SCN1B (sodium voltage-gated channel beta subunit 1)

2015-02-01  

Identity

HGNC
SCN1B
LOCATION
19q13.11
LOCUSID
6324
ALIAS
ATFB13,BRGDA5,DEE52,EIEE52,GEFSP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6324
MIM: 600235
HGNC: 10586
Ensembl: ENSG00000105711

Variants:

dbSNP: 6324
ClinVar: 6324
TCGA: ENSG00000105711
COSMIC: SCN1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105711ENST00000262631Q07699
ENSG00000105711ENST00000415950Q07699
ENSG00000105711ENST00000595652B4DI92
ENSG00000105711ENST00000596348A0A1W2PR05
ENSG00000105711ENST00000638536Q07699
ENSG00000105711ENST00000640135A0A1W2PS68

Expression (GTEx)

0
50
100
150
200
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

References

Pubmed IDYearTitleCitations
381390872023Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study.1
381390872023Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study.1
356037852022Neonatal Scn1b-null mice have sinoatrial node dysfunction, altered atrial structure, and atrial fibrillation.3
358018102022Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.1
356037852022Neonatal Scn1b-null mice have sinoatrial node dysfunction, altered atrial structure, and atrial fibrillation.3
358018102022Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.1
339013122021Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.7
339013122021Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.7
325038412020Sodium channel β1 subunits are post-translationally modified by tyrosine phosphorylation, S-palmitoylation, and regulated intramembrane proteolysis.7
325038412020Sodium channel β1 subunits are post-translationally modified by tyrosine phosphorylation, S-palmitoylation, and regulated intramembrane proteolysis.7
303868992019Abnormal Scn1b and Fxyd1 gene expression in the pulled-through ganglionic colon may influence functional outcome in patients with Hirschsprung's disease.2
307656062019Structures of human Na(v)1.7 channel in complex with auxiliary subunits and animal toxins.197
317297022019Clinical and genetic aspect of 30 tunisian families with febrile seizures.0
303868992019Abnormal Scn1b and Fxyd1 gene expression in the pulled-through ganglionic colon may influence functional outcome in patients with Hirschsprung's disease.2
307656062019Structures of human Na(v)1.7 channel in complex with auxiliary subunits and animal toxins.197

Citation

Dessen P

SCN1B (sodium voltage-gated channel beta subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/54992/gene-fusions-explorer/teaching-explorer/js/_common.js