SCN7A (sodium voltage-gated channel alpha subunit 7)

2014-11-01  

Identity

HGNC
LOCATION
2q24.3
LOCUSID
ALIAS
NaG,Nav2.1,Nav2.2,SCN6A

Other Information

Locus ID:

NCBI: 6332
MIM: 182392
HGNC: 10594
Ensembl: ENSG00000136546

Variants:

dbSNP: 6332
ClinVar: 6332
TCGA: ENSG00000136546
COSMIC: SCN7A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136546ENST00000419992C9JW43
ENSG00000136546ENST00000424326F8WD82
ENSG00000136546ENST00000441411Q01118
ENSG00000136546ENST00000619410Q01118
ENSG00000136546ENST00000621965Q01118
ENSG00000136546ENST00000643258Q01118
ENSG00000136546ENST00000650747A0A494C195

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
173395382007Genetic variations associated with echocardiographic left ventricular traits in hypertensive blacks.10
265372572015Sodium channel Nax is a regulator in epithelial sodium homeostasis.9
253935652015The association between the polymorphisms in a sodium channel gene SCN7A and essential hypertension: a case-control study in the Northern Han Chinese.2
146692102003[Association of single nucleotide polymorphism in human SCN7A gene with essential hypertension in Chinese].1

Citation

Dessen P

SCN7A (sodium voltage-gated channel alpha subunit 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73050/scn7a