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Scn2a Gene Detail
Summary
  • Symbol
    Scn2a
  • Name
    sodium channel, voltage-gated, type II, alpha
  • Synonyms
    A230052E19Rik, Nav1.2, Scn2a1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98248
    NCBI Gene: 110876
  • Gene Overview
    MyGene.info: SCN2A
  • Alliance
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
  • Genetic Map
    Chromosome 2, 38.61 cM
  • Mapping Data
    11 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    SCN2A, sodium voltage-gated channel alpha subunit 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SCN2A, sodium voltage-gated channel alpha subunit 2
    Orthology source: HomoloGene, HGNC
  • 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
    UniProt: Q99250

  • Chr Location
    2q24.3; chr2:165208056-165392310 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    7 phenotypes from multigenic genotypes
    18 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • 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
    less
    • SNPs within 2kb
      990 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    • 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 domain superfamily
      IPR024583 Voltage-gated Na+ ion channel, cytoplasmic domain
      IPR028325 Voltage-gated potassium channel
      IPR001696 Voltage gated sodium channel, alpha subunit
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 11
      Primer pair 7

      Microarray probesets 18
    Other
    Accession IDs
    less
    MGD-MRK-14321, MGI:2444703
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 6
      Diseases 2
      Gene Ontology 8
      Phenotypes 18
    • 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:254730 Gonzalez-Cabrera C, et al., Characterization of the axon initial segment of mice substantia nigra dopaminergic neurons. J Comp Neurol. 2017 Nov 1;525(16):3529-3542

    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
    07/31/2018
    MGI 6.12
    The Jackson Laboratory