PCDHGC3 - protocadherin gamma subfamily C, 3 Gene
Also Known as PC43; PCDH2; PCDH-GAMMA-C3
Species: Homo sapiens
About PCDHGC3
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-like (33 - 114)
Cadherin: Cadherin domain (143 - 235)
Cadherin: Cadherin domain (249 - 342)
Cadherin: Cadherin domain (361 - 447)
Cadherin: Cadherin domain (462 - 558)
Cadherin: Cadherin domain (586 - 667)
- 0
- 200
- 400
- 600
- 800
- 934 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protocadherin gamma-C3 |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
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| Corneal Dystrophy, Endothelial, X-Linked |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | PCDHGC3 | RGD | RGD:620746 |
| Mus musculus | PCDHGC3 | MGD | MGI:1935201 |