KCNH8 Gene Summary [Human]
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. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | KCNH8 |
| Official Name | potassium voltage-gated channel subfamily H member 8 [Source:HGNC Symbol;Acc:HGNC:18864] |
| Ensembl ID | ENSG00000183960 |
| Bio databases IDs | |
| Aliases | potassium voltage-gated channel subfamily H member 8 |
| Synonyms | C130090D05RIK, ELK, ELK1, ELK3, Ets-1, hElk-1, Kv12.1, LOC100504205, potassium voltage-gated channel, subfamily H (eag-related), member 8, potassium voltage-gated channel subfamily H member 8, RELK3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KCNH8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- delayed rectifier potassium channel
- Ion transport protein
- nucleic acid binding
- PAS domain S-box
- PAS
- sequence-specific DNA binding
- ion channel
- PAS fold
- Cyclic nucleotide-monophosphate binding domain
- Cyclic nucleotide-binding domain
- voltage-gated potassium channel
- PAS domain
- double-stranded DNA binding
- Motif C-terminal to PAS motifs (likely to contribute to PAS structural domain)
- CAP_ED
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- chronic venous insufficiency
- major depression
- progressive myoclonic epilepsy type 4 with renal failure
- angina pectoris
regulates
- K+
role in cell
- apoptosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- nuclear fraction
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNH8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of membrane potential
- potassium ion transmembrane transport
Cellular Component
Where in the cell the gene product is active
- ion channel complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- voltage-gated potassium channel activity