(Q14905707)

English

SCN4A

protein-coding gene in the species Homo sapiens

CMS16
HOKPP2
HYKPP
HYPP
NAC1A
Na(V)1.4
Nav1.4
SkM1
sodium voltage-gated channel alpha subunit 4

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000007314

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000007314

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000007314

Sodium voltage-gated channel alpha subunit 4

1 reference

6 July 2017

UniProt protein ID

genetic association

paramyotonia congenita

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000007314/MONDO_0008195

based on heuristic

inferred from an Open Targets association score over 0.7

congenital myasthenic syndrome 16

1 reference

UniProt protein ID

13 August 2019

hypokalemic periodic paralysis

1 reference

Klinická neurologie část speciální

hyperkalemic periodic paralysis

1 reference

Klinická neurologie část speciální

potassium-aggravated myotonia

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000007314/MONDO_0018959

based on heuristic

inferred from an Open Targets association score over 0.7

acetazolamide-responsive myotonia

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000007314/MONDO_0020483

based on heuristic

inferred from an Open Targets association score over 0.7

congenital myasthenic syndrome

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000007314/Orphanet_590

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 17

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000007314

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000007314

63938554

human chromosome 17

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000007314

62015914

human chromosome 17

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000007314

63972918

human chromosome 17

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000007314

62050278

human chromosome 17

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000007314

cytogenetic location

17q23.3

1 reference

15 May 2022

283

1 reference

15 May 2022

Gene Atlas image

PBB GE SCN4A 206981 at fs.png
732 × 530; 12 KB

0 references

1 reference

HomoloGene build68

283

1 reference

HomoloGene build68

283

1 reference

HomoloGene build68

283

gastrocnemius muscle

1

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000007314

vastus lateralis muscle

2

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000007314

thoracic diaphragm

3

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000007314

triceps brachii muscle

4

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000007314

5

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000007314

tibialis anterior muscle

6

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000007314

subcutaneous adipose tissue

7

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000007314

8

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000007314

right lobe of thyroid gland

9

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000007314

left lobe of thyroid gland

10

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000007314

http://identifiers.org/ncbigene/6329

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000007314

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000007314

Ensembl transcript ID

ENST00000584310

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000007314

ENST00000435607

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000007314

ENST00000581514

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000007314

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(5 entries)

bswiki SCN4A
enwiki Nav1.4
fawiki Nav1.4
frwiki SCN4A
ukwiki SCN4A

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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