SCN4A

GENERAL INFORMATION

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Gene name

SCN4A

Gene description

Sodium channel, voltage-gated, type IV, alpha subunit

Protein class

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

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (adipose tissue, skeletal muscle)
GTEx:Tissue enhanced (adipose tissue, skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

RNA data suggests expression mainly in skeletal muscle. RNA-based expert annotation gave inconclusive results.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining not consistent with RNA expression data. Presumed off target binding observed and disregarded. Pending retesting.

Data reliability

Uncertain based on 1 antibody.
HPA053992
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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
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (adipose tissue, skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (adipose tissue, skeletal muscle)

Organ

Expression



GENE INFORMATION

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Gene name

SCN4A (HGNC Symbol)

Synonyms

HYKPP, HYPP, Nav1.4, SkM1

Description

Sodium channel, voltage-gated, type IV, 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 expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]

Chromosome

17

Cytoband

q23.3

Chromosome location (bp)

63938554 - 63972918

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000007314 (version 78.38)

Entrez gene

6329

UniProt

P35499 (UniProt - Evidence at protein level)

neXtProt

NX_P35499

Antibodypedia

SCN4A antibodies


PROTEIN BROWSER

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ENST00000435607
 
ENST00000578147
 
 
 
 


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)

SCN4A-001 ENSP00000463963
ENST00000578147
J3QQZ1
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Show » Show » 1836 208.2 No >9
SCN4A-201 ENSP00000396320
ENST00000435607
P35499
Show all »
Show » Show » 1836 208.1 No >9