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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
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:59884980-60324363 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 31.49 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    10098 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 Chr14:59875989-60434628 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP8A2, ATPase phospholipid transporting 8A2
  • Synonyms
    ATP, ATPIB, CAMRQ4, IB, ML-1
  • Links
    NCBI Gene ID: 51761
    neXtProt AC: NX_Q9NTI2
    UniProt: Q9NTI2

  • Chr Location
    13q12.13; chr13:25371974-26025851 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Atp8a2 mouse models; 1 with human ATP8A2 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
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
less
  • Phenotype Summary
    54 phenotypes from 9 alleles in 11 genetic backgrounds
    2 images
    29 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.
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. Mice also show shortening of the retina outer segment.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    42
  • GO References
    13
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
    880
  • Tissues
    58
  • cDNA Data
    16
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 50769 NCBI Gene Model | MGI Sequence Detail 439384 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 67
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 13
      Phenotypes 29
    • Earliest
      J:13068 Dickie MM, et al., A juvenile wabbler-lethal in the house mouse. J Hered. 1952;43(6):283-286
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory