SCN7A (sodium voltage-gated channel alpha subunit 7)

2014-11-01  

Identity

HGNC
SCN7A
LOCATION
2q24.3
LOCUSID
6332
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
349936722022Genomic analyses reveal SCN7A is associated with the prognosis of esophageal squamous cell carcinoma.1
351234172022Identification of SCN7A as the key gene associated with tumor mutation burden in gastric cancer.4
349936722022Genomic analyses reveal SCN7A is associated with the prognosis of esophageal squamous cell carcinoma.1
351234172022Identification of SCN7A as the key gene associated with tumor mutation burden in gastric cancer.4
253935652015The association between the polymorphisms in a sodium channel gene SCN7A and essential hypertension: a case-control study in the Northern Han Chinese.4
265372572015Sodium channel Nax is a regulator in epithelial sodium homeostasis.25
253935652015The association between the polymorphisms in a sodium channel gene SCN7A and essential hypertension: a case-control study in the Northern Han Chinese.4
265372572015Sodium channel Nax is a regulator in epithelial sodium homeostasis.25
173395382007Genetic variations associated with echocardiographic left ventricular traits in hypertensive blacks.12
173395382007Genetic variations associated with echocardiographic left ventricular traits in hypertensive blacks.12
146692102003[Association of single nucleotide polymorphism in human SCN7A gene with essential hypertension in Chinese].2
146692102003[Association of single nucleotide polymorphism in human SCN7A gene with essential hypertension in Chinese].2

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-(sodium-voltage-gated-channel-alpha-subunit-7)