Fields »

GENE AND PROTEIN SUMMARY

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Gene name

SCN5A

Description

sodium channel, voltage-gated, type V, alpha subunit

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters, Voltage-gated ion channels

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

11 in total
10 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Not detected

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-

A-549 Lung Low

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-

CACO-2 Colon Low

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-

HEK 293 Embryonal kidney Low

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-

HeLa Cervix Not detected

-

-

Hep-G2 Liver Not detected

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-

MCF-7 Pleural effusion Low

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-

PC-3 Bone marrow Low

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-

RT-4 Urinary bladder Low

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-

U-2 OS Bone Low

-

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U-251 MG Brain Not detected

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-

ANTIBODY SUMMARY

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Pending antibodies