Gene Gene information from NCBI Gene database.
Entrez ID 6330
Gene name Sodium voltage-gated channel beta subunit 4
Gene symbol SCN4B
Synonyms (NCBI Gene)
ATFB17LQT10Navbeta4
Chromosome 11
Chromosome location 11q23.3
Summary The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. De
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs112363898 T>A Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, intron variant
rs121434386 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs149868494 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, genic upstream transcript variant, coding sequence variant
rs587777559 A>C Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs587777560 T>G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
160
miRTarBase ID miRNA Experiments Reference
MIRT023310 hsa-miR-122-5p Microarray 17612493
MIRT1330109 hsa-let-7a CLIP-seq
MIRT1330110 hsa-let-7b CLIP-seq
MIRT1330111 hsa-let-7c CLIP-seq
MIRT1330112 hsa-let-7d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0001518 Component Voltage-gated sodium channel complex IBA
GO:0001518 Component Voltage-gated sodium channel complex IDA 12930796, 17592081
GO:0001518 Component Voltage-gated sodium channel complex IMP 24297919
GO:0005248 Function Voltage-gated sodium channel activity IDA 12930796
GO:0005248 Function Voltage-gated sodium channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608256 10592 ENSG00000177098
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWT1
Protein name Sodium channel regulatory subunit beta-4
Protein function Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by swi
PDB 4MZ2 , 4MZ3 , 5XAW , 6VSV , 7DTD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 37 151 Immunoglobulin V-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at a high level in dorsal root ganglia, at a lower level in brain, spinal cord, skeletal muscle and heart. Expressed in the atrium. {ECO:0000269|PubMed:12930796, ECO:0000269|PubMed:21051419}.
Sequence
MPGAGDGGKAPARWLGTGLLGLFLLPVTLSLEVSVGKATDIYAVNGTEILLPCTFSSCFG
FEDLHFRWTYNSSDAFKILIEGTVKNEKSDPKVTLKDDDRITLVGSTKEKMNNISIVLRD
LEFSDTGKYTCHVKNPKENNLQHHATIFLQV
VDRLEEVDNTVTLIILAVVGGVIGLLILI
LLIKKLIIFILKKTREKKKECLVSSSGNDNTENGLPGSKAEEKPPSKV
Sequence length 228
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Atrial fibrillation, familial, 17 Pathogenic rs587777559, rs587777560 RCV000128816
RCV000128817
★★★★☆
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
CARDIOMYOPATHY, DILATED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Catecholaminergic polymorphic ventricular tachycardia 1 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital long QT syndrome Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
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, 21051419, 23604097, 30821358
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 30821358 Associate
★☆☆☆☆
Found in Text Mining only
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) Atrial Fibrillation ORPHANET_DG 23604097
★☆☆☆☆
Found in Text Mining only
Atrioventricular Block Atrioventricular block HPO_DG
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 26554713 Associate
★☆☆☆☆
Found in Text Mining only
Borderline Personality Disorder Borderline personality disorder BEFREE 26554713
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27917859
★☆☆☆☆
Found in Text Mining only
Bronchopulmonary Dysplasia Bronchopulmonary Dysplasia BEFREE 26554713
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome Brugada syndrome Pubtator 31627867 Associate
★☆☆☆☆
Found in Text Mining only
Brugada Syndrome (disorder) Brugada Syndrome BEFREE 26179811
★☆☆☆☆
Found in Text Mining only