SCN5A

GENERAL INFORMATION

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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

12
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (heart muscle)
GTEx:Group enriched (heart muscle)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (heart muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (heart muscle)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

6331

UniProt

Q14524 (UniProt - Evidence at protein level)

neXtProt

NX_Q14524

Antibodypedia

SCN5A antibodies


PROTEIN BROWSER

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ENST00000327956
 
ENST00000333535
 
ENST00000413689
 
ENST00000414099
 
ENST00000423572
 
ENST00000425664
 
ENST00000443581
 
ENST00000449557
 
ENST00000450102
 
ENST00000451551
 
ENST00000455624
 
ENST00000612060
 
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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)

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
Q8WTQ6
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 » 2016 226.9 No >9
SCN5A-203 ENSP00000388797
ENST00000451551
K4DIA1
Show all »
Show » Show » 1962 221.3 No >9
SCN5A-204 ENSP00000479016
ENST00000612060
Q86V90
Show all »
Show » Show » 223 25.4 No 3