PCDHGC3

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PCDHGC3
Identifiers
Aliases PCDHGC3, PC43, PCDH-GAMMA-C3, PCDH2, protocadherin gamma subfamily C, 3
External IDs MGI: 1935201 HomoloGene: 31099 GeneCards: PCDHGC3
Orthologs
Species Human Mouse
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 Mb Chr 18: 37.81 – 37.84 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Protocadherin gamma-C3 is a protein that in humans is encoded by the PCDHGC3 gene.[3][4][5]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. doi:10.1126/science.278.5341.1315. PMID 9360932. 
  4. ^ 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. PMC 413453Freely accessible. PMID 8508762. 
  5. ^ a b "Entrez Gene: PCDHGC3 protocadherin gamma subfamily C, 3". 

Further reading[edit]