SCN8A |
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)