Gene Facts External Data Attribution

HGNC Symbol
SCN8A (HGNC:10596) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
sodium voltage-gated channel alpha subunit 8
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MED
Alias symbols
Nav1.6, NaCh6, PN4, CerIII, CIAT
%HI
5.53(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.13(Read more about gnomAD LOEUF score)
Cytoband
12q13.13
Genomic Coordinates
GRCh37/hg19: chr12:51985017-52206648 NCBI Ensembl UCSC
GRCh38/hg38: chr12:51591233-51812864 NCBI Ensembl UCSC
MANE Select Transcript
NM_001330260.2 ENST00000627620.5 (Read more about MANE Select)
MANE Plus Clinical Transcript(s)
NM_014191.4 ENST00000354534.11 (Read more about MANE Plus Clinical)
Function
Mediates the voltage-dependent sodium ion permeability of excitable membranes (PubMed:29726066). Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. {ECO:0000269|PubMed:19136557, ECO:0000269|PubMed:29726066, ECO:0000269|PubMed:33245860, ECO:0000269|PubMed:36696443, ECO:0000269|PubMed:36823201}. [Isoform 5]: In macrophages... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33566
Curation Status:
Reopened
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Assoc. with Reduced Penetrance:
Reopened
Last Evaluated:
Reopened

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)