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ATP8B2 Gene

protein-coding   GIFtS: 57
GCID: GC01P154298

ATPase, Aminophospholipid Transporter, Class I, Type 8B,...

(Previous names: ATPase, class I, type 8B, member 2)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase, Aminophospholipid Transporter, Class I, Type 8B, Member 21 2     Probable Phospholipid-Transporting ATPase ID2
ATPID2 3 5     KIAA11373
ATPase, Class I, Type 8B, Member 21 2     ATPase Class I Type 8B Member 23
EC 3.6.3.13 8     EC 3.6.38
Phospholipid-Transporting ATPase ID2     

External Ids:    HGNC: 135341   Entrez Gene: 571982   Ensembl: ENSG000001435157   OMIM: 6058675   UniProtKB: P981983   

Export aliases for ATP8B2 gene to outside databases

Previous GC identifers: GC01P152118 GC01P150032 GC01P151076 GC01P151518 GC01P151517 GC01P151113 GC01P152564 GC01P125661


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, aminophospholipid transporter, class I, type 8B, member 2) is a protein-coding gene. GO annotations related to this gene include magnesium ion binding and cation-transporting ATPase activity. An important paralog of this gene is ATP11A.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP8B2 gene promoter:
         Spz1   POU2F1   Pbx1a   POU2F1a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATP8B2 promoter sequence
   Search Chromatin IP Primers for ATP8B2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP8B2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.3   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21.3

ATP8B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP8B2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P154298:  view genomic region     (about GC identifiers)

Start:
154,298,029 bp from pter      End:
154,323,783 bp from pter
Size:
25,755 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AT8B2_HUMAN, P98198 (See protein sequence)
Recommended Name: Probable phospholipid-transporting ATPase ID  
Size: 1209 amino acids; 137440 Da
Sequence caution: Sequence=AAH30288.1; Type=Erroneous initiation; Sequence=BAB70822.1; Type=Frameshift;
Positions=364; Sequence=BAG65556.1; Type=Erroneous initiation;
Secondary accessions: B4E3P4 Q6NT69 Q7Z486 Q96I43 Q96NQ7
Alternative splicing: 4 isoforms:  P98198-1   P98198-2   P98198-3   P98198-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATP8B2: NX_P98198

Explore proteomics data for ATP8B2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys229
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP8B2 (P98198) (see all 20)
     LAIGDGA  TLAIGDG  RNFGFVF  WVLTGDK 


    See ATP8B2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001005855.1  NP_065185.1  

    ENSEMBL proteins: 
     ENSP00000357472   ENSP00000357475   ENSP00000340448  
    Reactome Protein details: P98198

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    antibodies-online proteins for ATP8B2 (2 products) 

     
    antibodies-online peptides for ATP8B2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: ATP8B2
    Phospholipid-transporting ATPase

    Selected InterPro protein domains (see all 6):
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR006539 ATPase_P-typ_Plipid-transp
     IPR001757 Cation_transp_P_typ_ATPase
     IPR018303 ATPase_P-typ_P_site

    Graphical View of Domain Structure for InterPro Entry P98198

    ProtoNet protein and cluster: P98198

    1 Blocks protein domain: IPB001757 ATPase

    UniProtKB/Swiss-Prot: AT8B2_HUMAN, P98198
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily


    Find genes that share domains with ATP8B2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT8B2_HUMAN, P98198
    Catalytic activity: ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2)

         Enzyme Numbers (IUBMB): EC 3.6.3.11 2 EC 3.6.32

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0000287magnesium ion binding IEA--
    GO:0004012phospholipid-translocating ATPase activity IEA--
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with ATP8B2           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Atp8b2):
     homeostasis/metabolism 

    Find genes that share phenotypes with ATP8B2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ATP8B2

    miRNA
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    miRTarBase miRNAs that target ATP8B2:
    hsa-mir-331-3p (MIRT043377), hsa-mir-18a-3p (MIRT040979), hsa-mir-124-3p (MIRT022360), hsa-mir-20a-5p (MIRT050479), hsa-mir-423-3p (MIRT042625), hsa-mir-335-5p (MIRT017239)

    Block miRNA regulation of human, mouse, rat ATP8B2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP8B2 (see all 53):
    hsa-miR-330-5p hsa-miR-1914* hsa-miR-218-1* hsa-miR-374a hsa-miR-30d hsa-miR-507 hsa-miR-4267 hsa-miR-877*
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): ATP8B2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AT8B2_HUMAN, P98198: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane RCA12880872

    Find genes that share ontologies with ATP8B2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP8B2 About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Ion transport by P-type ATPases
    Ion transport by P-type ATPases


    Find genes that share SuperPaths with ATP8B2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ATP8B2
        Ion transport by P-type ATPases


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP8B2
    Interactions:

        Search GeneGlobe Interaction Network for ATP8B2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for ATP8B2 (P981983 ENSP000003574754) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAJC2Q995433I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    TMEM30BENSP000003479304STRING: ENSP00000347930
    MON2ENSP000003772524STRING: ENSP00000377252
    GBF1ENSP000003590004STRING: ENSP00000359000
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process RCA12880872
    GO:0006812cation transport ----
    GO:0015914phospholipid transport ----
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--

    Find genes that share ontologies with ATP8B2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ATP8B2 (AT8B2)

    Selected HMDB Compounds for ATP8B2 (see all 2605)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(O-16:0/18:2(9Z,12Z))1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)88542-95-412486725
    PE(O-16:1(1Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 15)--12486725
    PE(O-18:1(1Z)/20:4(5Z,8Z,11Z,14Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 19)103597-60-012486725
    PE(P-16:0e/0:0)2-azaniumylethyl [(2R)-3-[(E)-hexadec-1-enoxy]-2-hydroxy-propyl] phosphate;1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine ;LysoPE(dm16:0e) --12486725
    PE(P-16:0e/18:1(9Z))2-(9Z-octadecanoyl)-1-hexadecyl-sn-glycero-3-phosphoethanolamine --12486725
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PA(16:0/16:0)Dipalmitoylphosphatidic acid (see all 25)7091-44-3--
    PA(16:0/18:1(11Z))PA(16:0/18:1n7) (see all 10)----
    PA(16:0/18:1(9Z))PA(16:0/18:1n9) (see all 10)----



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATP8B2 gene (2 alternative transcripts): 
    NM_001005855.1  NM_020452.3  

    Unigene Cluster for ATP8B2:

    ATPase, aminophospholipid transporter, class I, type 8B, member 2
    Hs.435700  [show with all ESTs]
    Unigene Representative Sequence: NM_020452
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368487(uc001few.3) ENST00000368490 ENST00000368489(uc001fex.3)
    ENST00000426445 ENST00000514107 ENST00000505882 ENST00000341822(uc001fey.1)

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    Selected qRT-PCR Assays for microRNAs that regulate ATP8B2 (see all 53):
    hsa-miR-330-5p hsa-miR-1914* hsa-miR-218-1* hsa-miR-374a hsa-miR-30d hsa-miR-507 hsa-miR-4267 hsa-miR-877*
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    Additional mRNA sequence: 

    AB032963.1 AK304806.1 AL137537.1 AY302537.1 BC007837.2 BC030288.1 BC041573.1 BC063858.1 
    BC069264.1 X58235.1 

    3 DOTS entries:

    DT.95157507  DT.75149140  DT.95204116 

    Selected AceView cDNA sequences (see all 81):

    BX101039 AL137537 NM_020452 AB032963 BI861069 BQ228487 BC069264 CA393751 
    BM712635 AY302537 BU145253 CR621246 AW295101 BC041573 BC063858 BC030288 
    BX441200 AF150357 AI800649 AW003610 BQ940106 AK054886 BU615851 AI335942 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATP8B2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGTCTGTG
    ATP8B2 Expression
    About this image


    ATP8B2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Pelvic Girdle
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Endochondral Facial Bones
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)
             Medulla Oblongata
    ATP8B2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP8B2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435700

    UniProtKB/Swiss-Prot: AT8B2_HUMAN, P98198
    Tissue specificity: Isoform 3 is ubiquitous, with highest expression in aorta, cerebellum and uterus

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP8B2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP8B2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp8b21 , 5 ATPase, class I, type 8B, member 21, 5 90.7(n)1
    97.14(a)1
      3 (39.19 cM)5
    546671  NM_001081182.21  NP_001074651.21 
     899394815 
    chicken
    (Gallus gallus)
    Aves ATP8B21 ATPase, class I, type 8B, member 2 83.84(n)
    92.33(a)
      770035  XM_001233349.3  XP_001233350.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATP8B26
    ATPase, aminophospholipid transporter, class I, ty...
    86(a)
    1 ↔ 1
    GL343805.1(152765-191822)
    zebrafish
    (Danio rerio)
    Actinopterygii 570461752   -- 80.09(n)    57046175 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG147411 , 3 P-type ATPase3
    CG147411
    54(a)3
    61.03(n)1
    59.26(a)1
      87A73
    414691  NM_001260139.11  NP_001247068.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T24H7.5b3
    tat-21
    ATPase3
    tat-21
    35(a)
    (best of 2)3
    57.2(n)1
    58.3(a)1
      II(6234538-6244184)3
    1772561  NM_001028081.21  NP_001023252.21 
    wheat
    (Triticum aestivum)
    Liliopsida Ta.199832 Triticum aestivum transcribed sequence with moderate more 76.92(n)    CD894847.1 


    ENSEMBL Gene Tree for ATP8B2 (if available)
    TreeFam Gene Tree for ATP8B2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP8B2 gene
    ATP11A2  ATP8B12  ATP8A12  ATP11C2  ATP11B2  ATP8A22  ATP8B42  ATP8B32  
    12 SIMAP similar genes for ATP8B2 using alignment to 2 protein entries:     AT8B2_HUMAN (see all proteins):
    ATP8B4    ATP8B1    ATP8A1    ATP8B3    ATP8A2    ATP11A
    ATP11C    ATP11B    ATP10A    ATP10B    ATP10D    ATP9A

    Find genes that share paralogs with ATP8B2           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ATP8B2
    PGOHUM00000243365 PGOHUM00000236448


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP8B2 (see all 655)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1415980971,2
    Cuntested1154321014(+) GACACG/AGTGAG 2 /T syn11Minor allele frequency- A:0.00NA 4548
    rs12055911,2
    C--154298374(+) CGGGTG/TCCCGG 2 -- int1 us2k111Minor allele frequency- T:0.19MN NA WA CSA EA 554
    rs74160101,2
    C,A,H--154298461(+) GGCGCG/AAGTGC 2 -- int1 us2k16Minor allele frequency- A:0.00NS EA NA 416
    rs284968191,2
    C,F,H--154298499(+) AGGGGA/GGACCC 2 -- int1 us2k12Minor allele frequency- G:0.23NS NA 286
    rs741157391,2
    C,F--154298924(+) CGAGAG/AGGGGC 2 -- int1 us2k12Minor allele frequency- A:0.08WA 120
    rs1446858251,2
    --154299009(+) TAAGAA/TGGAAA 2 -- int1 us2k10--------
    rs120831701,2
    C,F,H--154299045(+) GTCTCT/CCCTCT 2 -- int1 us2k1 trp34Minor allele frequency- C:0.05NS 790
    rs1416779911,2
    --154299287(+) GAACTC/TGTGAT 2 -- int1 us2k10--------
    rs1470881591,2
    --154299302(+) ACTCTG/TGCATC 2 -- int1 us2k10--------
    rs1919616681,2
    --154299457(+) CATAGC/TTGGAG 2 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for ATP8B2 (154298029 - 154323783 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ATP8B2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv523934CNV Loss19592680
    nsv521887CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP8B2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP8B2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605867    OMIM disorders: --


    Find genes that share disorders with ATP8B2           About GenesLikeMe

    Genetic Association Database (GAD): ATP8B2
    Human Genome Epidemiology (HuGE) Navigator: ATP8B2 (3 documents)

    Export disorders for ATP8B2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATP8B2 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with ATP8B2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2, 3 Hirosawa M.... Ohara O. (DNA Res. 1999)
    2. FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. (PubMed id 12880872)1, 2, 9 Harris M.J. and Arias I.M. (Biochim. Biophys. Acta 2003)
    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. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Differential expression of putative transbilayer amphipath transporters. (PubMed id 11015572)1, 3 Halleck M.S.... Schlegel R.A. (Physiol. Genomics 1999)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57198 HGNC: 13534 AceView: ATP8B2 Ensembl:ENSG00000143515 euGenes: HUgn57198
    ECgene: ATP8B2 H-InvDB: ATP8B2

    (According to HUGE)
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    HUGE: KIAA1137

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATP8B2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP8B2 gene:
    Search GeneIP for patents involving ATP8B2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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