PCDHGB4
protocadherin gamma subfamily B, 4
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. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs372819071 | 5:140,767,731 | G/A | — | uncertain significance |
| rs1589055013 | 5:140,767,777 | T/C | — | uncertain significance |
| rs2482576127 | 5:140,767,840 | C/T | — | uncertain significance |
| rs1307942270 | 5:140,767,893 | C/A | — | uncertain significance |
| rs558931275 | 5:140,768,170 | C/T | — | uncertain significance |
| rs762612048 | 5:140,768,179 | G/A | — | uncertain significance |
| rs778996768 | 5:140,768,214 | G/A | — | uncertain significance |
| rs186708822 | 5:140,768,218 | A/G | — | uncertain significance |
| rs2091456760 | 5:140,768,262 | G/A | — | uncertain significance |
| rs201901866 | 5:140,768,269 | T/G | — | likely benign |
| rs764003797 | 5:140,768,275 | C/A | — | uncertain significance |
| rs2091468614 | 5:140,768,289 | T/C | — | uncertain significance |
| rs1383090266 | 5:140,768,395 | T/C | — | uncertain significance |
| rs758753526 | 5:140,768,413 | A/G | — | uncertain significance |
| rs1487226750 | 5:140,768,428 | T/C | — | uncertain significance |
| rs201053346 | 5:140,768,442 | G/T | — | uncertain significance |
| rs772950330 | 5:140,768,494 | A/G | — | uncertain significance |
| rs2482693522 | 5:140,768,521 | A/G | — | uncertain significance |
| rs753258464 | 5:140,768,533 | G/T | — | uncertain significance |
| rs1163632351 | 5:140,768,564 | C/G | — | uncertain significance |
| rs757594459 | 5:140,768,572 | C/T | — | uncertain significance |
| rs369044087 | 5:140,768,673 | C/G | — | uncertain significance |
| rs754294132 | 5:140,768,688 | A/G | — | uncertain significance |
| rs1280956707 | 5:140,768,745 | T/G | — | uncertain significance |
| rs376221362 | 5:140,768,806 | A/G | — | uncertain significance |
| rs998614321 | 5:140,768,820 | G/T | — | uncertain significance |
| rs1651103722 | 5:140,768,885 | C/G | — | uncertain significance |
| rs752301649 | 5:140,768,889 | G/C | — | uncertain significance |
| rs1230521211 | 5:140,768,890 | G/T | — | uncertain significance |
| rs745778398 | 5:140,768,917 | T/G | — | uncertain significance |
| rs763455438 | 5:140,768,951 | A/G | — | likely benign |
| rs766779419 | 5:140,768,953 | C/G | — | uncertain significance |
| rs1282903610 | 5:140,768,956 | A/C | — | uncertain significance |
| rs1039259671 | 5:140,768,979 | G/A | — | uncertain significance |
| rs779826135 | 5:140,768,990 | C/G | — | uncertain significance |
| rs746873845 | 5:140,768,991 | G/A | — | uncertain significance |
| rs201120335 | 5:140,769,006 | G/T | — | uncertain significance |
| rs746309479 | 5:140,769,090 | C/T | — | uncertain significance |
| rs199537783 | 5:140,769,103 | A/G | — | likely benign |
| rs2482813882 | 5:140,769,112 | A/G | — | uncertain significance |
| rs757362223 | 5:140,769,133 | T/A | — | uncertain significance |
| rs369593580 | 5:140,769,153 | G/A | — | uncertain significance |
| rs375985151 | 5:140,769,184 | A/G | — | likely benign |
| rs763321545 | 5:140,769,366 | C/A | — | uncertain significance |
| rs1254438724 | 5:140,769,384 | C/T | — | uncertain significance |
| rs754189855 | 5:140,769,394 | G/A | — | uncertain significance |
| rs758113562 | 5:140,769,399 | C/T | — | uncertain significance |
| rs558691778 | 5:140,769,411 | G/A | — | uncertain significance |
| rs572208776 | 5:140,769,412 | C/A | — | uncertain significance |
| rs747654268 | 5:140,769,483 | G/C | — | uncertain significance |
| rs375422602 | 5:140,769,540 | A/C | — | uncertain significance |
| rs757019379 | 5:140,769,573 | G/T | — | uncertain significance |
| rs774456704 | 5:140,769,580 | C/T | — | uncertain significance |
| rs1386460009 | 5:140,769,585 | C/T | — | uncertain significance |
| rs1047341984 | 5:140,769,586 | G/A | — | uncertain significance |
| rs2482920025 | 5:140,769,697 | C/T | — | uncertain significance |
| rs768850867 | 5:140,769,717 | C/A | — | uncertain significance |
| rs765243043 | 5:140,769,786 | T/C | — | uncertain significance |
| rs758225583 | 5:140,769,789 | G/A | — | uncertain significance |
| rs886390636 | 5:140,769,792 | G/A | — | uncertain significance |
| rs572457971 | 5:140,805,886 | C/T | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.