SCN1B (sodium voltage-gated channel beta subunit 1)

2015-02-01 Affiliation

Identity

HGNC

SCN1B

LOCATION

19q13.11

LOCUSID

6324

ALIAS

ATFB13,BRGDA5,DEE52,EIEE52,GEFSP1

FUSION GENES

Show Gene Fusions

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: 6324
MIM: 600235
HGNC: 10586
Ensembl: ENSG00000105711

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000105711	ENST00000262631	Q07699
ENSG00000105711	ENST00000415950	Q07699
ENSG00000105711	ENST00000595652	B4DI92
ENSG00000105711	ENST00000596348	A0A1W2PR05
ENSG00000105711	ENST00000638536	Q07699
ENSG00000105711	ENST00000640135	A0A1W2PS68

Expression (GTEx)

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

Pathway	Source	External ID
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
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

References

Pubmed ID	Year	Title	Citations
18464934	2008	Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.	125
19710327	2009	A functional null mutation of SCN1B in a patient with Dravet syndrome.	77
19808477	2009	Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.	70
19808477	2009	Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.	70
12486163	2002	Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1.	49
14504340	2003	A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.	42
22155597	2012	A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents.	42
30765606	2019	Structures of human Na<sub>v</sub>1.7 channel in complex with auxiliary subunits and animal toxins.	40
21994374	2011	Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy.	38
20226894	2010	Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.	36

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/scn1b