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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
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:59647320-60177987 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 31.49 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3202 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1354710
protein coding gene Chr14:59638540-60197179 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021428
protein coding gene Chr14:53963789-54542427 (-)
A/J MGP_AJ_G0021387
protein coding gene Chr14:52823783-53365441 (-)
AKR/J MGP_AKRJ_G0021362
protein coding gene Chr14:54697302-55258032 (-)
BALB/cJ MGP_BALBcJ_G0021392
protein coding gene Chr14:52785600-53327708 (-)
C3H/HeJ MGP_C3HHeJ_G0021170
protein coding gene Chr14:54357439-54914035 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021831
protein coding gene Chr14:56641164-57222759 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019371
protein coding gene Chr14:50872264-51399508 (-)
CAST/EiJ MGP_CASTEiJ_G0020686
protein coding gene Chr14:50767246-51316592 (-)
CBA/J MGP_CBAJ_G0021137
protein coding gene Chr14:58245261-58850143 (-)
DBA/2J MGP_DBA2J_G0021260
protein coding gene Chr14:52495491-53043454 (-)
FVB/NJ MGP_FVBNJ_G0021238
protein coding gene Chr14:51908066-52449151 (-)
LP/J MGP_LPJ_G0021334
protein coding gene Chr14:54991324-55574186 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021267
protein coding gene Chr14:57648414-58224544 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021854
protein coding gene Chr14:53837752-54402703 (-)
PWK/PhJ MGP_PWKPhJ_G0020430
protein coding gene Chr14:49134461-49692600 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020263
protein coding gene Chr14:49839384-50378423 (-)
WSB/EiJ MGP_WSBEiJ_G0020739
protein coding gene Chr14:54157053-54711250 (-)



Homology
more
  • Human Ortholog
    ATP8A2, ATPase phospholipid transporting 8A2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATP8A2, ATPase phospholipid transporting 8A2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ATP, ATPIB, CAMRQ4, IB, ML-1
  • Links
    NCBI Gene ID: 51761
    neXtProt AC: NX_Q9NTI2
    UniProt: Q9NTI2

  • Chr Location
    13q12.13; chr13:25372011-26025851 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 4443
    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: ATP8A2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Atp8a2 mouse models; 1 with human ATP8A2 associations

Human Disease Mouse Models
      
IDs
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
    24 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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population 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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 50769 NCBI Gene Model | MGI Sequence Detail 530668 C57BL/6J ±  kb
    transcript NM_015803 RefSeq | MGI Sequence Detail 3975 C57BL/6  
    polypeptide P98200 UniProt | EBI | MGI Sequence Detail 1148 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 17

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-15403, MGD-MRK-15435, MGI:2145631, MGI:2667527, MGI:98951
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 10
      Phenotypes 24
    • Earliest
      J:13068 Dickie MM, et al., A juvenile wabbler-lethal in the house mouse. J Hered. 1952;43:283-286
    • Latest
      J:253580 Zhang L, et al., Loss of Tmem30a leads to photoreceptor degeneration. Sci Rep. 2017 Aug 24;7(1):9296

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory