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Scn2a1 Gene Detail
Summary
  • Symbol
    Scn2a1
  • Name
    sodium channel, voltage-gated, type II, alpha 1
  • Synonyms
    A230052E19Rik, Nav1.2
  • Feature Type
    protein coding gene
  • IDs
    MGI:98248
    NCBI Gene: 110876
Location & Maps
more
  • Sequence Map
    Chr2:65620771-65767447 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      146677 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SCN2A, sodium channel, voltage gated, type II alpha subunit
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SCN2A, sodium channel, voltage gated, type II alpha subunit
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2
  • Links
    NCBI Gene ID: 6326
    neXtProt AC: NX_Q99250

  • Chr Location
    2q24.3; chr2:165130149-165392310 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 75001
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: SCN2A
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Scn2a1 mouse models; 2 with human SCN2A associations

Human Disease Mouse Models
       Generalized Epilepsy with Febrile Seizures Plus, Type 1; GEFSP1   OMIM: 604233 View 2 models
       Epileptic Encephalopathy, Early Infantile, 11; EIEE11   OMIM: 613721
Seizures, Benign Familial Infantile, 3; BFIS3   OMIM: 607745
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 2 alleles in 2 genetic backgrounds
    7 phenotypes from multigenic genotypes
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    2
  • Transgenic
    2
  • Genomic Mutations
    1 involving Scn2a1
  • Incidental Mutations
Homozygotes for a targeted mutation exhibit excess neuronal apoptosis (especially in the brainstem), reduced neuronal sodium channel currents in vitro, and severe hypoxia resulting in neonatal lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012963 VEGA Gene Model | MGI Sequence Detail 146677 C57BL/6J ±  kb
transcript OTTMUST00000031206 VEGA | MGI Sequence Detail 8935 Not Applicable  
polypeptide OTTMUSP00000013961 VEGA | MGI Sequence Detail 2006 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1001 from dbSNP Build 137
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    12 Sequences
  • InterPro Domains
    IPR005821 Ion transport domain
    IPR000048 IQ motif, EF-hand binding site
    IPR010526 Sodium ion transport-associated
    IPR027359 Voltage-dependent channel, four helix bundle domain
    IPR024583 Voltage-gated Na+ ion channel, cytoplasmic domain
    IPR028325 Voltage-gated potassium channel
    IPR001696 Voltage gated sodium channel, alpha subunit
Molecular
Reagents
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  • All nucleic 17
    cDNA 10
    Primer pair 7

    Microarray probesets 18
Other
Accession IDs
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MGD-MRK-14321, MGI:2444703
References
more
  • Summaries
    All 42
    Developmental Gene Expression 5
    Diseases 3
    Gene Ontology 7
    Phenotypes 14
  • Earliest
    J:10031 Litt M, et al., Localization of a human brain sodium channel gene (SCN2A) to chromosome 2. Genomics. 1989 Aug;5(2):204-8
  • Latest
    J:210871 Tsunozaki M, et al., A 'toothache tree' alkylamide inhibits Adelta mechanonociceptors to alleviate mechanical pain. J Physiol. 2013 Jul 1;591(Pt 13):3325-40

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory