PRKCE
protein kinase C epsilon
Summary
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq, Jul 2008]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2465932822 | 2:45,879,246 | G/C | — | uncertain significance |
| rs4953256 | 2:46,005,646 | G/C | regulatory region variant | — |
| rs6737567 | 2:46,007,655 | C/T | intron variant | — |
| rs6706095 | 2:46,075,677 | T/G | intron variant | — |
| rs66497228 | 2:46,110,043 | G/T | regulatory region variant | — |
| rs12989861 | 2:46,171,293 | G/C | — | — |
| rs6751349 | 2:46,176,962 | C/T | — | — |
| rs752964225 | 2:46,203,604 | G/A | — | uncertain significance |
| rs1470650959 | 2:46,203,621 | C/A | — | likely benign |
| rs13396424 | 2:46,205,039 | T/A | — | — |
| rs746022435 | 2:46,211,732 | G/A | — | uncertain significance |
| rs41305977 | 2:46,228,693 | G/A | — | benign |
| rs770831489 | 2:46,234,618 | A/G | — | uncertain significance |
| rs2545401072 | 2:46,234,631 | A/C | — | uncertain significance |
| rs41281465 | 2:46,234,641 | G/A | — | benign |
| rs1301202682 | 2:46,234,643 | T/A | — | uncertain significance |
| rs919285181 | 2:46,234,688 | G/C | — | uncertain significance |
| rs55767130 | 2:46,234,703 | C/G | — | uncertain significance |
| rs772347149 | 2:46,234,741 | C/T | — | uncertain significance |
| rs56005919 | 2:46,237,530 | G/A | — | benign |
| rs61730655 | 2:46,237,584 | A/G | — | benign |
| rs1868274 | 2:46,309,262 | C/G | upstream gene variant | — |
| rs2545805748 | 2:46,313,370 | A/T | — | uncertain significance |
| rs773271544 | 2:46,313,428 | C/A | — | uncertain significance |
| rs74990336 | 2:46,313,438 | G/A | — | likely benign |
| rs765421914 | 2:46,313,442 | C/G | — | uncertain significance |
| rs1669634029 | 2:46,313,444 | A/G | — | uncertain significance |
| rs12373805 | 2:46,321,094 | G/A | intron variant | — |
| rs4953312 | 2:46,328,129 | T/C | intron variant | — |
| rs12712969 | 2:46,332,169 | C/T | — | — |
| rs10495928 | 2:46,353,166 | A/G | intron variant | — |
| rs4953318 | 2:46,355,051 | A/C | intron variant | — |
| rs13008603 | 2:46,355,848 | C/A | intron variant | — |
| rs145857205 | 2:46,356,310 | C/G | intron variant | — |
| rs10168349 | 2:46,360,907 | G/C | intron variant | — |
| rs1553363925 | 2:46,378,243 | G/A | — | pathogenic |
| rs2546108811 | 2:46,378,341 | C/A | — | uncertain significance |
| rs35777875 | 2:46,386,784 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.