SCN2A

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

Description

Sodium voltage-gated channel alpha subunit 2

Tissue specificity

Tissue enriched (brain)

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters
Voltage-gated ion channels

Chromosome

2 (165194993 - 165392310)

Ensembl ID

ENSG00000136531  (ver. 103.38)

Orthologs

Mouse Scn2a: ENSMUSG00000075318

UniProt

Q99250

neXtProt

NX_Q99250

Human splice variants
Mouse splice variants

Protein structure