PCDHGC3
protocadherin gamma subfamily C, 3
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]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1011341002 | 5:140,855,708 | G/A | — | uncertain significance |
| rs376905832 | 5:140,855,861 | A/T | — | uncertain significance |
| rs370299433 | 5:140,855,927 | G/A | — | uncertain significance |
| rs777831089 | 5:140,855,949 | A/G | — | uncertain significance |
| rs2504730365 | 5:140,855,979 | G/T | — | uncertain significance |
| rs367700651 | 5:140,856,118 | C/G | — | uncertain significance |
| rs746783993 | 5:140,856,141 | G/A | — | uncertain significance |
| rs769858609 | 5:140,856,177 | G/A | — | uncertain significance |
| rs753538822 | 5:140,856,243 | G/A | — | uncertain significance |
| rs146188020 | 5:140,856,281 | C/G | — | uncertain significance |
| rs201463036 | 5:140,856,347 | C/T | — | uncertain significance |
| rs762433242 | 5:140,856,423 | C/A | — | uncertain significance |
| rs374253072 | 5:140,856,461 | G/A | — | uncertain significance |
| rs538990482 | 5:140,856,510 | A/G | — | uncertain significance |
| rs572603287 | 5:140,856,604 | G/T | — | uncertain significance |
| rs1476053917 | 5:140,856,641 | A/T | — | uncertain significance |
| rs781591902 | 5:140,856,653 | G/A | — | uncertain significance |
| rs2505000163 | 5:140,856,671 | A/G | — | uncertain significance |
| rs778372966 | 5:140,856,672 | A/G | — | likely benign |
| rs147392557 | 5:140,856,729 | C/A | — | uncertain significance |
| rs1456451105 | 5:140,856,944 | C/T | — | uncertain significance |
| rs749100730 | 5:140,857,133 | C/T | — | uncertain significance |
| rs2505178128 | 5:140,857,165 | C/G | — | uncertain significance |
| rs201987467 | 5:140,857,193 | G/A | — | uncertain significance |
| rs757157488 | 5:140,857,235 | A/G | — | likely benign |
| rs1206813120 | 5:140,857,254 | C/A | — | uncertain significance |
| rs768705340 | 5:140,857,289 | A/G | — | uncertain significance |
| rs775845004 | 5:140,857,344 | A/G | — | uncertain significance |
| rs778851755 | 5:140,857,362 | G/A | — | uncertain significance |
| rs758205179 | 5:140,857,380 | A/G | — | uncertain significance |
| rs2505322106 | 5:140,857,436 | T/C | — | uncertain significance |
| rs750359063 | 5:140,857,458 | G/T | — | uncertain significance |
| rs748462670 | 5:140,857,577 | C/T | — | uncertain significance |
| rs776415195 | 5:140,857,584 | T/C | — | uncertain significance |
| rs202185809 | 5:140,857,731 | C/G | — | uncertain significance |
| rs558944208 | 5:140,857,754 | A/G | — | uncertain significance |
| rs759439765 | 5:140,857,766 | C/A | — | uncertain significance |
| rs147994096 | 5:140,857,861 | A/G | — | benign |
| rs767743120 | 5:140,857,919 | G/T | — | uncertain significance |
| rs2505611702 | 5:140,858,033 | A/C | — | uncertain significance |
| rs1328089059 | 5:140,858,099 | G/A | — | uncertain significance |
| rs150684746 | 5:140,889,372 | G/A | intron variant | — |
| rs2233612 | 5:140,890,581 | A/G | — | benign |
| rs13159206 | 5:140,892,809 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.