCH2
Band1p34.1Start44,819,844 bp[1]
End44,843,253 bp[1]
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)Chr 1: 44.82 – 44.84 MbChr 4: 117.1 – 117.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Patched 2 is a protein that in humans is encoded by the PTCH2 gene.[5]

Function[edit]

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.[5]

Clinical significance[edit]

Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000117425 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028681 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: Patched 2".

Further reading[edit]

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