SCN2A (sodium voltage-gated channel alpha subunit 2)

2016-10-01  

Identity

HGNC
SCN2A
LOCATION
2q24.3
LOCUSID
6326
ALIAS
BFIC3,BFIS3,BFNIS,DEE11,EA9,EIEE11,HBA,HBSCI,HBSCII,NAC2,Na(v)1.2,Nav1.2,SCN2A1,SCN2A2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6326
MIM: 182390
HGNC: 10588
Ensembl: ENSG00000136531

Variants:

dbSNP: 6326
ClinVar: 6326
TCGA: ENSG00000136531
COSMIC: SCN2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136531ENST00000283256Q99250
ENSG00000136531ENST00000375427Q99250
ENSG00000136531ENST00000375437Q99250
ENSG00000136531ENST00000424833F6U291
ENSG00000136531ENST00000486878A0A0D9SGG2
ENSG00000136531ENST00000631182Q99250
ENSG00000136531ENST00000636071Q99250
ENSG00000136531ENST00000636135A0A1B0GTS6
ENSG00000136531ENST00000636384A0A1B0GW40
ENSG00000136531ENST00000636662A0A1B0GTX0
ENSG00000136531ENST00000636769A0A1B0GW67
ENSG00000136531ENST00000636985A0A1B0GWA6
ENSG00000136531ENST00000637266Q99250
ENSG00000136531ENST00000637367A0A1B0GTX0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA143485705antiepilepticsChemicalClinicalAnnotationassociatedPD18784617, 23859570, 25155934
PA444065EpilepsyDiseaseClinicalAnnotationassociatedPD18784617, 23859570, 25155934
PA448785carbamazepineChemicalClinicalAnnotationassociatedPD18784617, 23859570, 25155934
PA450164lamotrigineChemicalClinicalAnnotationassociatedPD18784617, 25155934
PA450732oxcarbazepineChemicalClinicalAnnotationassociatedPD18784617, 25155934
PA450911phenobarbitalChemicalClinicalAnnotationassociatedPD23859570, 25155934
PA450947phenytoinChemicalClinicalAnnotationassociatedPD18784617, 23859570, 25155934
PA451728topiramateChemicalClinicalAnnotationassociatedPD18784617, 25155934
PA451846valproic acidChemicalClinicalAnnotationassociatedPD23859570, 25155934

References

Pubmed IDYearTitleCitations
380977672024Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.1
381481542024Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.0
385646332024Pathogenic gating pore current conducted by autism-related mutations in the Na(V)1.2 brain sodium channel.0
380977672024Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.1
381481542024Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.0
385646332024Pathogenic gating pore current conducted by autism-related mutations in the Na(V)1.2 brain sodium channel.0
364414792023A Push-Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels.1
370101022023Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.3
372712862023Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.1
375787432023Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.4
364414792023A Push-Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels.1
370101022023Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.3
372712862023Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels.1
375787432023Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.4
346075512022Role of SCN2A c.56G/A Gene Polymorphism in Egyptian Children with Genetic Epilepsy with Febrile Seizure Plus.1

Citation

Dessen P

SCN2A (sodium voltage-gated channel alpha subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56568/meetings/teaching-explorer/gene-fusions/?id=56568