SCN5A

GENE INFORMATION

? »

Gene name

SCN5A (HGNC Symbol)

Synonyms

CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1

Description

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

Entrez gene summary

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Chromosome

3 (Chromosome progress)

Cytoband

p22.2

Chromosome location (bp)

38589548 - 38691164

Ensembl

ENSG00000183873 (version 73.37)

Entrez gene

6331

UniProt

Q14524 (UniProt - Evidence at protein level)

neXtProt

NX_Q14524

Antibodypedia

SCN5A antibodies
 

PROTEIN VIEW

? »
 
 
 « 
 
SCN5A-001
 
SCN5A-002
 
SCN5A-003
 
SCN5A-004
 
SCN5A-006
 
SCN5A-008
 
SCN5A-010
 
SCN5A-014
 
SCN5A-201
 
SCN5A-202
 
SCN5A-203
 
 » 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SCN5A-001 ENSP00000410257
ENST00000413689
H9KVD2
Show all »
Show » Show » 2016 226.9 No >9
SCN5A-002 ENSP00000399524
ENST00000455624
E9PHB6
Show all »
Show » Show » 1983 223.1 No >9
SCN5A-003 ENSP00000398266
ENST00000423572
Q14524
Show all »
Show » Show » 2015 226.8 No >9
SCN5A-004 ENSP00000398962
ENST00000414099
E9PG18
Show all »
Show » Show » 1998 224.9 No >9
SCN5A-006 ENSP00000333674
ENST00000327956
A3EY21
Show all »
Show » 65 7.4 No 0
SCN5A-008 ENSP00000403355
ENST00000450102
K4DIA1
Show all »
Show » Show » 1962 221.3 No >9
SCN5A-010 ENSP00000413996
ENST00000449557
E7ET19
Show all »
Show » Show » 1962 221.3 No >9
SCN5A-014 ENSP00000328968
ENST00000333535
Q14524
Show all »
Show » Show » 2016 226.9 No >9
SCN5A-201 ENSP00000416634
ENST00000425664
E9PG18
Show all »
Show » Show » 1998 224.9 No >9
SCN5A-202 ENSP00000397915
ENST00000443581
Q14524
Show all »
Show » Show » 2015 226.8 No >9
SCN5A-203 ENSP00000388797
ENST00000451551
K4DIA1
Show all »
Show » Show » 1962 221.3 No >9