| Variant ID | 2960 |
|---|---|
| Entrez Gene ID | 5581 |
| Gene | PRKCE (GeneCards) |
| Location | hg19 2:46259838-46259838
hg38 2:46032699-46032699 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.46259838 T>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9939 |
| CADD Raw score (version 1.3) | 0.695285 (Deleterious) |
| FATHMM raw prediction score | 0.89229 (Tolerated) |
| Deleterious probability by DeFine | 0.8631 (Deleterious) |
| Entrez Gene ID | 5581 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRKCE (GeneCards) |
| Number of variants in PRKCE in this database | 10 (view all the variants) |
| Full name | protein kinase C epsilon |
| Band | 2p21 |
| Other IDs | Vega: OTTHUMG00000128817 OMIM: 176975 HGNC: HGNC:9401 Ensembl: ENSG00000171132 |
| Other names | PKCE, nPKC-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] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |