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SCN4B (sodium voltage-gated channel beta subunit 4)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6330
Gene nameGene Name - the full gene name approved by the HGNC.
Sodium voltage-gated channel beta subunit 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SCN4B
SynonymsGene synonyms aliases
ATFB17, LQT10, Navbeta4
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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 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 12930796, 17592081
GO:0001518 Component Voltage-gated sodium channel complex IMP 24297919
GO:0005244 Function Voltage-gated ion channel activity IEA
GO:0005248 Function Voltage-gated sodium channel activity IDA 12930796
GO:0005515 Function Protein binding IPI 32296183
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
MPGAGDGGKAPARWLGTGLLGLFLLPVTLSLEVSVGKATDIYAVNGTEILLPCTFSSCFG
FEDLHFRWTYNSSDAFKILIEGTVKNEKSDPKVTLKDDDRITLVGSTKEKMNNISIVLRD
LEFSDTGKYTCHVKNPKENNLQHHATIFLQV
VDRLEEVDNTVTLIILAVVGGVIGLLILI
LLIKKLIIFILKKTREKKKECLVSSSGNDNTENGLPGSKAEEKPPSKV
Sequence length 228
Interactions View interactions

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