PRKD3
protein kinase D3
Summary
This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking. [provided by RefSeq, Jan 2015]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141147191 | 2:37,480,347 | A/T | — | uncertain significance |
| rs888648394 | 2:37,480,349 | T/G | — | uncertain significance |
| rs769449366 | 2:37,480,451 | T/C | — | uncertain significance |
| rs1405945703 | 2:37,480,453 | C/T | — | uncertain significance |
| rs1475352117 | 2:37,480,493 | C/G | — | uncertain significance |
| rs757179385 | 2:37,483,973 | G/A | — | uncertain significance |
| rs775758020 | 2:37,484,045 | G/A | — | uncertain significance |
| rs577106756 | 2:37,484,580 | G/A | — | — |
| rs774415395 | 2:37,487,391 | C/T | — | uncertain significance |
| rs1055767104 | 2:37,487,517 | T/A | — | uncertain significance |
| rs55942529 | 2:37,488,437 | G/C | — | — |
| rs188803710 | 2:37,496,472 | C/T | intron variant | — |
| rs13390055 | 2:37,498,452 | A/G | intron variant | — |
| rs1286077413 | 2:37,501,633 | G/A | — | uncertain significance |
| rs928644327 | 2:37,501,683 | G/C | — | uncertain significance |
| rs774634026 | 2:37,501,726 | C/A | — | uncertain significance |
| rs767096029 | 2:37,501,770 | T/C | — | uncertain significance |
| rs145739051 | 2:37,501,813 | T/C | — | likely benign |
| rs2465536851 | 2:37,505,026 | T/C | — | uncertain significance |
| rs374382574 | 2:37,505,072 | C/G | — | uncertain significance |
| rs139524899 | 2:37,506,926 | C/T | — | uncertain significance |
| rs753563820 | 2:37,507,024 | T/C | — | likely benign |
| rs749894949 | 2:37,507,042 | A/G | — | uncertain significance |
| rs201117785 | 2:37,509,690 | T/C | — | uncertain significance |
| rs192490203 | 2:37,509,692 | G/C | — | uncertain significance |
| rs984132505 | 2:37,513,341 | G/A | — | uncertain significance |
| rs876461 | 2:37,515,958 | G/A | intron variant | — |
| rs137924816 | 2:37,516,602 | C/T | — | uncertain significance |
| rs1345406741 | 2:37,516,614 | G/A | — | uncertain significance |
| rs1670388815 | 2:37,518,074 | T/C | — | uncertain significance |
| rs765855926 | 2:37,520,405 | A/C | — | uncertain significance |
| rs185216337 | 2:37,526,414 | G/T | intron variant | — |
| rs57361399 | 2:37,528,311 | C/T | intron variant | — |
| rs143457389 | 2:37,528,908 | T/C | intron variant | — |
| rs146759773 | 2:37,533,067 | C/G | intron variant | — |
| rs115859306 | 2:37,538,320 | G/A | — | — |
| rs145551093 | 2:37,540,535 | A/T | intron variant | — |
| rs188162608 | 2:37,540,960 | C/T | intron variant | — |
| rs79606218 | 2:37,541,511 | A/G | intron variant | — |
| rs201869078 | 2:37,543,444 | A/G | — | uncertain significance |
| rs948599554 | 2:37,543,487 | A/T | — | uncertain significance |
| rs1184649029 | 2:37,543,541 | C/T | — | uncertain significance |
| rs950826254 | 2:37,543,622 | G/T | — | uncertain significance |
| rs1671663670 | 2:37,543,623 | T/A | — | uncertain significance |
| rs7584565 | 2:37,550,903 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.