| Variant ID | 4256 |
|---|---|
| Entrez Gene ID | 3760 |
| Gene | KCNJ3 (GeneCards) |
| Location | hg19 2:155941763-155941763
hg38 2:155085251-155085251 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.155941763 T>A (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 | -0.2986 |
| CADD Raw score (version 1.3) | 0.429641 (Deleterious) |
| FATHMM raw prediction score | 0.09705 (Tolerated) |
| Deleterious probability by DeFine | 0.0445 (Neutral) |
| Entrez Gene ID | 3760 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KCNJ3 (GeneCards) |
| Number of variants in KCNJ3 in this database | 19 (view all the variants) |
| Full name | potassium voltage-gated channel subfamily J member 3 |
| Band | 2q24.1 |
| Other IDs | Vega: OTTHUMG00000131937 OMIM: 601534 HGNC: HGNC:6264 Ensembl: ENSG00000162989 |
| Other names | KGA, GIRK1, KIR3.1 |
| Summary | Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |