PCDHAC2

PCDHAC2
Identifiers
AliasesPCDHAC2, PCDH-ALPHA-C2, protocadherin alpha subfamily C, 2
External IDsMGI: 1891443 HomoloGene: 49562 GeneCards: PCDHAC2
Gene location (Human)
Chr.Chromosome 5 (human)[1]
BandNo data availableStart140,966,235 bp[1]
End141,012,344 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

56134

353237

Ensembl

ENSG00000243232

ENSMUSG00000102697

UniProt

Q9Y5I4

Q91Y09

RefSeq (mRNA)

NM_031883
NM_018899

NM_001003672

RefSeq (protein)

NP_061722
NP_114089

NP_001003672

Location (UCSC)Chr 5: 140.97 – 141.01 MbChr 5: 37.14 – 37.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin alpha-C2 is a protein that in humans is encoded by the PCDHAC2 gene.[5][6]

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.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000243232 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000102697 - Ensembl, May 2017
  3. "Human PubMed Reference:".
  4. "Mouse PubMed Reference:".
  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. PMID 10380929. doi:10.1016/S0092-8674(00)80789-8.
  6. 1 2 "Entrez Gene: PCDHAC2 protocadherin alpha subfamily C, 2".

Further reading

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