InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SCN11A

Summary

InnateDB Protein

IDBP-372512.5

Last Modified

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

Gene Symbol

SCN11A

Protein Name

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

Synonyms

FEPS3; HSAN7; NaN; NAV1.9; PN5; SCN12A; SNS-2;

Species

Homo sapiens

Ensembl Protein

ENSP00000408028

InnateDB Gene

IDBG-26272 (SCN11A)

Protein Structure

UniProt Annotation

Function

This protein 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 sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization. {ECO:0000269PubMed:10580103, ECO:0000269PubMed:12384689}.

Subcellular Localization

Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.

Disease Associations

Neuropathy, hereditary sensory and autonomic, 7 (HSAN7) [MIM:615548]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction. {ECO:0000269PubMed:24036948}. Note=The disease is caused by mutations affecting the gene represented in this entry.Episodic pain syndrome, familial, 3 (FEPS3) [MIM:615552]: An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue. {ECO:0000269PubMed:24207120}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the dorsal root ganglia and trigeminal ganglia, olfactory bulb, hippocampus, cerebellar cortex, spinal cord, spleen, small intestine and placenta. {ECO:0000269PubMed:10623608, ECO:0000269PubMed:15302875}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

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:0008219	cell death
GO:0019228	neuronal action potential
GO:0034765	regulation of ion transmembrane transport
GO:0035725	sodium ion transmembrane transport
GO:0042493	response to drug
GO:0051930	regulation of sensory perception of pain
GO:0055085	transmembrane transport
GO:0086010	membrane depolarization during action potential