SCN3B (sodium voltage-gated channel beta subunit 3)

2007-02-01  

Identity

HGNC
SCN3B
LOCATION
11q24.1
LOCUSID
55800
ALIAS
ATFB16,BRGDA7,HSA243396,SCNB3

Other Information

Locus ID:

NCBI: 55800
MIM: 608214
HGNC: 20665
Ensembl: ENSG00000166257

Variants:

dbSNP: 55800
ClinVar: 55800
TCGA: ENSG00000166257
COSMIC: SCN3B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166257ENST00000299333Q9NY72
ENSG00000166257ENST00000299333A0A024R3H7
ENSG00000166257ENST00000392770Q9NY72
ENSG00000166257ENST00000392770A0A024R3H7
ENSG00000166257ENST00000530277Q9NY72
ENSG00000166257ENST00000530277A0A024R3H7
ENSG00000166257ENST00000657123Q9NY72
ENSG00000166257ENST00000657123A0A024R3H7
ENSG00000166257ENST00000657191Q9NY72
ENSG00000166257ENST00000657191A0A024R3H7
ENSG00000166257ENST00000659826A0A590UJQ5
ENSG00000166257ENST00000667790A0A590UJ13

Expression (GTEx)

0
10
20
30
40
50
60
70
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
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

References

Pubmed IDYearTitleCitations
198084772009Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.70
210514192011Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation.39
210514192011Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation.39
202268942010Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.36
202268942010Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.36
205581402010Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.32
205581402010Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.32
153340532004Identification of SCN3B as a novel p53-inducible proapoptotic gene.30
232573892013Novel SCN3B mutation associated with brugada syndrome affects intracellular trafficking and function of Nav1.5.28
200424272010Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation.27

Citation

Dessen P

SCN3B (sodium voltage-gated channel beta subunit 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45847/scn3b