PCDHGA2 - protocadherin gamma subfamily A, 2 Gene

Also Known as PCDH-GAMMA-A2

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 56113

About PCDHGA2

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:141,338,760-141,512,975 (from NCBI)

This gene has 2 transcripts (splice variants), 154 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]

PCDHGA2 Products (2)

mRNA Protein Name
NM_018915.4 NP_061738.1 protocadherin gamma-A2 isoform 1 precursor
NM_032009.3 NP_114398.1 protocadherin gamma-A2 isoform 2 precursor

PCDHGA2 Protein Structure

Cadherin_2

Cadherin_2: Cadherin-like (29 - 112)

Cadherin

Cadherin: Cadherin domain (141 - 233)

Cadherin

Cadherin: Cadherin domain (247 - 338)

Cadherin

Cadherin: Cadherin domain (355 - 442)

Cadherin

Cadherin: Cadherin domain (457 - 552)

Cadherin

Cadherin: Cadherin domain (582 - 664)

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  • 932 a.a.
Protein Preferred Names Protein Names

protocadherin gamma-A2

関連疾患

Diseases Alias
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies
  • NEDGS

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

生物種 Symbol 由来 ID
Rattus norvegicus PCDHGA2 RGD RGD:1587259
Mus musculus PCDHGA2 MGD MGI:1935214