SCN3A (sodium voltage-gated channel alpha subunit 3)

2014-11-01  

Identity

HGNC
SCN3A
LOCATION
2q24.3
LOCUSID
6328
ALIAS
DEE62,EIEE62,FFEVF4,NAC3,Nav1.3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/gene-fusions/?id=73048