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    ATP8B2 ATPase phospholipid transporting 8B2 [ Homo sapiens (human) ]

    Gene ID: 57198, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ATP8B2provided by HGNC
    Official Full Name
    ATPase phospholipid transporting 8B2provided by HGNC
    Primary source
    HGNC:HGNC:13534
    See related
    Ensembl:ENSG00000143515 MIM:605867; AllianceGenome:HGNC:13534
    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
    ATPID
    Summary
    The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 16.7), endometrium (RPKM 13.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATP8B2 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (154325525..154351304)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153462692..153488469)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154298001..154323780)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 121, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:154293348-154293539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1355 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:154303097-154304296 Neighboring gene aquaporin 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154320806-154321790 Neighboring gene RNA, U7 small nuclear 57 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154321791-154322774 Neighboring gene MPRA-validated peak417 silencer Neighboring gene MPRA-validated peak418 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1778 Neighboring gene mitochondrial ribosomal protein S33 pseudogene 1 Neighboring gene ribosomal protein SA pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1356 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154378343-154378949 Neighboring gene IL6R antisense RNA 1 Neighboring gene interleukin 6 receptor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. Harris MJ, et al. Biochim Biophys Acta, 2003 Jul 21. PMID 12880872
    2. Phospholipid flippase activities and substrate specificities of human type IV P-type ATPases localized to the plasma membrane. Takatsu H, et al. J Biol Chem, 2014 Nov 28. PMID 25315773, Free PMC Article
    3. Soluble bovine galactose-binding lectin. cDNA cloning reveals the complete amino acid sequence and an antigenic relationship with the major encephalitogenic domain of myelin basic protein. Abbott WM, et al. Biochem J, 1989 Apr 1. PMID 2470348, Free PMC Article
    4. CDC50 proteins are critical components of the human class-1 P4-ATPase transport machinery. Bryde S, et al. J Biol Chem, 2010 Dec 24. PMID 20961850, Free PMC Article
    5. Characterization of P4 ATPase Phospholipid Translocases (Flippases) in Human and Rat Pancreatic Beta Cells: THEIR GENE SILENCING INHIBITS INSULIN SECRETION. Ansari IU, et al. J Biol Chem, 2015 Sep 18. PMID 26240149, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the predominant P4 ATPases in pure pancreatic beta cells and human and rat pancreatic islets were ATP8B1, ATP8B2, and ATP9A. ATP8B1 and CDC50A were highly concentrated in ISG
      Title: Characterization of P4 ATPase Phospholipid Translocases (Flippases) in Human and Rat Pancreatic Beta Cells: THEIR GENE SILENCING INHIBITS INSULIN SECRETION.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1137, DKFZp434M0219

    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 ATPase-coupled intramembrane lipid transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylcholine flippase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylcholine 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 Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in phospholipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus 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 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    phospholipid-transporting ATPase ID
    Names
    36/8-9 fusion protein with epitope for anti-lectin antibody
    ATPase, aminophospholipid transporter, class I, type 8B, member 2
    ATPase, class I, type 8B, member 2
    P4-ATPase flippase complex alpha subunit ATP8B2
    probable phospholipid-transporting ATPase ID
    NP_001005855.1
    NP_001354863.1
    NP_001357525.1
    NP_001357526.1
    NP_001358938.1
    XP_047281955.1
    XP_054193779.1

    NCBI Reference Sequences (RefSeq)

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    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_001005855.2 → NP_001005855.1  phospholipid-transporting ATPase ID isoform b

      See identical proteins and their annotated locations for NP_001005855.1

      Status: REVIEWED

      Source sequence(s)
      AL162591
      Consensus CDS
      CCDS41405.1
      UniProtKB/Swiss-Prot
      P98198
      Related
      ENSP00000357472.3, ENST00000368487.7
      Conserved Domains (1) summary
      pfam16209
      Location:18 → 80
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal

    2. NM_001367934.1 → NP_001354863.1  phospholipid-transporting ATPase ID isoform c

      Status: REVIEWED

      Source sequence(s)
      AL162591
      Consensus CDS
      CCDS91062.1
      UniProtKB/Swiss-Prot
      B4E3P4, P98198, Q6NT69, Q7Z486, Q96I43, Q96NQ7
      Related
      ENSP00000512728.1, ENST00000696573.1

    3. NM_001370596.1 → NP_001357525.1  phospholipid-transporting ATPase ID isoform d

      Status: REVIEWED

      Source sequence(s)
      AL162591
      Conserved Domains (1) summary
      cd02073
      Location:31 → 973
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

    4. NM_001370597.1 → NP_001357526.1  phospholipid-transporting ATPase ID isoform e

      Status: REVIEWED

      Source sequence(s)
      AL162591
      Consensus CDS
      CCDS1066.2
      UniProtKB/TrEMBL
      A0A5K1VW70
      Related
      ENSP00000357475.4, ENST00000368489.6
      Conserved Domains (1) summary
      cd02073
      Location:31 → 972
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

    5. NM_001372009.1 → NP_001358938.1  phospholipid-transporting ATPase ID isoform e

      Status: REVIEWED

      Source sequence(s)
      AL162591
      Consensus CDS
      CCDS1066.2
      UniProtKB/TrEMBL
      A0A5K1VW70
      Related
      ENSP00000500034.1, ENST00000672630.1
      Conserved Domains (1) summary
      cd02073
      Location:31 → 972
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      154325525..154351304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425999.1 → XP_047281955.1  phospholipid-transporting ATPase ID isoform X1

    RNA

    1. XR_007062016.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      153462692..153488469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337804.1 → XP_054193779.1  phospholipid-transporting ATPase ID isoform X1

    RNA

    1. XR_008486117.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020452.4: Suppressed sequence

      Description
      NM_020452.4: This RefSeq was removed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P98198.2 GenPept UniProtKB/Swiss-Prot:P98198

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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