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Aliases for ATP8B2 Gene

Aliases for ATP8B2 Gene

  • ATPase Phospholipid Transporting 8B2 2 3
  • ATPase, Aminophospholipid Transporter, Class I, Type 8B, Member 2 2 3 5
  • P4-ATPase Flippase Complex Alpha Subunit ATP8B2 3 4
  • ATPase, Class I, Type 8B, Member 2 2 3
  • EC 3.6.3.1 4 63
  • 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
  • KIAA1137 4
  • EC 3.6.3 63

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 Ion channel transport and Cardiac conduction. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP10A.

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).

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around ATP8B2 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ATP8B2 Gene at MOPED

Post-translational modifications for ATP8B2 Gene

  • Ubiquitination at Lys 229
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP8B2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ATP8B2 Gene

Gene Families for ATP8B2 Gene

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

Gene Ontology (GO) - Molecular Function for ATP8B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium 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

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
Jensen Localization Image for ATP8B2 Gene COMPARTMENTS Subcellular localization image for ATP8B2 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
endoplasmic reticulum 4
cytosol 2
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components 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

Interacting Proteins for ATP8B2 Gene

Gene Ontology (GO) - Biological Process for ATP8B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IBA --
GO:0034220 ion transmembrane transport TAS --
GO:0045332 phospholipid translocation IEA,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

(1) Drugs for ATP8B2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(402) 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:

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 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



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.
genes like me logo Genes that share expression patterns with ATP8B2: view

Protein tissue co-expression partners for ATP8B2 Gene

Primer Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ATP8B2 35
  • 92.44 (n)
  • 98.49 (a)
ATP8B2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP8B2 35
  • 89.7 (n)
  • 95.11 (a)
ATP8B2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp8b2 35
  • 90.7 (n)
  • 97.14 (a)
Atp8b2 16
Atp8b2 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP8B2 35
  • 99.38 (n)
  • 99.66 (a)
ATP8B2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC685152 35
  • 90.36 (n)
  • 97.05 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP8B2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ATP8B2 35
  • 83.84 (n)
  • 92.33 (a)
ATP8B2 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP8B2 36
  • 86 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii atp8b2 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14741 37
  • 54 (a)
CG14741 35
  • 61.03 (n)
  • 59.26 (a)
CG14741 36
  • 39 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002644 35
  • 60.17 (n)
  • 60.05 (a)
worm
(Caenorhabditis elegans)
Secernentea T24H7.5a 37
  • 35 (a)
T24H7.5b 37
  • 35 (a)
tat-2 35
  • 57.2 (n)
  • 58.3 (a)
tat-2 36
  • 49 (a)
OneToMany
wheat
(Triticum aestivum)
Liliopsida Ta.19983 35
Species with no ortholog for ATP8B2:
  • 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

(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
rs749966 -- 154,341,932(-) GTTCC(A/G)CCTGG intron-variant
rs753034 -- 154,343,453(+) CATAG(C/G/T)GCGGA nc-transcript-variant, reference, missense
rs767804 -- 154,338,019(+) TGGAT(A/C)GGTCG intron-variant, downstream-variant-500B
rs1194583 -- 154,347,720(-) caggt(A/G)atccg intron-variant
rs1194584 -- 154,347,280(-) aaggc(A/C)tttat intron-variant

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

Variant ID Type Subtype PubMed ID
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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 2 3 4 67
  2. FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. (PMID: 12880872) Harris M.J. … Arias I.M. (Biochim. Biophys. Acta 2003) 3 23
  3. Differential expression of putative transbilayer amphipath transporters. (PMID: 11015572) Halleck M.S. … Schlegel R.A. (Physiol. Genomics 1999) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Characterization of P4 ATPase Phospholipid Translocases (Flippases) in Human and Rat Pancreatic Beta Cells: THEIR GENE SILENCING INHIBITS INSULIN SECRETION. (PMID: 26240149) Ansari I.U. … MacDonald M.J. (J. Biol. Chem. 2015) 3

Products for ATP8B2 Gene

Sources for ATP8B2 Gene

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