KCNH3 Gene Summary [Human]
The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | KCNH3 |
| Official Name | potassium voltage-gated channel subfamily H member 3 [Source:HGNC Symbol;Acc:HGNC:6252] |
| Ensembl ID | ENSG00000135519 |
| Bio databases IDs | |
| Aliases | potassium voltage-gated channel subfamily H member 3 |
| Synonyms | AU019351, BEC1, C030044P22RIK, ELK2, Kv12.2, LOC102551241, Melk2, potassium voltage-gated channel, subfamily H (eag-related), member 3, potassium voltage-gated channel subfamily H member 3 |
| 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 KCNH3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- inward rectifier potassium channel
- Ion transport protein
- PAS domain S-box
- PAS
- protein binding
- ion channel
- PAS fold
- Cyclic nucleotide-monophosphate binding domain
- Cyclic nucleotide-binding domain
- voltage-gated potassium channel
- PAS domain
- 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
- schizophrenia
- attention deficit hyperactivity disorder
- Tourette syndrome
- papillary renal cell carcinoma
- papillary renal cell neoplasia
- renal cell cancer
- seizures
- nonconvulsive seizure
regulates
- K+
role in cell
- excitability
- long-term potentiation
- response
- plasticity
- transmission
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
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNH3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion transport
- regulation of membrane potential
- potassium ion transmembrane transport
Cellular Component
Where in the cell the gene product is active
- membrane
- ion channel complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- voltage-gated potassium channel activity
- protein binding