Jump to content

PCDHA6

From Wikipedia, the free encyclopedia
(Redirected from PCDHA6 (gene))
PCDHA6
Identifiers
AliasesPCDHA6, CNR2, CNRN2, CNRS2, CRNR2, PCDH-ALPHA6, protocadherin alpha 6
External IDsOMIM: 606312; MGI: 1298367; HomoloGene: 75098; GeneCards: PCDHA6; OMA:PCDHA6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031849
NM_018909
NM_031848

NM_007767

RefSeq (protein)

NP_061732
NP_114036
NP_114037

n/a

Location (UCSC)Chr 5: 140.83 – 141.01 MbChr 18: 37.1 – 37.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin alpha-6 is a protein that in humans is encoded by the PCDHA6 gene.[5][6][7]

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five 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.[7]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000081842Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000103707Ensembl, 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. ^ Sugino H, Hamada S, Yasuda R, Tuji A, Matsuda Y, Fujita M, Yagi T (Apr 2000). "Genomic organization of the family of CNR cadherin genes in mice and humans". Genomics. 63 (1): 75–87. doi:10.1006/geno.1999.6066. PMID 10662547.
  7. ^ a b "Entrez Gene: PCDHA6 protocadherin alpha 6".

Further reading

[edit]