PCDHGC4 Chromosome 5
Protocadherin gamma subfamily C, 4
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What This Gene Does
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]
Gene Info
Gene Group
Clustered protocadherins
Locus Type
complex locus constituent
Location
5q31.3
Ensembl
ENSG00000242419
Associated Conditions (2)
Inborn genetic diseases
Neurodevelopmental disorder with poor growth and skeletal anomalies
Key Variants
RS565927415
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2154580803
Likely pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
Health Risk
RS2507903413
Likely pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
Health Risk
RS114678203
Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
Health Risk
RS1320329216
Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
Health Risk
RS2154580433
Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
Health Risk
RS2154580601
Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
Health Risk
RS2507843944
Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS565927415 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2154580803 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies |
| RS2507903413 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies |
| RS114678203 | Health Risk | Pathogenic | Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies |
| RS1320329216 | Health Risk | Pathogenic | Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies |
| RS2154580433 | Health Risk | Pathogenic | Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies |
| RS2154580601 | Health Risk | Pathogenic | Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies |
| RS2507843944 | Health Risk | Pathogenic | Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies |