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

Gene ID: 57198, updated on 3-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
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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 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)

Genotypes

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

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