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SCN5A

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GENERAL INFORMATION

Gene name

 SCN5A

Gene description

 Sodium channel, voltage gated, type V alpha subunit

Protein class

 Disease related genes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Predicted localization

 Intracellular,Membrane

Number of transcripts

 11
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Cell line enhanced (LHCN-M2, RH-30)

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (LHCN-M2, RH-30)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

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

Cytoband

 p22.2

Chromosome location (bp)

 38548057 - 38649673

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000183873 (version 83.38)

Entrez gene

 6331

UniProt

 Q14524 (UniProt - Evidence at protein level)

neXtProt

 NX_Q14524

Antibodypedia

 SCN5A antibodies

PROTEIN BROWSER
«
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

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SCN5A-001
ENSP00000410257
ENST00000413689
H9KVD2 [Direct mapping]
Sodium channel protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0003360 [brainstem development]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0005515 [protein binding]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0010460 [positive regulation of heart rate]
GO:0014704 [intercalated disc]
GO:0014894 [response to denervation involved in regulation of muscle adaptation]
GO:0016020 [membrane]
GO:0017134 [fibroblast growth factor binding]
GO:0019228 [neuronal action potential]
GO:0021537 [telencephalon development]
GO:0021549 [cerebellum development]
GO:0030315 [T-tubule]
GO:0030506 [ankyrin binding]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0045760 [positive regulation of action potential]
GO:0050679 [positive regulation of epithelial cell proliferation]
GO:0055085 [transmembrane transport]
Show all
 2016 aa
226.9 kDa 		No >9
SCN5A-002
ENSP00000399524
ENST00000455624
E9PHB6 [Direct mapping]
Sodium channel protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0016020 [membrane]
GO:0019228 [neuronal action potential]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
Show all
 1983 aa
223.1 kDa 		No >9
SCN5A-003
ENSP00000398266
ENST00000423572
Q14524 [Direct mapping]
Sodium channel protein type 5 subunit alpha
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Sodium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0002027 [regulation of heart rate]
GO:0003231 [cardiac ventricle development]
GO:0003360 [brainstem development]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005622 [intracellular]
GO:0005783 [endoplasmic reticulum]
GO:0005886 [plasma membrane]
GO:0005901 [caveola]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0007411 [axon guidance]
GO:0009986 [cell surface]
GO:0010765 [positive regulation of sodium ion transport]
GO:0014704 [intercalated disc]
GO:0014894 [response to denervation involved in regulation of muscle adaptation]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016328 [lateral plasma membrane]
GO:0017134 [fibroblast growth factor binding]
GO:0019228 [neuronal action potential]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0019904 [protein domain specific binding]
GO:0021537 [telencephalon development]
GO:0021549 [cerebellum development]
GO:0030018 [Z disc]
GO:0030315 [T-tubule]
GO:0030506 [ankyrin binding]
GO:0031625 [ubiquitin protein ligase binding]
GO:0035725 [sodium ion transmembrane transport]
GO:0042383 [sarcolemma]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0044325 [ion channel binding]
GO:0045760 [positive regulation of action potential]
GO:0050679 [positive regulation of epithelial cell proliferation]
GO:0050998 [nitric-oxide synthase binding]
GO:0051899 [membrane depolarization]
GO:0055085 [transmembrane transport]
GO:0060048 [cardiac muscle contraction]
GO:0060307 [regulation of ventricular cardiac muscle cell membrane repolarization]
GO:0060371 [regulation of atrial cardiac muscle cell membrane depolarization]
GO:0060372 [regulation of atrial cardiac muscle cell membrane repolarization]
GO:0060373 [regulation of ventricular cardiac muscle cell membrane depolarization]
GO:0071277 [cellular response to calcium ion]
GO:0086002 [cardiac muscle cell action potential involved in contraction]
GO:0086004 [regulation of cardiac muscle cell contraction]
GO:0086005 [ventricular cardiac muscle cell action potential]
GO:0086006 [voltage-gated sodium channel activity involved in cardiac muscle cell action potential]
GO:0086010 [membrane depolarization during action potential]
GO:0086012 [membrane depolarization during cardiac muscle cell action potential]
GO:0086015 [SA node cell action potential]
GO:0086016 [AV node cell action potential]
GO:0086043 [bundle of His cell action potential]
GO:0086045 [membrane depolarization during AV node cell action potential]
GO:0086046 [membrane depolarization during SA node cell action potential]
GO:0086047 [membrane depolarization during Purkinje myocyte cell action potential]
GO:0086048 [membrane depolarization during bundle of His cell action potential]
GO:0086060 [voltage-gated sodium channel activity involved in AV node cell action potential]
GO:0086061 [voltage-gated sodium channel activity involved in bundle of His cell action potential]
GO:0086062 [voltage-gated sodium channel activity involved in Purkinje myocyte action potential]
GO:0086063 [voltage-gated sodium channel activity involved in SA node cell action potential]
GO:0086067 [AV node cell to bundle of His cell communication]
GO:0086091 [regulation of heart rate by cardiac conduction]
GO:0097110 [scaffold protein binding]
GO:1902305 [regulation of sodium ion transmembrane transport]
Show all
 2015 aa
226.8 kDa 		No >9
SCN5A-004
ENSP00000398962
ENST00000414099
E9PG18 [Direct mapping]
Sodium channel protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0016020 [membrane]
GO:0019228 [neuronal action potential]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
Show all
 1998 aa
224.9 kDa 		No >9
SCN5A-006
ENSP00000333674
ENST00000327956
A3EY21 [Direct mapping]
Cardiac sodium channel alpha subunit; Sodium channel protein type 5 subunit alpha
Show all
Predicted intracellular proteins
Show all
GO:0019228 [neuronal action potential]
Show all
 65 aa
7.4 kDa 		No 0
SCN5A-008
ENSP00000403355
ENST00000450102
K4DIA1 [Direct mapping]
Sodium channel protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0016020 [membrane]
GO:0019228 [neuronal action potential]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
Show all
 1962 aa
221.3 kDa 		No >9
SCN5A-010
ENSP00000413996
ENST00000449557
A0A0A0MT39 [Direct mapping]
Sodium channel protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0016020 [membrane]
GO:0019228 [neuronal action potential]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
Show all
 1962 aa
221.3 kDa 		No >9
SCN5A-014
ENSP00000328968
ENST00000333535
Q14524 [Direct mapping]
Sodium channel protein type 5 subunit alpha
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Sodium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0002027 [regulation of heart rate]
GO:0003231 [cardiac ventricle development]
GO:0003360 [brainstem development]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005622 [intracellular]
GO:0005783 [endoplasmic reticulum]
GO:0005886 [plasma membrane]
GO:0005901 [caveola]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0007411 [axon guidance]
GO:0009986 [cell surface]
GO:0010765 [positive regulation of sodium ion transport]
GO:0014704 [intercalated disc]
GO:0014894 [response to denervation involved in regulation of muscle adaptation]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016328 [lateral plasma membrane]
GO:0017134 [fibroblast growth factor binding]
GO:0019228 [neuronal action potential]
GO:0019899 [enzyme binding]
GO:0019901 [protein kinase binding]
GO:0019904 [protein domain specific binding]
GO:0021537 [telencephalon development]
GO:0021549 [cerebellum development]
GO:0030018 [Z disc]
GO:0030315 [T-tubule]
GO:0030506 [ankyrin binding]
GO:0031625 [ubiquitin protein ligase binding]
GO:0035725 [sodium ion transmembrane transport]
GO:0042383 [sarcolemma]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0044325 [ion channel binding]
GO:0045760 [positive regulation of action potential]
GO:0050679 [positive regulation of epithelial cell proliferation]
GO:0050998 [nitric-oxide synthase binding]
GO:0051899 [membrane depolarization]
GO:0055085 [transmembrane transport]
GO:0060048 [cardiac muscle contraction]
GO:0060307 [regulation of ventricular cardiac muscle cell membrane repolarization]
GO:0060371 [regulation of atrial cardiac muscle cell membrane depolarization]
GO:0060372 [regulation of atrial cardiac muscle cell membrane repolarization]
GO:0060373 [regulation of ventricular cardiac muscle cell membrane depolarization]
GO:0071277 [cellular response to calcium ion]
GO:0086002 [cardiac muscle cell action potential involved in contraction]
GO:0086004 [regulation of cardiac muscle cell contraction]
GO:0086005 [ventricular cardiac muscle cell action potential]
GO:0086006 [voltage-gated sodium channel activity involved in cardiac muscle cell action potential]
GO:0086010 [membrane depolarization during action potential]
GO:0086012 [membrane depolarization during cardiac muscle cell action potential]
GO:0086015 [SA node cell action potential]
GO:0086016 [AV node cell action potential]
GO:0086043 [bundle of His cell action potential]
GO:0086045 [membrane depolarization during AV node cell action potential]
GO:0086046 [membrane depolarization during SA node cell action potential]
GO:0086047 [membrane depolarization during Purkinje myocyte cell action potential]
GO:0086048 [membrane depolarization during bundle of His cell action potential]
GO:0086060 [voltage-gated sodium channel activity involved in AV node cell action potential]
GO:0086061 [voltage-gated sodium channel activity involved in bundle of His cell action potential]
GO:0086062 [voltage-gated sodium channel activity involved in Purkinje myocyte action potential]
GO:0086063 [voltage-gated sodium channel activity involved in SA node cell action potential]
GO:0086067 [AV node cell to bundle of His cell communication]
GO:0086091 [regulation of heart rate by cardiac conduction]
GO:0097110 [scaffold protein binding]
GO:1902305 [regulation of sodium ion transmembrane transport]
Show all
 2016 aa
226.9 kDa 		No >9
SCN5A-201
ENSP00000416634
ENST00000425664
E9PG18 [Direct mapping]
Sodium channel protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0016020 [membrane]
GO:0019228 [neuronal action potential]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
Show all
 1998 aa
224.9 kDa 		No >9
SCN5A-202
ENSP00000388797
ENST00000451551
K4DIA1 [Direct mapping]
Sodium channel protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Protein evidence (Kim et al 2014)
Show all
GO:0001518 [voltage-gated sodium channel complex]
GO:0005216 [ion channel activity]
GO:0005248 [voltage-gated sodium channel activity]
GO:0006811 [ion transport]
GO:0006814 [sodium ion transport]
GO:0016020 [membrane]
GO:0019228 [neuronal action potential]
GO:0034765 [regulation of ion transmembrane transport]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
Show all
 1962 aa
221.3 kDa 		No >9
SCN5A-203
ENSP00000479016
ENST00000612060
Q86V90 [Direct mapping]
SCN5A protein; Sodium channel protein type 5 subunit alpha
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   3TM proteins predicted by MDM
Show all
GO:0005216 [ion channel activity]
GO:0005244 [voltage-gated ion channel activity]
GO:0006811 [ion transport]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0019228 [neuronal action potential]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
Show all
 223 aa
25.4 kDa 		No 3

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.