InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SCN9A

Summary

InnateDB Protein

IDBP-387213.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SCN9A

Protein Name

sodium channel, voltage-gated, type IX, alpha subunit

Synonyms

ETHA; FEB3B; GEFSP7; Nav1.7; NE-NA; NENA; PN1; SFNP;

Species

Homo sapiens

Ensembl Protein

ENSP00000413212

InnateDB Gene

IDBG-74205 (SCN9A)

Protein Structure

UniProt Annotation

Function

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-sensitive Na(+) channel isoform. Plays a role in pain mechanisms, especially in the development of inflammatory pain (By similarity). {ECO:0000250}.

Subcellular Localization

Membrane; Multi-pass membrane protein. Note=In neurite terminals. {ECO:0000250}.

Disease Associations

Primary erythermalgia (PERYTHM) [MIM:133020]: Autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands. {ECO:0000269PubMed:14985375, ECO:0000269PubMed:15955112, ECO:0000269PubMed:15958509, ECO:0000269PubMed:16216943, ECO:0000269PubMed:16392115, ECO:0000269PubMed:19369487}. Note=The disease is caused by mutations affecting the gene represented in this entry.Congenital indifference to pain autosomal recessive (CIPAR) [MIM:243000]: A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating. {ECO:0000269PubMed:20635406}. Note=The disease is caused by mutations affecting the gene represented in this entry.Paroxysmal extreme pain disorder (PEPD) [MIM:167400]: Autosomal dominant paroxysmal disorder of pain and autonomic dysfunction. The distinctive features are paroxysmal episodes of burning pain in the rectal, ocular, and mandibular areas accompanied by autonomic manifestations such as skin flushing. {ECO:0000269PubMed:17145499}. Note=The disease is caused by mutations affecting the gene represented in this entry.Generalized epilepsy with febrile seizures plus 7 (GEFS+7) [MIM:613863]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269PubMed:19763161}. Note=The disease is caused by mutations affecting the gene represented in this entry.Febrile seizures, familial, 3B (FEB3B) [MIM:613863]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO:0000269PubMed:19763161}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed strongly in dorsal root ganglion, with only minor levels elsewhere in the body, smooth muscle cells, MTC cell line and C-cell carcinoma. Isoform 1 is expressed preferentially in the central and peripheral nervous system. Isoform 2 is expressed preferentially in the dorsal root ganglion. {ECO:0000269PubMed:15178348, ECO:0000269PubMed:15302875, ECO:0000269PubMed:7720699, ECO:0000269PubMed:9169448}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005248	voltage-gated sodium channel activity

Biological Process

GO:0006811	ion transport
GO:0006814	sodium ion transport
GO:0019228	neuronal action potential
GO:0034765	regulation of ion transmembrane transport
GO:0035725	sodium ion transmembrane transport
GO:0055085	transmembrane transport
GO:0086010	membrane depolarization during action potential