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. [... See more...

Aliases for ATP8B2 Gene

Aliases for ATP8B2 Gene

  • ATPase Phospholipid Transporting 8B2 2 3 5
  • ATPase, Aminophospholipid Transporter, Class I, Type 8B, Member 2 2 3
  • P4-ATPase Flippase Complex Alpha Subunit ATP8B2 3 4
  • Phospholipid-Transporting ATPase ID 3 4
  • ATPase, Class I, Type 8B, Member 2 2 3
  • ATPID 3 4
  • 36/8-9 Fusion Protein With Epitope For Anti-Lectin Antibody 3
  • Probable Phospholipid-Transporting ATPase ID 3
  • ATPase Class I Type 8B Member 2 4
  • EC 3.6.3.1 52
  • EC 7.6.2.1 4
  • KIAA1137 4
  • EC 3.6.3 52

External Ids for ATP8B2 Gene

Previous GeneCards Identifiers for ATP8B2 Gene

  • GC01P152118
  • GC01P150032
  • GC01P151076
  • GC01P151518
  • GC01P151517
  • GC01P151113
  • GC01P152564
  • GC01P154298
  • GC01P125661

Summaries for ATP8B2 Gene

Entrez Gene Summary for ATP8B2 Gene

  • 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]

GeneCards Summary for ATP8B2 Gene

ATP8B2 (ATPase Phospholipid Transporting 8B2) is a Protein Coding gene. Diseases associated with ATP8B2 include Cholestasis, Benign Recurrent Intrahepatic, 1 and Cholestasis, Progressive Familial Intrahepatic, 1. Among its related pathways are Mesodermal Commitment Pathway and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP8B4.

UniProtKB/Swiss-Prot Summary for ATP8B2 Gene

  • Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable).

Additional gene information for ATP8B2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP8B2 Gene

Genomics for ATP8B2 Gene

GeneHancer (GH) Regulatory Elements for ATP8B2 Gene

Promoters and enhancers for ATP8B2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP8B2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP8B2

Top Transcription factor binding sites by QIAGEN in the ATP8B2 gene promoter:
  • Pax-4a
  • Pbx1a
  • POU2F1
  • POU2F1a
  • Spz1

Genomic Locations for ATP8B2 Gene

Genomic Locations for ATP8B2 Gene
chr1:154,325,553-154,351,304
(GRCh38/hg38)
Size:
25,752 bases
Orientation:
Plus strand
chr1:154,298,029-154,323,783
(GRCh37/hg19)
Size:
25,755 bases
Orientation:
Plus strand

Genomic View for ATP8B2 Gene

Genes around ATP8B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP8B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP8B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP8B2 Gene

Proteins for ATP8B2 Gene

  • Protein details for ATP8B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98198-AT8B2_HUMAN
    Recommended name:
    Phospholipid-transporting ATPase ID
    Protein Accession:
    P98198
    Secondary Accessions:
    • B4E3P4
    • Q6NT69
    • Q7Z486
    • Q96I43
    • Q96NQ7

    Protein attributes for ATP8B2 Gene

    Size:
    1209 amino acids
    Molecular mass:
    137440 Da
    Quaternary structure:
    • Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit (Probable). The probable flippase ATP8B2:TMEM30A complex can form an intermediate phosphoenzyme in vitro. The interaction with TMEM30B is reported conflictingly.
    SequenceCaution:
    • Sequence=AAH30288.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB70822.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAG65556.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP8B2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP8B2 Gene

Selected DME Specific Peptides for ATP8B2 Gene

P98198:
  • TAIEDKLQ
  • DTKLMQNS
  • SPDEGALV
  • TLAIGDG
  • ARTTTLNE
  • IGDGANDVSMI
  • RNFGFVF
  • FSDKTGTLT
  • WVLTGDK
  • LTGDKQETA
  • DKTGTLT
  • LNEELGQV
  • LCHTVMSEE
  • PNNKLDKF
  • CKAVICCRV
  • MIKTAHIGVGISGQEG
  • LAIGDGA
  • VGDIIKLENN
  • PISLYVS
  • GVFDQDV

Post-translational modifications for ATP8B2 Gene

  • Ubiquitination at Lys229
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP8B2 Gene

Domains & Families for ATP8B2 Gene

Gene Families for ATP8B2 Gene

Suggested Antigen Peptide Sequences for ATP8B2 Gene

GenScript: Design optimal peptide antigens:
  • ATPase class I type 8B member 2 (AT8B2_HUMAN)
  • ATPase, class I, type 8B, member 2 (Q5VZ21_HUMAN)
  • ATP8B2 protein (Q6P3T1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P98198

UniProtKB/Swiss-Prot:

AT8B2_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
genes like me logo Genes that share domains with ATP8B2: view

Function for ATP8B2 Gene

Molecular function for ATP8B2 Gene

UniProtKB/Swiss-Prot Function:
Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).; EC=7.6.2.1;.

Enzyme Numbers (IUBMB) for ATP8B2 Gene

Phenotypes From GWAS Catalog for ATP8B2 Gene

Gene Ontology (GO) - Molecular Function for ATP8B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0005524 ATP binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ATP8B2: view
genes like me logo Genes that share phenotypes with ATP8B2: view

Animal Models for ATP8B2 Gene

MGI Knock Outs for ATP8B2:
  • Atp8b2 Atp8b2<tm1a(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP8B2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP8B2 Gene

Localization for ATP8B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP8B2 Gene

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=TMEM30A, but not TMEM30B, is required for its export from endoplasmic reticulum to the plasma membrane. {ECO:0000269 PubMed:20961850}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP8B2 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
endoplasmic reticulum 3
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1
endosome 1

Gene Ontology (GO) - Cellular Components for ATP8B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IBA,IDA 20947505
GO:0005886 plasma membrane TAS,IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ATP8B2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP8B2 Gene

Pathways & Interactions for ATP8B2 Gene

genes like me logo Genes that share pathways with ATP8B2: view

Pathways by source for ATP8B2 Gene

Gene Ontology (GO) - Biological Process for ATP8B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0007030 Golgi organization IBA 21873635
GO:0015914 phospholipid transport IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0045332 phospholipid translocation IBA 21873635
genes like me logo Genes that share ontologies with ATP8B2: view

No data available for SIGNOR curated interactions for ATP8B2 Gene

Drugs & Compounds for ATP8B2 Gene

(2) Drugs for ATP8B2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(401) Additional Compounds for ATP8B2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
PA(16:0/16:0)
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphate
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphoric acid
  • Dipalmitoyl phosphatidic acid
  • PA(32:0)
7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1N7)
  • PA(16:0/18:1W7)
PA(16:0/18:1(9Z))
  • (2R)-1-(Palmitoyloxy)-3-(phosphonooxy)propan-2-yl (9Z)-octadec-9-enoate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol 3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • PA(16:0/18:1)
PA(16:0/18:2(9Z,12Z))
  • 1-16:0-2-18:2-Phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • 16:0-18:2-PA
  • 2-Linoleoyl-1-palmitoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
genes like me logo Genes that share compounds with ATP8B2: view

Transcripts for ATP8B2 Gene

mRNA/cDNA for ATP8B2 Gene

6 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP8B2 Gene

No ASD Table

Relevant External Links for ATP8B2 Gene

GeneLoc Exon Structure for
ATP8B2

Expression for ATP8B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP8B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP8B2 Gene

This gene is overexpressed in Adipocyte (54.6) and Plasma (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATP8B2 Gene



Protein tissue co-expression partners for ATP8B2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP8B2

SOURCE GeneReport for Unigene cluster for ATP8B2 Gene:

Hs.435700

mRNA Expression by UniProt/SwissProt for ATP8B2 Gene:

P98198-AT8B2_HUMAN
Tissue specificity: Isoform 3 is ubiquitous, with highest expression in aorta, cerebellum and uterus.

Evidence on tissue expression from TISSUES for ATP8B2 Gene

  • Intestine(4.2)
  • Lung(4.2)
  • Muscle(4.2)
  • Nervous system(4.2)
  • Liver(4)
genes like me logo Genes that share expression patterns with ATP8B2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP8B2 Gene

Orthologs for ATP8B2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP8B2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP8B2 31 30
  • 99.38 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP8B2 31
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP8B2 31 30
  • 92.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atp8b2 17 31 30
  • 90.7 (n)
rat
(Rattus norvegicus)
Mammalia LOC685152 30
  • 90.36 (n)
dog
(Canis familiaris)
Mammalia ATP8B2 31 30
  • 89.7 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 81 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ATP8B2 31 30
  • 83.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP8B2 31
  • 86 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii atp8b2 31
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14741 31 32 30
  • 61.03 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002644 30
  • 60.17 (n)
worm
(Caenorhabditis elegans)
Secernentea tat-2 31 30
  • 57.2 (n)
OneToMany
T24H7.5b 32
  • 35 (a)
T24H7.5a 32
  • 35 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.19983 30
Species where no ortholog for ATP8B2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for ATP8B2 Gene

ENSEMBL:
Gene Tree for ATP8B2 (if available)
TreeFam:
Gene Tree for ATP8B2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP8B2: view image

Paralogs for ATP8B2 Gene

(12) SIMAP similar genes for ATP8B2 Gene using alignment to 2 proteins:

  • AT8B2_HUMAN
  • Q6P3T1_HUMAN

Pseudogenes.org Pseudogenes for ATP8B2 Gene

genes like me logo Genes that share paralogs with ATP8B2: view

Variants for ATP8B2 Gene

Additional dbSNP identifiers (rs#s) for ATP8B2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP8B2 Gene

Variant ID Type Subtype PubMed ID
nsv1078973 CNV deletion 25765185
nsv1142782 CNV deletion 24896259
nsv521887 CNV gain 19592680
nsv523934 CNV loss 19592680

Variation tolerance for ATP8B2 Gene

Residual Variation Intolerance Score: 12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP8B2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP8B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP8B2 Gene

Disorders for ATP8B2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATP8B2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP8B2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATP8B2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP8B2 Gene

Publications for ATP8B2 Gene

  1. FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. (PMID: 12880872) Harris MJ … Arias IM (Biochimica et biophysica acta 2003) 3 4 23 54
  2. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 54
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  4. Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases. (PMID: 20947505) van der Velden LM … van de Graaf SF (The Journal of biological chemistry 2010) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for ATP8B2 Gene