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Atp1a2 Gene Detail
Summary
  • Symbol
    Atp1a2
  • Name
    ATPase, Na+/K+ transporting, alpha 2 polypeptide
  • Synonyms
    Atpa-3, mKIAA0778
  • Feature Type
    protein coding gene
  • IDs
    MGI:88106
    NCBI Gene: 98660
  • Gene Overview
    MyGene.info: ATP1A2
Location & Maps
more
  • Sequence Map
    Chr1:172271709-172298064 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      26356 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 79.60 cM
  • Mapping Data
    20 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    ATP1A2, ATPase Na+/K+ transporting subunit alpha 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATP1A2, ATPase Na+/K+ transporting subunit alpha 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FHM2, MHP2
  • Links
    NCBI Gene ID: 477
    neXtProt AC: NX_P50993

  • Chr Location
    1q23.2; chr1:160115730-160143591 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human ATP1A2 associations

Human Disease Mouse Models
       Alternating Hemiplegia of Childhood 1; AHC1   OMIM: 104290
Migraine, Familial Hemiplegic, 2; FHM2   OMIM: 602481
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 5 alleles in 7 genetic backgrounds
    1 phenotype from multigenic genotypes
    37 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
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
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (other)
    2
  • Gene trapped
    2
  • Targeted
    7
  • Genomic Mutations
    2 involving Atp1a2
  • Incidental Mutations
Homozygous mutants die immediately after birth from breathing failure, lack spontaneous respiratory rhythm activity, have elevated levels of extracellular GABA in the brain, and have abnormal chloride homeostasis in brainstem neurons.
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 OTTMUSG00000021834 VEGA Gene Model | MGI Sequence Detail 26356 C57BL/6J ±  kb
transcript OTTMUST00000051816 VEGA | MGI Sequence Detail 6227 Not Applicable  
polypeptide OTTMUSP00000024452 VEGA | MGI Sequence Detail 1020 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    426 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 53
    Genomic 28
    cDNA 21
    Primer pair 4

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-1458, MGD-MRK-1472, MGI:2138555
References
more
  • Summaries
    All 100
    Developmental Gene Expression 22
    Gene Ontology 18
    Phenotypes 37
  • Earliest
    J:7397 Levenson R, et al., Molecular cloning of the mouse ouabain-resistance gene. Proc Natl Acad Sci U S A. 1984 Mar;81(5):1489-93
  • Latest
    J:229890 Ang SY, et al., KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation. Development. 2016 Mar 1;143(5):810-21

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory