| Entrez Gene ID | 90134 |
|---|---|
| Official Gene Symbol | KCNH7 (GeneCards) |
| Full name | potassium voltage-gated channel subfamily H member 7 |
| Location | 2q24.2 |
| Other ids | Vega : OTTHUMG00000132069 MIM : 608169 HGNC : HGNC:18863 Ensembl : ENSG00000184611 |
| Other names | ERG3, HERG3, Kv11.3 |
| 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. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 3130 | 90134 | KCNH7 | 2 | 163442334 | 163442334 | Asymptomatic | HiSeq X Ten |
| 22671 | 90134 | KCNH7 | 2 | 163792362 | 163792362 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 24776 | 90134 | KCNH7 | 2 | 164296090 | 164296090 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 24926 | 90134 | KCNH7 | 2 | 163796729 | 163796729 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29516 | 90134 | KCNH7 | 2 | 163369171 | 163369171 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning MiSeq |