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    Atp8a2 ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 [ Mus musculus (house mouse) ]

    Gene ID: 50769, updated on 9-Dec-2024

    Summary

    Official Symbol
    Atp8a2provided by MGI
    Official Full Name
    ATPase, aminophospholipid transporter-like, class I, type 8A, member 2provided by MGI
    Primary source
    MGI:MGI:1354710
    See related
    Ensembl:ENSMUSG00000021983 AllianceGenome:MGI:1354710
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    wl; agil; Atpc1b
    Summary
    Enables aminophospholipid flippase activity. Involved in several processes, including detection of light stimulus involved in visual perception; positive regulation of cellular component organization; and sensory organ morphogenesis. Acts upstream of or within several processes, including determination of adult lifespan; eating behavior; and involuntary skeletal muscle contraction. Located in Golgi apparatus; endosome; and membrane. Is expressed in several structures, including nervous system; salivary gland; sensory organ; testis; and thymus. Used to study cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome. Human ortholog(s) of this gene implicated in cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4. Orthologous to human ATP8A2 (ATPase phospholipid transporting 8A2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in colon adult (RPKM 3.2), testis adult (RPKM 2.3) and 18 other tissues See more
    Orthologs
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    Genomic context

    See Atp8a2 in Genome Data Viewer
    Location:
    14 C3- D1; 14 31.49 cM
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (59884980..60324363, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (59647531..60086914, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene shisa family member 2 Neighboring gene eukaryotic translation initiation factor 4B pseudogene Neighboring gene STARR-seq mESC enhancer starr_36844 Neighboring gene STARR-seq mESC enhancer starr_36845 Neighboring gene STARR-seq mESC enhancer starr_36846 Neighboring gene STARR-seq mESC enhancer starr_36849 Neighboring gene STARR-seq mESC enhancer starr_36851 Neighboring gene STARR-positive B cell enhancer ABC_E8561 Neighboring gene RIKEN cDNA 4930563I02 gene Neighboring gene ribosomal protein S2 pseudogene Neighboring gene eukaryotic translation initiation factor 1-like

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    vestibulomotor degeneration
    GeneReviews: Not available
    wabbler-lethal
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATPase-coupled intramembrane lipid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables aminophospholipid flippase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylethanolamine flippase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylserine flippase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylserine floppase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in aminophospholipid translocation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in detection of light stimulus involved in visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within determination of adult lifespan IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within eating behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inner ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within involuntary skeletal muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neurofilament cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuromuscular process controlling posture IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within neuron development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phospholipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phospholipid translocation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to auditory stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retina layer formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    part_of phospholipid-translocating ATPase complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of phospholipid-translocating ATPase complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    phospholipid-transporting ATPase IB
    Names
    ATPase 8A2, class I
    ATPase 8A2, p type
    ATPase class I type 8A member 2
    ATPase, class 1, member a
    P4-ATPase flippase complex alpha subunit ATP8A2
    probable phospholipid-transporting ATPase IB
    NP_056618.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_015803.3NP_056618.1  phospholipid-transporting ATPase IB

      See identical proteins and their annotated locations for NP_056618.1

      Status: VALIDATED

      Source sequence(s)
      AC123534, AC126684, AC131687, AC159320, AC161375
      Consensus CDS
      CCDS27174.1
      UniProtKB/Swiss-Prot
      B2RQF2, P98200
      Related
      ENSMUSP00000079238.6, ENSMUST00000080368.13
      Conserved Domains (6) summary
      TIGR01652
      Location:281066
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:85170
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:466564
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:1779
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:8081059
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:776805
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      59884980..60324363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)