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PCDHA12

From Wikipedia, the free encyclopedia
PCDHA12
Identifiers
AliasesPCDHA12, PCDH-ALPHA12, protocadherin alpha 12
External IDsOMIM: 606318; MGI: 1298408; HomoloGene: 135720; GeneCards: PCDHA12; OMA:PCDHA12 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031864
NM_018903

NM_009961

RefSeq (protein)

NP_061726
NP_114070

NP_034091

Location (UCSC)Chr 5: 140.88 – 141.01 MbChr 18: 37.14 – 37.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin alpha-12 is a protein that in humans is encoded by the PCDHA12 gene.[5][6]

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome 5 that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000251664Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007440Ensembl, 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. ^ Wu Q, Maniatis T (Jul 1999). "A striking organization of a large family of human neural cadherin-like cell adhesion genes". Cell. 97 (6): 779–90. doi:10.1016/S0092-8674(00)80789-8. PMID 10380929. S2CID 6014717.
  6. ^ a b "Entrez Gene: PCDHA12 protocadherin alpha 12".

Further reading

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