1. Gene
  2. PCDHGC3 - protocadherin gamma subfamily C, 3 Gene

PCDHGC3 - protocadherin gamma subfamily C, 3 Gene

Homo sapiens

Also known as PC43; PCDH2; PCDH-GAMMA-C3

Gene ID: 5098 | Gene type: protein coding

About PCDHGC3

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:141,475,966-141,512,975 (from NCBI)

This gene has 8 transcripts (splice variants), 38 orthologues and 61 paralogues.

Summary

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. [provided by RefSeq, Jul 2008]

PCDHGC3 Products(3)

mRNA Protein Name
NM_002588.4 NP_002579.2 protocadherin gamma-C3 isoform 1 precursor
NM_032402.2 NP_115778.1 protocadherin gamma-C3 isoform 2 precursor
NM_032403.3 NP_115779.1 protocadherin gamma-C3 isoform 3

PCDHGC3 Protein Structure

Cadherin_2

Cadherin_2: Cadherin-like (33 - 114)

Cadherin

Cadherin: Cadherin domain (143 - 235)

Cadherin

Cadherin: Cadherin domain (249 - 342)

Cadherin

Cadherin: Cadherin domain (361 - 447)

Cadherin

Cadherin: Cadherin domain (462 - 558)

Cadherin

Cadherin: Cadherin domain (586 - 667)

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  • 934 a.a.
Protein Preferred Names Protein Names

protocadherin gamma-C3

cadherin-like 2

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies

NEDGS

Corneal Dystrophy, Endothelial, X-Linked

X-Linked Endothelial Corneal Dystrophy

XECD

Endothelial Corneal Dystrophy, X-Linked

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PCDHGC3 RGD RGD:620746
Mus musculus PCDHGC3 MGD MGI:1935201