Entrez Gene ID | 3760 |
---|---|
Official Gene Symbol | KCNJ3 (GeneCards) |
Full name | potassium voltage-gated channel subfamily J member 3 |
Location | 2q24.1 |
Other ids | Vega : OTTHUMG00000131937 MIM : 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] |
Found 19 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
3090 | 3760 | KCNJ3 | 2 | 155685252 | 155685252 | Asymptomatic | HiSeq X Ten |
3111 | 3760 | KCNJ3 | 2 | 155618054 | 155618054 | Asymptomatic | HiSeq X Ten |
3119 | 3760 | KCNJ3 | 2 | 156030079 | 156030079 | Asymptomatic | HiSeq X Ten |
3376 | 3760 | KCNJ3 | 2 | 155611026 | 155611026 | Asymptomatic | HiSeq X Ten |
3580 | 3760 | KCNJ3 | 2 | 155858524 | 155858524 | HiSeq X Ten | |
3698 | 3760 | KCNJ3 | 2 | 155995417 | 155995417 | Asymptomatic | HiSeq X Ten |
3800 | 3760 | KCNJ3 | 2 | 155625049 | 155625049 | Asymptomatic | HiSeq X Ten |
3885 | 3760 | KCNJ3 | 2 | 155722633 | 155722633 | Asymptomatic | HiSeq X Ten |
3918 | 3760 | KCNJ3 | 2 | 155871619 | 155871619 | Asymptomatic | HiSeq X Ten |
3919 | 3760 | KCNJ3 | 2 | 156044202 | 156044202 | Asymptomatic | HiSeq X Ten |
4194 | 3760 | KCNJ3 | 2 | 156383357 | 156383357 | Asymptomatic | HiSeq X Ten |
4256 | 3760 | KCNJ3 | 2 | 155941763 | 155941763 | Cockayne syndrome | HiSeq X Ten |
4499 | 3760 | KCNJ3 | 2 | 155725488 | 155725488 | Xeroderma Pigmentosum | HiSeq X Ten |
4512 | 3760 | KCNJ3 | 2 | 156361771 | 156361771 | Xeroderma Pigmentosum | HiSeq X Ten |
4558 | 3760 | KCNJ3 | 2 | 156191637 | 156191637 | Xeroderma Pigmentosum | HiSeq X Ten |
24689 | 3760 | KCNJ3 | 2 | 156466992 | 156466992 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
24774 | 3760 | KCNJ3 | 2 | 156707230 | 156707230 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
24793 | 3760 | KCNJ3 | 2 | 156708621 | 156708621 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
25024 | 3760 | KCNJ3 | 2 | 156142673 | 156142673 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |