SCN8A
protein-coding gene in the species Homo sapiens
Facts
13 properties- Instance of
- gene
- Subclass of
- protein-coding gene[2]
- Chromosome
- human chromosome 12[15]
- Cytogenetic location
- 12q13.13[21]
- Encodes
- Sodium voltage-gated channel alpha subunit 8, Sodium channel protein type 8 subunit alpha[12][13]
- Expressed in
- Brodmann area 23, middle temporal gyrus, postcentral gyrus, primary visual cortex, superior frontal gyrus, endothelial cell, entorhinal cortex, lateral nuclear group of thalamus, buccal mucosa cell, right hemisphere of cerebellum[22][23][24][25][26][27][28][29][30][31]
- Found in taxon
- Homo sapiens[14]
- Genetic association
- Ohtahara syndrome, undetermined early-onset epileptic encephalopathy, epilepsy, cognitive impairment with or without cerebellar ataxia[16][17][18][19]
- HomoloGene ID
- 7927[3]
- Strand orientation
- forward strand[20]
🏷️ Also known as
en BFIS5
en CERIII
en CIAT
en DEE13
en EIEE13
en MED
en MYOCL2
en NaCh6
en Nav1.6
en PN4
en SCN8A
en sodium voltage-gated channel alpha subunit 8
🔖 Identifiers · 12
- Image (Wikimedia Commons)
- Protein SCN8A PDB 1byy.png ↗
- CIViC gene ID
- 5128
- Ensembl gene ID
- ENSG00000196876
- Ensembl transcript ID
- ENST00000627665, ENST00000354534, ENST00000355133, ENST00000545061, ENST00000546961, ENST00000548086, ENST00000550891, ENST00000551216, ENST00000599343, ENST00000627620, ENST00000636458, ENST00000636945, ENST00000637540, ENST00000637709, ENST00000638820, ENST00000662684, ENST00000667214, ENST00000668547
- Entrez Gene ID
- 6334
- Exact match
- identifiers.org
- Freebase ID
- /m/03hg95d
- HGNC ID
- 10596
- HGNC gene symbol
- SCN8A
- OMIM ID
- 600702
- RefSeq RNA ID
- NM_001177984, NM_014191, NM_175894, NM_001330260, NM_001369788
- UMLS CUI
- C1419866
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Summary
SCN8A is a gene[1].