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PCDHGC3

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PCDHGC3
Identifiers
AliasesPCDHGC3, PC43, PCDH-GAMMA-C3, PCDH2, protocadherin gamma subfamily C, 3
External IDsOMIM: 603627; MGI: 1935201; HomoloGene: 31099; GeneCards: PCDHGC3; OMA:PCDHGC3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032403
NM_002588
NM_032402

NM_033581

RefSeq (protein)

NP_002579
NP_115778
NP_115779

n/a

Location (UCSC)Chr 5: 141.48 – 141.51 MbChr 18: 37.94 – 37.97 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protocadherin gamma-C3 is a protein that in humans is encoded by the PCDHGC3 gene.[5][6][7]

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.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000240184Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000102918Ensembl, 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. ^ Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (Dec 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous". Science. 278 (5341): 1315–8. Bibcode:1997Sci...278.1315L. doi:10.1126/science.278.5341.1315. PMID 9360932. S2CID 43492826.
  6. ^ Sano K, Tanihara H, Heimark RL, Obata S, Davidson M, St John T, Taketani S, Suzuki S (Jul 1993). "Protocadherins: a large family of cadherin-related molecules in central nervous system". EMBO J. 12 (6): 2249–56. doi:10.1002/j.1460-2075.1993.tb05878.x. PMC 413453. PMID 8508762.
  7. ^ a b "Entrez Gene: PCDHGC3 protocadherin gamma subfamily C, 3".

Further reading

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