Gene Gene information from NCBI Gene database.
Entrez ID 6327
Gene name Sodium voltage-gated channel beta subunit 2
Gene symbol SCN2B
Synonyms (NCBI Gene)
ATFB14
Chromosome 11
Chromosome location 11q23.3
Summary 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.
2
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.
491
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0001518 Component Voltage-gated sodium channel complex IBA
GO:0001518 Component Voltage-gated sodium channel complex IDA 19808477, 35277491, 36823201
GO:0001518 Component Voltage-gated sodium channel complex TAS 9295116
GO:0005248 Function Voltage-gated sodium channel activity IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601327 10589 ENSG00000149575
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION, FAMILIAL 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 10 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 11 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 12 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atrial Fibrillation Atrial Fibrillation BEFREE 19808477, 20558140, 23604097, 30821358
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 20558140, 30821358, 34332113 Associate
★☆☆☆☆
Found in Text Mining only
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) Atrial Fibrillation ORPHANET_DG 19808477
★☆☆☆☆
Found in Text Mining only
ATRIAL FIBRILLATION, FAMILIAL, 14 Atrial Fibrillation UNIPROT_DG 19808477
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ATRIAL FIBRILLATION, FAMILIAL, 14 Atrial Fibrillation CTD_human_DG
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ATRIAL FIBRILLATION, FAMILIAL, 14 Atrial Fibrillation CLINVAR_DG
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome Brugada Syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brugada Syndrome Brugada syndrome Pubtator 26173111 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brugada Syndrome (disorder) Brugada Syndrome CLINGEN_DG 19808477, 23559163, 26173111, 26179811, 27932425
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome (disorder) Brugada Syndrome BEFREE 23559163
★☆☆☆☆
Found in Text Mining only