SCN2B (sodium voltage-gated channel beta subunit 2)

2015-02-01  

Identity

HGNC
LOCATION
11q23.3
LOCUSID
ALIAS
ATFB14
FUSION GENES

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

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
343208502021A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy.5
343208502021A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy.5
307656062019Structures of human Na(v)1.7 channel in complex with auxiliary subunits and animal toxins.197
307656062019Structures of human Na(v)1.7 channel in complex with auxiliary subunits and animal toxins.197
285979872017Trafficking and localisation to the plasma membrane of Na(v) 1.5 promoted by the β2 subunit is defective due to a β2 mutation associated with Brugada syndrome.10
285979872017Trafficking and localisation to the plasma membrane of Na(v) 1.5 promoted by the β2 subunit is defective due to a β2 mutation associated with Brugada syndrome.10
268949592016Binary architecture of the Nav1.2-β2 signaling complex.25
268949592016Binary architecture of the Nav1.2-β2 signaling complex.25
257576622015The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.13
261798112015Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.4
257576622015The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.13
261798112015Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.4
243376562014Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.16
248926582014Identification of beta-2 as a key cell adhesion molecule in PCa cell neurotropic behavior: a novel ex vivo and biophysical approach.12
243376562014Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.16

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-(sodium-voltage-gated-channel-beta-subunit-2)