PRKCB
protein kinase C beta
Summary
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and 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 protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2506948286 | 16:23,847,512 | G/A | — | uncertain significance |
| rs1243136292 | 16:23,847,537 | A/T | — | uncertain significance |
| rs146177740 | 16:23,847,583 | G/A | — | likely benign |
| rs2506948603 | 16:23,847,591 | A/T | — | uncertain significance |
| rs2506948750 | 16:23,847,636 | C/T | — | uncertain significance |
| rs115667450 | 16:23,847,658 | C/T | — | benign |
| rs7404095 | 16:23,864,590 | T/G | — | — |
| rs79401250 | 16:23,871,457 | T/G | regulatory region variant | — |
| rs3826261 | 16:23,877,175 | G/T | — | — |
| rs1858867 | 16:23,885,171 | T/G | — | — |
| rs7404928 | 16:23,888,840 | T/C | regulatory region variant | — |
| rs16972959 | 16:23,901,376 | G/A | intron variant | — |
| rs576091295 | 16:23,923,354 | T/C | — | — |
| rs1131692056 | 16:23,999,898 | G/T | — | pathogenic |
| rs778983154 | 16:24,043,491 | C/T | — | uncertain significance |
| rs145719494 | 16:24,044,921 | A/G | intron variant | — |
| rs11643225 | 16:24,046,655 | G/T | intron variant | — |
| rs759666193 | 16:24,046,745 | A/G | — | uncertain significance |
| rs1402100403 | 16:24,046,844 | G/A | — | uncertain significance |
| rs115645964 | 16:24,046,852 | C/T | — | likely benign |
| rs116345778 | 16:24,046,861 | T/C | — | benign |
| rs3729896 | 16:24,104,188 | C/T | — | benign |
| rs114093019 | 16:24,105,499 | G/A | — | benign |
| rs147975795 | 16:24,124,365 | A/G | — | likely benign |
| rs198198 | 16:24,128,397 | T/G | — | — |
| rs202044032 | 16:24,135,187 | C/T | — | uncertain significance |
| rs749243156 | 16:24,135,217 | A/G | — | uncertain significance |
| rs114856527 | 16:24,135,218 | A/G | — | likely benign |
| rs149128755 | 16:24,135,232 | G/C | — | conflicting classifications of pathogenicity |
| rs1163412779 | 16:24,135,244 | G/A | — | uncertain significance |
| rs2506613529 | 16:24,135,288 | G/A | — | uncertain significance |
| rs395897 | 16:24,162,382 | G/C | intron variant | — |
| rs200238437 | 16:24,166,089 | G/A | — | uncertain significance |
| rs775901586 | 16:24,166,114 | G/A | — | uncertain significance |
| rs761166216 | 16:24,166,116 | G/T | — | uncertain significance |
| rs141827066 | 16:24,166,139 | G/T | — | likely benign |
| rs1281418911 | 16:24,183,594 | C/T | — | uncertain significance |
| rs1016918004 | 16:24,183,595 | G/A | — | uncertain significance |
| rs1448376098 | 16:24,185,886 | A/G | — | uncertain significance |
| rs115420860 | 16:24,192,107 | A/G | — | benign |
| rs1003838471 | 16:24,192,130 | G/A | — | uncertain significance |
| rs376039132 | 16:24,196,446 | G/A | — | likely benign |
| rs1205615783 | 16:24,196,781 | G/A | — | uncertain significance |
| rs114192994 | 16:24,202,407 | G/A | — | benign |
| rs1280319280 | 16:24,202,415 | T/C | — | uncertain significance |
| rs561468141 | 16:24,226,064 | A/G | — | uncertain significance |
| rs772098050 | 16:24,226,122 | C/T | — | likely benign |
| rs2506810091 | 16:24,226,126 | G/T | — | uncertain significance |
| rs778710250 | 16:24,231,308 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.