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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
  • ATPase, Class I, Type 8B, Member 2 2 3
  • EC 3.6.3.1 4 58
  • ATPID 3 4
  • 36/8-9 Fusion Protein With Epitope For Anti-Lectin Antibody 3
  • Probable Phospholipid-Transporting ATPase ID 3
  • Phospholipid-Transporting ATPase ID 3
  • ATPase Class I Type 8B Member 2 4
  • KIAA1137 4
  • EC 3.6.3 58

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. Among its related pathways are Mesodermal Commitment Pathway and Cardiac conduction. 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 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 , fRNAdb sequence ontologies and piRNA Summary for ATP8B2 Gene

Genomics for ATP8B2 Gene

Regulatory Elements for ATP8B2 Gene

Enhancers for ATP8B2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H155242 1.5 ENCODE dbSUPER 53.7 +918.7 918690 2 FEZF1 YBX1 YY1 ZNF416 ZNF143 ZNF548 SP3 ZFP41 MEF2D ZNF610 KIAA0907 GON4L ENSG00000271267 CLK2 MSTO1 MSTO2P THBS3 RUSC1-AS1 LOC101928120 SHC1
GH01H155222 1.4 ENCODE dbSUPER 26.2 +900.2 900178 5 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 KIAA0907 MSTO1 ENSG00000271267 MSTO2P GON4L CLK2 LOC101928120 THBS3 RUSC1-AS1 GBAP1
GH01H154384 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.2 +60.6 60623 2 HDGF ATF1 FOXA2 ARID4B TCF12 GATA2 ELK1 ZNF143 ATF7 SP5 ATP8B2 IL6R-AS1 LOC101928101 RNU7-57P UBE2Q1-AS1 UBE2Q1 TDRD10 SHE C1orf189 SNAPIN
GH01H153772 1.3 ENCODE dbSUPER 21.3 -550.9 -550893 4 HDGF PKNOX1 SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF121 GLIS2 ELK1 ATP8B2 UBAP2L INTS3 CHTOP SLC27A3 ENSG00000207039 GC01M153786
GH01H153880 1.2 Ensembl ENCODE 21.7 -444.0 -444000 2 PKNOX1 FEZF1 ZNF2 GLIS2 SP3 TSHZ1 REST ZNF662 ZNF491 ZNF610 UBAP2L CREB3L4 INTS3 ATP8B2 ENSG00000272654 GATAD2B CRTC2 SLC39A1 JTB CHTOP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP8B2 on UCSC Golden Path with GeneCards custom track

Promoters for ATP8B2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000254568 47 2001 HDGF ARID4B SIN3A ZNF2 YY1 ZNF143 ZNF548 SP3 SP5 REST

Genomic Location for ATP8B2 Gene

Chromosome:
1
Start:
154,325,553 bp from pter
End:
154,351,307 bp from pter
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; Positions=364; 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 posLast=229229
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP8B2 Gene

Domains & Families for ATP8B2 Gene

Gene Families for ATP8B2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ATP8B2 Gene

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 CatalyticActivity:
ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).
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).

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:0004012 phospholipid-translocating ATPase activity IBA,TAS --
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity 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:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP8B2

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ATP8B2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

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 IDA 20947505
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ATP8B2: view

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:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0007030 Golgi organization IBA --
GO:0015914 phospholipid transport IEA --
GO:0034220 ion transmembrane transport TAS --
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 Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
PA(16:0/16:0)
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
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))
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)
PA(16:0/18:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)
genes like me logo Genes that share compounds with ATP8B2: view

Transcripts for ATP8B2 Gene

Unigene Clusters for ATP8B2 Gene

ATPase, aminophospholipid transporter, class I, type 8B, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ATP8B2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for ATP8B2 Gene

GeneLoc Exon Structure for
ATP8B2
ECgene alternative splicing isoforms for
ATP8B2

Expression for ATP8B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for ATP8B2 Gene



Protein tissue co-expression partners for ATP8B2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP8B2 Gene:

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

Primer Products

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 33 34
  • 99.38 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP8B2 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP8B2 33 34
  • 92.44 (n)
mouse
(Mus musculus)
Mammalia Atp8b2 33 16 34
  • 90.7 (n)
rat
(Rattus norvegicus)
Mammalia LOC685152 33
  • 90.36 (n)
dog
(Canis familiaris)
Mammalia ATP8B2 33 34
  • 89.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ATP8B2 33 34
  • 83.84 (n)
lizard
(Anolis carolinensis)
Reptilia ATP8B2 34
  • 86 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii atp8b2 34
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14741 35 33 34
  • 61.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002644 33
  • 60.17 (n)
worm
(Caenorhabditis elegans)
Secernentea tat-2 33 34
  • 57.2 (n)
T24H7.5a 35
  • 35 (a)
T24H7.5b 35
  • 35 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.19983 33
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)

Paralogs for ATP8B2 Gene

Paralogs for ATP8B2 Gene

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

Pseudogenes.org Pseudogenes for ATP8B2 Gene

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

Variants for ATP8B2 Gene

Sequence variations from dbSNP and Humsavar for ATP8B2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000026795 -- 154,324,217(+) CCCCC(A/G)TCCTT intron-variant, upstream-variant-2KB
rs1000273160 -- 154,339,214(+) AGAAT(A/G)TAGTT intron-variant
rs1000282965 -- 154,338,807(+) TCCCC(A/C/T)ACAAA intron-variant
rs1000381897 -- 154,324,344(+) TGGCA(C/T)AGCCA upstream-variant-2KB, reference, missense
rs1000436285 -- 154,346,538(+) TGGGG(C/T)TGCCC intron-variant

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)

Relevant External Links for ATP8B2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP8B2 Gene

Disorders for ATP8B2 Gene

Relevant External Links for ATP8B2

Genetic Association Database (GAD)
ATP8B2
Human Genome Epidemiology (HuGE) Navigator
ATP8B2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP8B2

No disorders were found for ATP8B2 Gene.

No data available for MalaCards , 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 22 60
  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 60
  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 45 60
  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 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for ATP8B2 Gene

Sources for ATP8B2 Gene

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