Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6327
Gene name Gene Name - the full gene name approved by the HGNC.
Sodium voltage-gated channel beta subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SCN2B
Synonyms (NCBI Gene) Gene synonyms aliases
ATFB14
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ATFB14
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs17121819 G>A Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs72544145 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT699822 hsa-miR-186-3p HITS-CLIP 23313552
MIRT699821 hsa-miR-4722-3p HITS-CLIP 23313552
MIRT699820 hsa-miR-6727-3p HITS-CLIP 23313552
MIRT699819 hsa-miR-6747-3p HITS-CLIP 23313552
MIRT699818 hsa-miR-150-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001518 Component Voltage-gated sodium channel complex IDA 19808477
GO:0001518 Component Voltage-gated sodium channel complex TAS 9295116
GO:0005244 Function Voltage-gated ion channel activity IEA
GO:0007268 Process Chemical synaptic transmission TAS 9295116
GO:0007399 Process Nervous system development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601327 10589 ENSG00000149575
Protein
UniProt ID O60939
Protein name Sodium channel regulatory subunit beta-2
Protein function Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes (PubMed:19808477, PubMed:23559163, PubMed:26894959, PubMed:30765605, PubMed:30765606, PubMed:35277491, PubMed:3682320
PDB 5FDY , 5FEB , 6J8E , 6J8G , 6J8H , 6J8I , 6J8J , 6VRR , 7W77 , 7W7F , 7W9K , 7W9L , 7W9M , 7W9P , 7W9T , 7XM9 , 7XMF , 7XMG , 7XVE , 7XVF , 8G1A , 8GZ1 , 8GZ2 , 8I5B , 8I5G , 8I5X , 8I5Y , 8S9B , 8S9C , 8THG , 8THH , 8XMN , 8XMO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 33 147 Immunoglobulin V-set domain Domain
Sequence
MHRDAWLPRPAFSLTGLSLFFSLVPPGRSMEVTVPATLNVLNGSDARLPCTFNSCYTVNH
KQFSLNWTYQECNNCSEEMFLQFRMKIINLKLERFQDRVEFSGNPSKYDVSVMLRNVQPE
DEGIYNCYIMNPPDRHRGHGKIHLQVL
MEEPPERDSTVAVIVGASVGGFLAVVILVLMVV
KCVRRKKEQKLSTDDLKTEEEGKTDGEGNPDDGAK
Sequence length 215
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Phase 0 - rapid depolarisation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder), ATRIAL FIBRILLATION, FAMILIAL, 14, Familial atrial fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
19808477
Atrioventricular block First degree atrioventricular block rs766840243, rs763809932
Brugada syndrome Brugada Syndrome (disorder), Brugada Syndrome 1, Brugada syndrome rs104894718, rs397514252, rs397514446, rs137854613, rs137854601, rs397514449, rs137854604, rs28937318, rs137854611, rs137854612, rs137854615, rs137854618, rs137854620, rs72554632, rs121912776
View all (97 more)
23559163, 26179811, 27932425, 26173111, 19808477
Sick sinus syndrome Sick Sinus Syndrome rs104894488, rs1057519015, rs121908411, rs869025519, rs1057519274, rs794727637, rs1057519275, rs1057519276
Unknown
Disease term Disease name Evidence References Source
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation ClinVar
Atrial Fibrillation familial atrial fibrillation, atrial fibrillation, familial, 14 GenCC
Brugada Syndrome Brugada syndrome 1 GenCC
Preeclampsia Preeclampsia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Atrial Fibrillation Associate 20558140, 30821358, 34332113
Brugada Syndrome Associate 26173111
Cardiomyopathy Dilated Associate 24339868
Cognitive Dysfunction Associate 36406589
Encephalitis Viral Associate 37891420
Inflammation Associate 37891420