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    ATP8A2 ATPase phospholipid transporting 8A2 [ Homo sapiens (human) ]

    Gene ID: 51761, updated on 28-Oct-2024

    Summary

    Official Symbol
    ATP8A2provided by HGNC
    Official Full Name
    ATPase phospholipid transporting 8A2provided by HGNC
    Primary source
    HGNC:HGNC:13533
    See related
    Ensembl:ENSG00000132932 MIM:605870; AllianceGenome:HGNC:13533
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IB; ATP; ML-1; ATPIB; CAMRQ4
    Summary
    The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with a syndrome (CAMRQ4) characterized by cerebellar ataxia and cognitive disabilities. In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
    Expression
    Biased expression in brain (RPKM 6.4), testis (RPKM 2.7) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ATP8A2 in Genome Data Viewer
    Location:
    13q12.13
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (25371974..26025851)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (24581610..25239722)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (25946112..26599989)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7487 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32788 Neighboring gene CRISPRi-validated cis-regulatory element chr13.188 Neighboring gene nucleoporin 58 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:25971441-25972042 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:25972043-25972644 Neighboring gene elongin B pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:26028835-26029335 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:26052317-26053192 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:26086829-26087701 Neighboring gene NANOG hESC enhancer GRCh37_chr13:26118592-26119123 Neighboring gene RNA, U6 small nuclear 78, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7489 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:26484777-26485332 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr13:26485333-26485887 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:26548551-26549090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:26549091-26549629 Neighboring gene uncharacterized LOC105370122 Neighboring gene RNA, 7SL, cytoplasmic 741, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:26550993-26551936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:26552889-26553440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:26585998-26586498 Neighboring gene RNY1 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:26586499-26586999 Neighboring gene long intergenic non-protein coding RNA 415 Neighboring gene shisa family member 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
    MedGen: C3808977 OMIM: 615268 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp434B1913

    Gene Ontology Provided by GOA

    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 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
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aminophospholipid translocation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of light stimulus involved in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in involuntary skeletal muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in neurofilament cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular process controlling posture IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phospholipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of phospholipid translocation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to auditory stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina layer formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skin development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    part_of phospholipid-translocating ATPase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    phospholipid-transporting ATPase IB
    Names
    ATPase, aminophospholipid transporter, class I, type 8A, member 2
    ATPase, aminophospholipid transporter-like, class I, type 8A, member 2
    P4-ATPase flippase complex alpha subunit ATP8A2
    probable phospholipid-transporting ATPase IB
    NP_001300670.1
    NP_001397934.1
    NP_001397935.1
    NP_057613.4
    XP_005266476.1
    XP_011533406.1
    XP_011533409.1
    XP_011533411.1
    XP_011533415.1
    XP_016876114.1
    XP_016876115.1
    XP_024305137.1
    XP_047286339.1
    XP_054230574.1
    XP_054230575.1
    XP_054230576.1
    XP_054230577.1
    XP_054230578.1
    XP_054230579.1
    XP_054230580.1
    XP_054230581.1
    XP_054230582.1
    XP_054230583.1

    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.

    Genomic

    1. NG_042855.1 RefSeqGene

      Range
      4964..658841
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001313741.1NP_001300670.1  phospholipid-transporting ATPase IB isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and lacks an alternate in-frame exon in the central coding region. These differences cause translation initiation at a downstream start codon and result in an isoform (2) with a shorter N-terminus, and lacking an internal segment, compared to isoform 1.
      Source sequence(s)
      AK094653, AK126031, AK127263, AK302980, AL136438, AL138815, AL139004, AL390129, AL669971, BP396213, HY026915
      UniProtKB/TrEMBL
      B7Z880, Q6ZU25
      Conserved Domains (6) summary
      TIGR01652
      Location:281041
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:85304
      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:8081034
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:776805
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    2. NM_001411005.1NP_001397934.1  phospholipid-transporting ATPase IB isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL136438, AL138815, AL138958, AL139004, AL157366, AL356316, AL669971
      Consensus CDS
      CCDS91793.1
      UniProtKB/TrEMBL
      A0A804HKW9
      Related
      ENSP00000508103.1, ENST00000682472.1
    3. NM_001411006.1NP_001397935.1  phospholipid-transporting ATPase IB isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL136438, AL138815, AL138958, AL157366, AL356316, AL669971
      Consensus CDS
      CCDS91792.1
      UniProtKB/TrEMBL
      A0A804HI09
      Related
      ENSP00000506846.1, ENST00000683960.1
    4. NM_016529.6NP_057613.4  phospholipid-transporting ATPase IB isoform 1

      See identical proteins and their annotated locations for NP_057613.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF236871, AK094653, AK126031, AK127263, AL136438, AL138815, AL138958, AL139004, AL390129, AL669971, BP396213, DA326706
      Consensus CDS
      CCDS41873.1
      UniProtKB/Swiss-Prot
      Q6ZSP3, Q9H527, Q9NPU6, Q9NTI2, Q9NTL2, Q9NYM3
      UniProtKB/TrEMBL
      A0A804HLG3
      Related
      ENSP00000371070.2, ENST00000381655.7
      Conserved Domains (1) summary
      TIGR01652
      Location:681106
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      25371974..26025851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535107.4XP_011533409.1  phospholipid-transporting ATPase IB isoform X8

      UniProtKB/TrEMBL
      A0A804HLG3
      Related
      ENSP00000508339.1, ENST00000683303.1
      Conserved Domains (6) summary
      TIGR01652
      Location:681051
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:125344
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:506604
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:57119
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:8481054
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:816845
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    2. XM_011535113.3XP_011533415.1  phospholipid-transporting ATPase IB isoform X5

      UniProtKB/TrEMBL
      A0A804HKN1
      Conserved Domains (3) summary
      pfam00122
      Location:125344
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:506604
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:57119
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    3. XM_017020626.2XP_016876115.1  phospholipid-transporting ATPase IB isoform X7

      UniProtKB/TrEMBL
      A0A804HKN1
    4. XM_017020625.3XP_016876114.1  phospholipid-transporting ATPase IB isoform X6

      UniProtKB/TrEMBL
      A0A804HKN1
    5. XM_047430383.1XP_047286339.1  phospholipid-transporting ATPase IB isoform X1

    6. XM_005266419.2XP_005266476.1  phospholipid-transporting ATPase IB isoform X1

      See identical proteins and their annotated locations for XP_005266476.1

      UniProtKB/TrEMBL
      Q6ZU25
      Related
      ENSP00000507489.1, ENST00000684424.1
      Conserved Domains (1) summary
      TIGR01652
      Location:281066
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    7. XM_011535104.3XP_011533406.1  phospholipid-transporting ATPase IB isoform X2

      UniProtKB/TrEMBL
      Q6ZU25
      Related
      ENST00000683945.1
      Conserved Domains (6) summary
      TIGR01652
      Location:341066
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:85304
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:466564
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:3479
      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
    8. XM_011535109.4XP_011533411.1  phospholipid-transporting ATPase IB isoform X3

      See identical proteins and their annotated locations for XP_011533411.1

      UniProtKB/TrEMBL
      Q6ZU25
      Conserved Domains (5) summary
      TIGR01652
      Location:1946
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:2184
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:346444
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:688939
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:656685
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    9. XM_024449369.1XP_024305137.1  phospholipid-transporting ATPase IB isoform X4

      UniProtKB/TrEMBL
      Q6ZU25
      Conserved Domains (1) summary
      TIGR01652
      Location:1908
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187593.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      489..133501 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      24581610..25239722
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374602.1XP_054230577.1  phospholipid-transporting ATPase IB isoform X9

    2. XM_054374605.1XP_054230580.1  phospholipid-transporting ATPase IB isoform X10

    3. XM_054374606.1XP_054230581.1  phospholipid-transporting ATPase IB isoform X5

    4. XM_054374608.1XP_054230583.1  phospholipid-transporting ATPase IB isoform X7

    5. XM_054374607.1XP_054230582.1  phospholipid-transporting ATPase IB isoform X6

    6. XM_054374601.1XP_054230576.1  phospholipid-transporting ATPase IB isoform X1

    7. XM_054374599.1XP_054230574.1  phospholipid-transporting ATPase IB isoform X1

    8. XM_054374600.1XP_054230575.1  phospholipid-transporting ATPase IB isoform X2

    9. XM_054374603.1XP_054230578.1  phospholipid-transporting ATPase IB isoform X3

    10. XM_054374604.1XP_054230579.1  phospholipid-transporting ATPase IB isoform X4