KCNC3 Gene Summary [Human]
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]
Details
| Type | Protein Coding |
| Official Symbol | KCNC3 |
| Official Name | potassium voltage-gated channel subfamily C member 3 [Source:HGNC Symbol;Acc:HGNC:6235] |
| Ensembl ID | ENSG00000131398 |
| Bio databases IDs | |
| Aliases | potassium voltage-gated channel subfamily C member 3 |
| Synonyms | Kcr2-3, KSHIIID, KV3.3, potassium voltage gated channel, Shaw-related subfamily, member 3, potassium voltage-gated channel subfamily C member 3, SCA13 |
| 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 KCNC3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- voltage-gated potassium channel
- Ion transport protein
- Broad-Complex, Tramtrack and Bric a brac
- BTB_POZ
- protein binding
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- secondary progressive multiple sclerosis
- primary progressive multiple sclerosis
- hereditary disorder
- relapsing-remitting multiple sclerosis
- nonarteritic ischemic optic neuropathy
- spinocerebellar ataxia 13
- ataxia
- multiple sclerosis
- tremor
- weight loss
regulates
- K+
- neurotransmitter
role in cell
- firing
- organization
- action potential
- endocytosis
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
- glutaminergic synapse
- cellular membrane
- cell cortex
- presynaptic membrane
- postsynaptic membrane
- neuromuscular junctions
- axonal membrane
- perikaryon
- dendrites
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNC3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- potassium ion transport
- cortical actin cytoskeleton organization
- potassium ion transmembrane transport
- protein tetramerization
- protein homooligomerization
- regulation of action potential
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- dendrite membrane
- dendritic spine membrane
- voltage-gated potassium channel complex
- neuronal cell body membrane
- perikaryon
- axon terminus
- plasma membrane
- dendrite
- cytoskeleton
- postsynaptic membrane
- cell cortex
Molecular Function
What the gene product does at the molecular level
- voltage-gated potassium channel activity
- protein binding
- delayed rectifier potassium channel activity