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SCN4B |
Gene Facts External Data Attribution
- HGNC Symbol
- SCN4B (HGNC:10592) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- sodium voltage-gated channel beta subunit 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- LQT10
- %HI
- 57.36(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.33(Read more about gnomAD LOEUF score)
- Cytoband
- 11q23.3
- Genomic Coordinates
-
GRCh37/hg19: chr11:118004092-118023538 NCBI Ensembl UCSC GRCh38/hg38: chr11:118133377-118152823 NCBI Ensembl UCSC - MANE Select Transcript
- NM_174934.4 ENST00000324727.9 (Read more about MANE Select)
- Function
- Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the susceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone venom. {ECO:0000269|PubMed:24297919}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-29931
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)
