SCN3A (sodium voltage-gated channel alpha subunit 3)

2014-11-01  

Identity

HGNC
LOCATION
2q24.3
LOCUSID
ALIAS
DEE62,EIEE62,FFEVF4,NAC3,Nav1.3
FUSION GENES

Other Information

Locus ID:

NCBI: 6328
MIM: 182391
HGNC: 10590
Ensembl: ENSG00000153253

Variants:

dbSNP: 6328
ClinVar: 6328
TCGA: ENSG00000153253
COSMIC: SCN3A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153253ENST00000283254Q9NY46
ENSG00000153253ENST00000360093Q9NY46
ENSG00000153253ENST00000409101Q9NY46
ENSG00000153253ENST00000440431E7EUE6
ENSG00000153253ENST00000453007C9JBM7
ENSG00000153253ENST00000638473A0A1W2PQ58
ENSG00000153253ENST00000639244A0A1W2PRD1
ENSG00000153253ENST00000640652A0A1W2PSB2
ENSG00000153253ENST00000658209A0A590UJW3
ENSG00000153253ENST00000668657A0A590UJH3

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Taste transductionKEGGko04742
Taste transductionKEGGhsa04742
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
379350512024Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy.0
385680552024Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.0
379350512024Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy.0
385680552024Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.0
358018102022Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.1
358018102022Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.1
338953912021Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+).3
338953912021Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+).3
325150172020SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.21
325150172020SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.21
309937662019Long noncoding RNA HOXA-AS2 regulates the expression of SCN3A by sponging miR-106a in breast cancer.22
309937662019Long noncoding RNA HOXA-AS2 regulates the expression of SCN3A by sponging miR-106a in breast cancer.22
294668372018Mutations in SCN3A cause early infantile epileptic encephalopathy.36
295780032018Abnormal changes in voltage-gated sodium channels subtypes Na(V)1.1, Na(V)1.2, Na(V)1.3, Na(V)1.6 and CaM/CaMKII pathway in low-grade astrocytoma.4
301463012018Sodium Channel SCN3A (Na(V)1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.59

Citation

Dessen P

SCN3A (sodium voltage-gated channel alpha subunit 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73048/case-report-explorer/favicon/apple-touch-icon.png