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  2. PCDHA3 - protocadherin alpha 3 Gene

PCDHA3 - protocadherin alpha 3 Gene

Homo sapiens

Also known as PCDH-ALPHA3

Gene ID: 56145 | Gene type: protein coding

About PCDHA3

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:140,801,057-141,012,347 (from NCBI)

This gene has 2 transcripts (splice variants), 28 orthologues and 61 paralogues.

Summary

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]

PCDHA3 Products(2)

mRNA Protein Name
NM_018906.3 NP_061729.1 protocadherin alpha-3 isoform 1 precursor
NM_031497.2 NP_113685.1 protocadherin alpha-3 isoform 2 precursor

PCDHA3 Protein Structure

Cadherin_2

Cadherin_2: Cadherin-like (29 - 111)

Cadherin

Cadherin: Cadherin domain (141 - 233)

Cadherin

Cadherin: Cadherin domain (247 - 340)

Cadherin

Cadherin: Cadherin domain (359 - 445)

Cadherin

Cadherin: Cadherin domain (460 - 556)

Cadherin

Cadherin: Cadherin domain (588 - 669)

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  • 950 a.a.
Protein Preferred Names Protein Names

protocadherin alpha-3

KIAA0345-like 11

Related Diseases

Diseases Alias
Restless Legs Syndrome

Wed

Willis-Ekbom Disease

Restless Leg Syndrome

Ekbom Syndrome

Wittmaack-Ekbom Syndrome

Willis Ekbom Disease

Ekbom'S Syndrome

Rls

Restless Legs

Restless Legs Syndrome, Susceptibility To

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 PCDHA3 RGD RGD:620336
Mus musculus PCDHA3 MGD MGI:2447313