Entrez Gene ID | 3756 |
---|---|
Official Gene Symbol | KCNH1 (GeneCards) |
Full name | potassium voltage-gated channel subfamily H member 1 |
Location | 1q32.2 |
Other ids | Vega : OTTHUMG00000036309 MIM : 603305 HGNC : HGNC:6250 Ensembl : ENSG00000143473 |
Other names | EAG, EAG1, ZLS1, TMBTS, h-eag, hEAG1, Kv10.1 |
Summary | Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008] |
Found 6 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
969 | 3756 | KCNH1 | 1 | 210970985 | 210970985 | Human Skin Fibroblasts | HiSeq 2500 |
1629 | 3756 | KCNH1 | 1 | 210959819 | 210959819 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
1695 | 3756 | KCNH1 | 1 | 210995133 | 210995133 | Asymptomatic | HiSeq 2500 HiSeq X Ten HiSeq 2000 |
1840 | 3756 | KCNH1 | 1 | 211032158 | 211032158 | Asymptomatic | HiSeq 2500 HiSeq X Ten HiSeq 2000 |
2380 | 3756 | KCNH1 | 1 | 210991073 | 210991073 | Asymptomatic | HiSeq 2500 HiSeq X Ten HiSeq 2000 |
2786 | 3756 | KCNH1 | 1 | 211412637 | 211412637 | Xeroderma Pigmentosum | HiSeq 2500 HiSeq X Ten HiSeq 2000 |