SCN2B (sodium voltage-gated channel beta subunit 2)

2015-02-01  

Identity

HGNC
SCN2B
LOCATION
11q23.3
LOCUSID
6327
ALIAS
ATFB14
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6327
MIM: 601327
HGNC: 10589
Ensembl: ENSG00000149575

Variants:

dbSNP: 6327
ClinVar: 6327
TCGA: ENSG00000149575
COSMIC: SCN2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149575ENST00000278947O60939
ENSG00000149575ENST00000278947Q5U0K8
ENSG00000149575ENST00000658882A0A590UJS3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
158337462005Presenilin/gamma-secretase-mediated cleavage of the voltage-gated sodium channel beta2-subunit regulates cell adhesion and migration.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
307656062019Structures of human Na<sub>v</sub>1.7 channel in complex with auxiliary subunits and animal toxins.40
202268942010Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.36
235591632013A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.34
268949592016Binary architecture of the Nav1.2-β2 signaling complex.13
243376562014Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.11
248926582014Identification of beta-2 as a key cell adhesion molecule in PCa cell neurotropic behavior: a novel ex vivo and biophysical approach.9
285979872017Trafficking and localisation to the plasma membrane of Na<sub>v</sub> 1.5 promoted by the β2 subunit is defective due to a β2 mutation associated with Brugada syndrome.6

Citation

Dessen P

SCN2B (sodium voltage-gated channel beta subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55024/scn2b