SCN10A (sodium voltage-gated channel alpha subunit 10)

2014-11-01 Affiliation

Identity

HGNC

SCN10A

LOCATION

3p22.2

LOCUSID

6336

ALIAS

FEPS2,Nav1.8,PN3,SNS

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6336
MIM: 604427
HGNC: 10582
Ensembl: ENSG00000185313

Variants:

dbSNP: 6336
ClinVar: 6336
TCGA: ENSG00000185313
COSMIC: SCN10A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000185313	ENST00000449082	Q9Y5Y9
ENSG00000185313	ENST00000643108	A0A2R8Y7H0
ENSG00000185313	ENST00000643924	A0A2R8Y6J6
ENSG00000185313	ENST00000644826	Q9Y5Y9
ENSG00000185313	ENST00000655275	A0A590UJM0

Expression (GTEx)

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

Pathway	Source	External ID
Muscle contraction	REACTOME	R-HSA-397014
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
L1CAM interactions	REACTOME	R-HSA-373760
Interaction between L1 and Ankyrins	REACTOME	R-HSA-445095
Cardiac conduction	REACTOME	R-HSA-5576891
Phase 0 - rapid depolarisation	REACTOME	R-HSA-5576892

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA150481189	taxanes	Chemical	ClinicalAnnotation	associated	PD	26194361
PA159018367	Brugada syndrome	Disease	MultilinkAnnotation	not associated		25691538
PA445204	Ovarian Neoplasms	Disease	ClinicalAnnotation	associated	PD	26194361
PA448803	carboplatin	Chemical	ClinicalAnnotation	associated	PD	26194361

References

Pubmed ID	Year	Title	Citations
20062060	2010	Genome-wide association study of PR interval.	185
20062063	2010	Several common variants modulate heart rate, PR interval and QRS duration.	159
21076409	2010	Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.	144
23872634	2013	Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.	125
20062061	2010	Genetic variation in SCN10A influences cardiac conduction.	107
20062061	2010	Genetic variation in SCN10A influences cardiac conduction.	107
23115331	2012	Gain-of-function Nav1.8 mutations in painful neuropathy.	96
21041692	2010	Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.	88
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
24642470	2014	A common genetic variant within SCN10A modulates cardiac SCN5A expression.	56

Citation

Dessen P

SCN10A (sodium voltage-gated channel alpha subunit 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73043/scn10a