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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
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:172099276-172125631 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 79.60 cM
  • Mapping Data
    21 experiments
Strain
Comparison
more
  • SNPs within 2kb
    847 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88106
 protein coding gene Chr1:172099276-172125631 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016784
 protein coding gene Chr1:178130098-178156430 (-)
A/J MGP_AJ_G0016763
 protein coding gene Chr1:170838486-170864747 (-)
AKR/J MGP_AKRJ_G0016729
 protein coding gene Chr1:176001112-176027457 (-)
BALB/cJ MGP_BALBcJ_G0016724
 protein coding gene Chr1:171384369-171410668 (-)
C3H/HeJ MGP_C3HHeJ_G0016548
 protein coding gene Chr1:176573571-176600104 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017186
 protein coding gene Chr1:184041051-184067431 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014892
 protein coding gene Chr1:162541378-162567647 (-)
CAST/EiJ MGP_CASTEiJ_G0016128
 protein coding gene Chr1:175940258-175969817 (-)
CBA/J MGP_CBAJ_G0016522
 protein coding gene Chr1:190590154-190616414 (-)
DBA/2J MGP_DBA2J_G0016629
 protein coding gene Chr1:169774586-169801185 (-)
FVB/NJ MGP_FVBNJ_G0016626
 protein coding gene Chr1:168030295-168056716 (-)
LP/J MGP_LPJ_G0016700
 protein coding gene Chr1:179222194-179248502 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016653
 protein coding gene Chr1:197837489-197863827 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017222
 protein coding gene Chr1:175869357-175896972 (-)
PWK/PhJ MGP_PWKPhJ_G0015914
 protein coding gene Chr1:169150663-169177410 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015696
 protein coding gene Chr1:174819091-174845296 (-)
WSB/EiJ MGP_WSBEiJ_G0016190
 protein coding gene Chr1:176026165-176052515 (-)



Homology
more
  • Human Ortholog
    ATP1A2, ATPase Na+/K+ transporting subunit alpha 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP1A2, ATPase Na+/K+ transporting subunit alpha 2
  • Synonyms
    DEE98, FARIMPD, FHM2, MHP2
  • Links
    NCBI Gene ID: 477
    neXtProt AC: NX_P50993
    UniProt: P50993

  • Chr Location
    1q23.2; chr1:160115759-160143591 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Atp1a2 mouse models; 6 with human ATP1A2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    39 phenotypes from 7 alleles in 10 genetic backgrounds
    1 phenotype from multigenic genotypes
    57 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.
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
less
  • All GO Annotations
    126
  • GO References
    23
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1181
  • Tissues
    213
  • cDNA Data
    16
  • Literature Summary
    34
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 98660 NCBI Gene Model | MGI Sequence Detail 26356 C57BL/6J ±  kb
    transcript NM_178405 RefSeq | MGI Sequence Detail 6227 ZRU/MplStud  
    polypeptide Q6PIE5 UniProt | EBI | MGI Sequence Detail 1020 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000004436 sodium/potassium-transporting ATPase subunit alpha-2
      (term hierarchy)
    • EC
      7.2.2.13
    • InterPro Domains
      IPR050510 Cation transport ATPase (P-type)
      IPR006068 Cation-transporting P-type ATPase, C-terminal
      IPR004014 Cation-transporting P-type ATPase, N-terminal
      IPR036412 HAD-like superfamily
      IPR023214 HAD superfamily
      IPR001757 P-type ATPase
      IPR008250 P-type ATPase, A domain superfamily
      IPR023299 P-type ATPase, cytoplasmic domain N
      IPR044492 P-type ATPase, haloacid dehalogenase domain
      IPR018303 P-type ATPase, phosphorylation site
      IPR005775 P-type ATPase subfamily IIC, subunit alpha
      IPR023298 P-type ATPase, transmembrane domain superfamily
    • GlyGen
      Q6PIE5 10 sites, 5 N-linked glycans (4 sites), 1 O-linked glycan (6 sites)
    Molecular
    Reagents
    less
    • All nucleic 56
      Genomic 28
      cDNA 23
      Primer pair 5

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-1458, MGD-MRK-1472, MGI:2138555
    References
    more
    • Summaries
      All 143
      Developmental Gene Expression 34
      Diseases 2
      Gene Ontology 23
      Phenotypes 57
    • 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:344312 Liu H, et al., Epigenetic repression of Cend1 by lysine-specific demethylase 1 is essential for murine heart development. iScience. 2024 Jan 19;27(1):108722
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory