SCN2A

GENE INFORMATION

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Gene name

SCN2A (HGNC Symbol)

Synonyms

HBSCI, HBSCII, Nav1.2, SCN2A1, SCN2A2

Description

sodium channel, voltage-gated, type II, alpha subunit (HGNC Symbol)

Entrez gene summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

Chromosome

2 (Chromosome progress)

Cytoband

q24.3

Chromosome location (bp)

166095912 - 166248818

Ensembl

ENSG00000136531 (version 73.37)

Entrez gene

6326

UniProt

Q99250 (UniProt - Evidence at protein level)

neXtProt

NX_Q99250

Antibodypedia

SCN2A antibodies
 

PROTEIN VIEW

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SCN2A-001
 
SCN2A-002
 
SCN2A-003
 
SCN2A-201
 
SCN2A-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SCN2A-001 ENSP00000283256
ENST00000283256
Q99250
Show all »
Show » Show » 2005 228 No >9
SCN2A-002 ENSP00000364576
ENST00000375427
Q99250
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Show » Show » 2005 228 No >9
SCN2A-003 ENSP00000406454
ENST00000424833
A8K0U1
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Show » Show » 503 56.7 No 6
SCN2A-201 ENSP00000349973
ENST00000357398
Q99250
Show all »
Show » Show » 2005 228 No >9
SCN2A-202 ENSP00000364586
ENST00000375437
Q99250
Show all »
Show » Show » 2005 228 No >9