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Atp8a2 Gene Detail
Summary
  • Symbol
    Atp8a2
  • Name
    ATPase, aminophospholipid transporter-like, class I, type 8A, member 2
  • Synonyms
    agil, Ib, wl
  • Feature Type
    protein coding gene
  • IDs
    MGI:1354710
    NCBI Gene: 50769
Location & Maps
more
  • Sequence Map
    Chr14:59647531-60197179 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      549649 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 31.49 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    ATP8A2, ATPase phospholipid transporting 8A2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATP8A2, ATPase phospholipid transporting 8A2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATP, ATPIB, CAMRQ4, IB, ML-1
  • Links
    NCBI Gene ID: 51761
    neXtProt AC: NX_Q9NTI2

  • Chr Location
    13q12; chr13:25372011-26025851 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 4443
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: ATP8A2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Atp8a2 mouse models; 1 with human ATP8A2 associations

Human Disease Mouse Models
       Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4; CAMRQ4   OMIM: 615268 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    51 phenotypes from 8 alleles in 10 genetic backgrounds
    2 images
    23 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)
    1
  • Gene trapped
    2
  • Spontaneous
    7
  • Targeted
    1
  • Genomic Mutations
    1 involving Atp8a2
  • Incidental Mutations
Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching.
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 OTTMUSG00000032689 VEGA Gene Model | MGI Sequence Detail 549649 C57BL/6J ±  kb
transcript OTTMUST00000081340 VEGA | MGI Sequence Detail 3895 Not Applicable  
polypeptide OTTMUSP00000043499 VEGA | MGI Sequence Detail 1148 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    3202 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 16
    cDNA 16

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-15403, MGD-MRK-15435, MGI:2145631, MGI:2667527, MGI:98951
References
more
  • Summaries
    All 54
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 9
    Phenotypes 23
  • Earliest
    J:13068 Dickie MM, et al., A juvenile wabbler-lethal in the house mouse. J Hered. 1952;43:283-286
  • Latest
    J:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57

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
09/20/2016
MGI 6.05
The Jackson Laboratory