Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6330 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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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 |
rs777894412 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence |
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Sequence length |
228 |
Interactions |
View interactions |