InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SCN2A

Summary

InnateDB Protein

IDBP-73976.6

Last Modified

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

Gene Symbol

SCN2A

Protein Name

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

Synonyms

BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2;

Species

Homo sapiens

Ensembl Protein

ENSP00000364586

InnateDB Gene

IDBG-74003 (SCN2A)

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. {ECO:0000269PubMed:1325650}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:1325650}; Multi-pass membrane protein {ECO:0000269PubMed:1325650}.

Disease Associations

Seizures, benign familial infantile 3 (BFIS3) [MIM:607745]: An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. {ECO:0000269PubMed:11371648, ECO:0000269PubMed:12243921, ECO:0000269PubMed:15048894, ECO:0000269PubMed:20371507}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721]: An autosomal dominant seizure disorder characterized by neonatal or infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269PubMed:19786696, ECO:0000269PubMed:20956790, ECO:0000269PubMed:23550958, ECO:0000269PubMed:23935176}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [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
GO:0005515	protein binding

Biological Process

GO:0006811	ion transport
GO:0006814	sodium ion transport
GO:0007399	nervous system development
GO:0008627	intrinsic apoptotic signaling pathway in response to osmotic stress
GO:0019228	neuronal action potential
GO:0034765	regulation of ion transmembrane transport
GO:0035725	sodium ion transmembrane transport
GO:0042552	myelination
GO:0051402	neuron apoptotic process
GO:0055085	transmembrane transport
GO:0086010	membrane depolarization during action potential

Cellular Component

GO:0001518	voltage-gated sodium channel complex
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0014704	intercalated disc
GO:0016020	membrane
GO:0030315	T-tubule
GO:0030424	axon
GO:0031226	intrinsic component of plasma membrane
GO:0033268	node of Ranvier
GO:0033270	paranode region of axon
GO:0034706	sodium channel complex

Protein Structure and Domains

PDB ID

InterPro

IPR000048 IQ motif, EF-hand binding site
IPR001696 Voltage gated sodium channel, alpha subunit
IPR003915 Polycystic kidney disease type 2 protein
IPR005821 Ion transport domain
IPR010526 Sodium ion transport-associated
IPR013122 Polycystin cation channel, PKD1/PKD2
IPR024583 Domain of unknown function DUF3451

PFAM

PF00612
PF00520
PF06512
PF08016
PF11933

PRINTS

PR00170
PR01433

PIRSF

SMART

SM00015

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt