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

Gene ID: 51761, updated on 17-Jun-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
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Genomic context

See ATP8A2 in Genome Data Viewer
Location:
13q12.13
Exon count:
47
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (25371974..26025851)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (24581610..25239722)
105.20220307 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
  • 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
not available

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, A0A804HLG3
    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, A0A804HLG3
    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_2023_10

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

    UniProtKB/TrEMBL
    Q6ZU25
  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

    UniProtKB/TrEMBL
    A0A804HLG3
  2. XM_054374605.1XP_054230580.1  phospholipid-transporting ATPase IB isoform X10

    UniProtKB/TrEMBL
    A0A804HKN1
  3. XM_054374606.1XP_054230581.1  phospholipid-transporting ATPase IB isoform X5

    UniProtKB/TrEMBL
    A0A804HKN1
  4. XM_054374608.1XP_054230583.1  phospholipid-transporting ATPase IB isoform X7

    UniProtKB/TrEMBL
    A0A804HKN1
  5. XM_054374607.1XP_054230582.1  phospholipid-transporting ATPase IB isoform X6

    UniProtKB/TrEMBL
    A0A804HKN1
  6. XM_054374601.1XP_054230576.1  phospholipid-transporting ATPase IB isoform X1

    UniProtKB/TrEMBL
    Q6ZU25
  7. XM_054374599.1XP_054230574.1  phospholipid-transporting ATPase IB isoform X1

    UniProtKB/TrEMBL
    Q6ZU25
  8. XM_054374600.1XP_054230575.1  phospholipid-transporting ATPase IB isoform X2

    UniProtKB/TrEMBL
    Q6ZU25
  9. XM_054374603.1XP_054230578.1  phospholipid-transporting ATPase IB isoform X3

    UniProtKB/TrEMBL
    Q6ZU25
  10. XM_054374604.1XP_054230579.1  phospholipid-transporting ATPase IB isoform X4

    UniProtKB/TrEMBL
    Q6ZU25