SCN9A Gene Summary [Human]
This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]
Details
| Type | Protein Coding |
| Official Symbol | SCN9A |
| Official Name | sodium voltage-gated channel alpha subunit 9 [Source:HGNC Symbol;Acc:HGNC:10597] |
| Ensembl ID | ENSG00000169432 |
| Bio databases IDs | |
| Aliases | sodium voltage-gated channel alpha subunit 9 |
| Synonyms | ETHA, FEB3B, GEFSP7, HSAN2D, mKIAA4197, Nav1.7, NE-NA, PN1, Scn2a, SFNP, sodium channel, voltage-gated, type IX, alpha, sodium channel, voltage-gated, type IX, α, sodium voltage-gated channel alpha subunit 9, sodium voltage-gated channel α subunit 9 |
| 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 SCN9A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sodium ion transport-associated
- Voltage-dependent L-type calcium channel, IQ-associated
- voltage-gated sodium channel
- Cytoplasmic domain of voltage-gated Na+ ion channel
- intracellular loop
- sodium channel
- Calmodulin-binding motif
- Ion transport protein
- metal ion binding
- protein binding
- ion channel
- Polycystin cation channel
Pathways
Biological processes and signaling networks where the SCN9A gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- infection
- overactive bladder syndrome
- urinary incontinence
- acute otitis media
- pain
- postoperative pain
- partial seizure
- postoperative nausea and vomiting
- paroxysmal extreme pain syndrome
role in cell
- expression in
- activation
- migration
- hyperpolarization
- hypoexcitation
- firing
- action potential
- hyperexcitation
- depolarization
- chemotaxis
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
- nodes of Ranvier
- axons
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SCN9A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cardiac muscle cell action potential involved in contraction
- sodium ion transport
- inflammatory response
- behavioral response to pain
- post-embryonic development
- sensory perception of pain
- sodium ion transmembrane transport
- circadian rhythm
- response to toxin
- detection of temperature stimulus involved in sensory perception of pain
- detection of mechanical stimulus involved in sensory perception
Cellular Component
Where in the cell the gene product is active
- voltage-gated sodium channel complex
- plasma membrane
- axon
Molecular Function
What the gene product does at the molecular level
- protein binding
- voltage-gated sodium channel activity