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PCDHGA12

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PCDHGA12
Identifiers
AliasesPCDHGA12, CDH21, FIB3, PCDH-GAMMA-A12, protocadherin gamma subfamily A, 12
External IDsOMIM: 603059; MGI: 1935229; HomoloGene: 134588; GeneCards: PCDHGA12; OMA:PCDHGA12 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032094
NM_003735

NM_033595

RefSeq (protein)

NP_003726
NP_115265

NP_291073

Location (UCSC)Chr 5: 141.43 – 141.51 MbChr 18: 37.9 – 37.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin gamma-A12 is a protein that in humans is encoded by the PCDHGA12 gene.[5][6]

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000253159Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000102428Ensembl, 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: PCDHGA12 protocadherin gamma subfamily A, 12".

Further reading

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