KCNK9 Gene Summary [Human]
This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | KCNK9 |
| Official Name | potassium two pore domain channel subfamily K member 9 [Source:HGNC Symbol;Acc:HGNC:6283] |
| Ensembl ID | ENSG00000169427 |
| Bio databases IDs | |
| Aliases | potassium two pore domain channel subfamily K member 9, TWIK-related acid-sensitive K+ 3 |
| Synonyms | A930009L07Rik, BIBARS, K2p9.1, KT3.2, potassium channel, subfamily K, member 9, potassium two pore domain channel subfamily K member 9, TASK-3, TASK32 |
| 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 KCNK9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- potassium channel
- outward rectifier potassium channel
- voltage-gated potassium channel
- sodium channel
- protein binding
- identical protein binding
- ion channel
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic obstructive pulmonary disease
- hereditary disorder
- hypercapnia
- Birk-Barel syndrome
- apnea
- respiratory depression
- respiratory insufficiency
- pervasive developmental disorder
- apnea of prematurity
- central nervous system depression
role in cell
- proliferation
- cell death
- migration
- action potential
- excitation
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
- Cytoplasm
- cellular membrane
- mitochondrial inner membrane
- synaptic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNK9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion transport
- potassium ion transmembrane transport
- stabilization of membrane potential
Cellular Component
Where in the cell the gene product is active
- synaptic vesicle
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- outward rectifier potassium channel activity
- potassium channel activity
- potassium ion leak channel activity