Summary: 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].

sodium voltage-gated channel alpha subunit 2MIM:182390Ensembl:ENSG00000136531HGNC:HGNC:10588PA350042q24.3

GO terms in SCN2A

Term TypeEvidence TypeGO Term IDGO Des.
CCIEAGO:0001518voltage-gated sodium channel complex
CCIBAGO:0005886plasma membrane
CCTASGO:0005887integral component of plasma membrane
CCIEAGO:0014704intercalated disc
CCISSGO:0031226intrinsic component of plasma membrane
CCISSGO:0033268node of Ranvier
CCIEAGO:0033270paranode region of axon
CCISSGO:0034706sodium channel complex
BPTASGO:0006814sodium ion transport
BPIEAGO:0008627intrinsic apoptotic signaling pathway in response to osmotic stress
BPIBAGO:0019228neuronal action potential
BPIEAGO:0034765regulation of ion transmembrane transport
BPIBAGO:0035725sodium ion transmembrane transport
BPISSGO:0035725sodium ion transmembrane transport
BPIEAGO:0051402neuron apoptotic process
BPIBAGO:0086010membrane depolarization during action potential
MFIEAGO:0005244voltage-gated ion channel activity
MFIBAGO:0005248voltage-gated sodium channel activity
MFIMPGO:0005248voltage-gated sodium channel activity
MFISSGO:0005248voltage-gated sodium channel activity
MFIBAGO:0005261cation channel activity

Gene expression in normal tissue: SCN2A

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SCN2A

DatabasePathway IDPathway Des.
kegghsa04742Taste transduction - Homo sapiens (human)
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-373760L1CAM interactions
reactomeR-HSA-397014Muscle contraction
reactomeR-HSA-422475Axon guidance
reactomeR-HSA-445095Interaction between L1 and Ankyrins
reactomeR-HSA-5576891Cardiac conduction
reactomeR-HSA-5576892Phase 0 - rapid depolarisation

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SCN2A