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ATP8B4 Gene

protein-coding   GIFtS: 53
GCID: GC15M050150

ATPase, Class I, Type 8B, Member 4

(Previous names: ATPase, Class I, type 8B, member 4)
  See related diseases
at  

(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, Class I, Type 8B, Member 41 2     Probable Phospholipid-Transporting ATPase IM2
EC 3.6.3.13 8     KIAA19393
ATPIM2     ATPase Class I Type 8B Member 43
Potential Phospholipid-Transporting ATPase IM2     EC 3.6.38

External Ids:    HGNC: 135361   Entrez Gene: 798952   Ensembl: ENSG000001040437   OMIM: 6091235   UniProtKB: Q8TF623   

Export aliases for ATP8B4 gene to outside databases

Previous GC identifers: GC00U990808 GC15M047729 GC15M047866 GC15M047937 GC15M026981


(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 ATP8B4 Gene:
This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded
protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, Jan 2013)

GeneCards Summary for ATP8B4 Gene:
ATP8B4 (ATPase, class I, type 8B, member 4) is a protein-coding gene. Diseases associated with ATP8B4 include benign recurrent intrahepatic cholestasis, and intrahepatic cholestasis. GO annotations related to this gene include phospholipid-translocating ATPase activity and magnesium ion binding. 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:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP8B4 gene promoter:
         HOXA9   HOXA9B   GATA-3   AML1a   GATA-2   GATA-1   Meis-1b   HEN1   Ik-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP8B4 promoter sequence
   Search Chromatin IP Primers for ATP8B4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP8B4


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

Entrez Gene cytogenetic band: 15q21.2   Ensembl cytogenetic band:  15q21.2   HGNC cytogenetic band: 15q21.2

ATP8B4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP8B4 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M050150:  view genomic region     (about GC identifiers)

Start:
50,150,435 bp from pter      End:
50,475,014 bp from pter
Size:
324,580 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AT8B4_HUMAN, Q8TF62 (See protein sequence)
Recommended Name: Probable phospholipid-transporting ATPase IM  
Size: 1192 amino acids; 135868 Da
Sequence caution: Sequence=BAB15072.1; Type=Frameshift; Positions=997; Sequence=BAB85525.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Sequence of unknown origin inserted in the coding sequence;
Secondary accessions: Q9H727

Explore the universe of human proteins at neXtProt for ATP8B4: NX_Q8TF62

Explore proteomics data for ATP8B4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP8B4 (Q8TF62) (see all 19)
     LAIGDGA  TLAIGDG  WVLTGDK  DGETNLK 


    See ATP8B4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079113.2  
    ENSEMBL proteins: 
     ENSP00000452663   ENSP00000453229   ENSP00000453169   ENSP00000453070   ENSP00000453690  
     ENSP00000452956   ENSP00000453482   ENSP00000453143   ENSP00000453539   ENSP00000284509  
    Reactome Protein details: Q8TF62

    ATP8B4 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for ATP8B4


    (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: ATP8B4
    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 Q8TF62

    ProtoNet protein and cluster: Q8TF62

    1 Blocks protein domain: IPB001757 ATPase

    UniProtKB/Swiss-Prot: AT8B4_HUMAN, Q8TF62
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily


    ATP8B4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT8B4_HUMAN, Q8TF62
    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 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0000287magnesium ion binding IEA--
    GO:0004012phospholipid-translocating ATPase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0019829cation-transporting ATPase activity IEA--
         
    ATP8B4 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP8B4
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    Selected qRT-PCR Assays for microRNAs that regulate ATP8B4 (see all 23):
    hsa-miR-607 hsa-miR-520d-5p hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-346 hsa-miR-218 hsa-miR-515-5p
    SwitchGear 3'UTR luciferase reporter plasmidATP8B4 3' UTR sequence
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP8B4


    (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
    AT8B4_HUMAN, Q8TF62: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    golgi apparatus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    ATP8B4 for ontologies           About GeneDecksing


    (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 ATP8B4 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ATP8B4
        Ion transport by P-type ATPases



    ATP8B4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP8B4
    Interactions:

        Search GeneGlobe Interaction Network for ATP8B4

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

    Selected Interacting proteins for ATP8B4 (ENSP000002845094) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIP12ENSP000002839434STRING: ENSP00000283943
    LARSENSP000003779544STRING: ENSP00000377954
    TMEM30BENSP000003479304STRING: ENSP00000347930
    MON2ENSP000003772524STRING: ENSP00000377252
    GBF1ENSP000003590004STRING: ENSP00000359000
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0015914phospholipid transport ----

    ATP8B4 for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATP8B4 (AT8B4)

    Selected HMDB Compounds for ATP8B4 (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATP8B4 gene: 
    NM_024837.3  

    Unigene Cluster for ATP8B4:

    ATPase, class I, type 8B, member 4
    Hs.511311  [show with all ESTs]
    Unigene Representative Sequence: NR_073598
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000558498(uc001zxt.3) ENST00000559726(uc010ber.3) ENST00000559829
    ENST00000560479 ENST00000557955 ENST00000558906 ENST00000558203 ENST00000560354
    ENST00000560161 ENST00000561385(uc001zxv.1) ENST00000559998 ENST00000561104
    ENST00000558458 ENST00000558959 ENST00000560437 ENST00000558024 ENST00000558829
    ENST00000284509(uc001zxu.3 uc010ufd.2 uc010ufe.2)
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    Selected qRT-PCR Assays for microRNAs that regulate ATP8B4 (see all 23):
    hsa-miR-607 hsa-miR-520d-5p hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-346 hsa-miR-218 hsa-miR-515-5p
    SwitchGear 3'UTR luciferase reporter plasmidATP8B4 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat ATP8B4

    Additional mRNA sequence: 

    AB075819.1 AK025125.1 AK123747.1 AK128602.1 AL832039.1 BC057236.1 BC144297.1 BC144298.1 
    BX647496.1 NR_073596.1 NR_073597.1 NR_073598.1 

    14 DOTS entries:

    DT.121026407  DT.101974586  DT.425672  DT.75138857  DT.97822878  DT.121026391  DT.121026374  DT.121026384 
    DT.65286764  DT.91747926  DT.95294046  DT.95261575  DT.95261574  DT.95330538 

    Selected AceView cDNA sequences (see all 48):

    BX106818 BQ012502 AB075819 NM_024837 BF446914 AW468493 BI258773 AI638633 
    BX110805 AK128602 AJ713631 AL597024 BU754430 AL598105 AL832039 BX647496 
    AI760818 BG413537 BC057236 AA318526 BP343691 BF904690 AI083524 BQ011330 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ATP8B4    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^
    SP1:                                                                                                                          -                                 
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                      -                     
    SP4:                                                                                                                                                            

    ExUns: 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30
    SP1:        -     -                                 
    SP2:              -                                 
    SP3:                                                
    SP4:                                                


    ECgene alternative splicing isoforms for ATP8B4

    (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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    ATP8B4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ATP8B4 Expression
    About this image

    ATP8B4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP8B4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.511311

    UniProtKB/Swiss-Prot: AT8B4_HUMAN, Q8TF62
    Tissue specificity: Ubiquitously expressed at moderate levels

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP8B4

    (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 ATP8B4 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp8b41 , 5 ATPase, class I, type 8B, member 41, 5 85.74(n)1
    86.41(a)1
      2 (61.76 cM)5
    2416331  NM_001080944.31  NP_001074413.21 
     1263209735 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    64(a)
    many ↔ many
    Z(8744607-8805424)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    65(a)
    many ↔ many
    AAWZ02036689(11537-21022)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.10622 Transcribed sequence with weak similarity to protein more 73.92(n)    BX735914.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-167m1.41 si:ch211-167m1.4 67.88(n)
    72.62(a)
      559291  XM_682623.4  XP_687715.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG147416
    --
    37(a)
    1 → many
    3R(7894964-7916334)
    worm
    (Caenorhabditis elegans)
    Secernentea tat-26
    Protein TAT-2, isoform a (tat-2) mRNA, complete cd...
    47(a)
    1 → many
    IV(4827854-4846893) WBGene00019166
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G727001 AT1G72700 50.56(n)
    43.94(a)
      843602  NM_105929.4  NP_177414.1 
    rice
    (Oryza sativa)
    Liliopsida Os.89582 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.75(n)    NM_196468.1 


    ENSEMBL Gene Tree for ATP8B4 (if available)
    TreeFam Gene Tree for ATP8B4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP8B4 gene
    ATP11A2  ATP8B12  ATP11B2  ATP8A12  ATP11C2  ATP8A22  ATP8B22  ATP8B32  
    17 SIMAP similar genes for ATP8B4 using alignment to 9 protein entries:     AT8B4_HUMAN (see all proteins):
    ATP8B2    ATP8B1    ATP10A    DKFZp434P0831    DKFZp686H2093    ATP8A2
    ATP8B3    ATP8A1    DKFZp779H1459    ATP11A    ATP11C    ATP11B
    ATP9B    hMMR1    ATP10D    ATP10B    ATP9A

    ATP8B4 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ATP8B4
    PGOHUM00000261989 PGOHUM00000261991


    (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 ATP8B4 (see all 5048)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs284978681,2
    F--50150099(+) ATCCCC/TGGCGC 4 -- ds5001 int10--------
    rs1406448381,2
    --50150103(+) CTGGCA/GCTTGT 4 -- int1 ds50010--------
    rs1445429231,2
    --50150342(+) TTTCCC/TCAGCA 4 -- int1 ds50010--------
    rs42757931,2
    C,F,H--50150400(+) CCCCAA/GTGAAT 4 -- ds5001 int123Minor allele frequency- G:0.11NA NS EA 2562
    rs285640501,2
    C,F--50150525(+) ACAAAT/CTAGAC 4 -- nc-transcript-variantut313Minor allele frequency- C:0.04WA CSA 122
    rs1466291181,2
    C--50150711(+) CTATAA/GATATC 4 -- nc-transcript-variantut310--------
    rs1412640321,2
    C--50150718(+) TATCAC/TATTAG 4 -- nc-transcript-variantut310--------
    rs1858924531,2
    --50150802(+) TAATAC/GGGACC 4 -- nc-transcript-variantut310--------
    rs1905586221,2
    --50150807(+) GGGACC/TAGATT 4 -- nc-transcript-variantut310--------
    rs74973501,2
    C,F,A,H--50150903(+) ctccaA/C/Tggtta 8 -- nc-transcript-variantut3122NS EA NA WA CSA 2342

    HapMap Linkage Disequilibrium report for ATP8B4 (50150435 - 50400435 bp, first 250kb of ATP8B4)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ATP8B4 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2196763CNV Deletion18987734
    esv2749673CNV Deletion23290073
    nsv1529CNV Insertion18451855
    nsv457133CNV Loss19166990
    dgv2382n71CNV Loss21882294
    nsv833003CNV Loss17160897
    nsv1530CNV Loss18451855
    nsv904206CNV Loss21882294
    nsv517014CNV Loss19592680
    nsv529006CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP8B4
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP8B4

    (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: 609123    OMIM disorders: --

    7 diseases for ATP8B4:    
    About MalaCards
    benign recurrent intrahepatic cholestasis    intrahepatic cholestasis    cholestasis    liver disease
    multiple myeloma    myeloma    alzheimer's disease


    ATP8B4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATP8B4
    Human Genome Epidemiology (HuGE) Navigator: ATP8B4 (3 documents)

    Export disorders for ATP8B4 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 ATP8B4 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with ATP8B4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. (PubMed id 17998437)1, 4 Li H....Roses A.D. (Arch. Neurol. 2008)
    3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)1, 2 Zody M.C....Nusbaum C. (Nature 2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)
    6. Differential expression of putative transbilayer amphipath transporters. (PubMed id 11015572)1, 3 Halleck M.S.... Schlegel R.A. (Physiol. Genomics 1999)
    7. Translocation t(11;14) (q13;q32) and genomic imbalances in multi-ethnic multiple myeloma patients: a Malaysian study. (PubMed id 23087808)1 Ni I.B....Zakaria Z. (Hematol Rep 2012)
    8. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    9. FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. (PubMed id 12880872)1 Harris M.J. and Arias I.M. (Biochim. Biophys. Acta 2003)
    10. Insights into the bile acid transportation system: the human ileal lipid-binding protein-cholyltaurine complex and its comparison with homologous structures. (PubMed id 12486725)6 Kurz M....Kramer W. (Proteins 2003)

    (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: 79895 HGNC: 13536 AceView: ATP8B4 Ensembl:ENSG00000104043 euGenes: HUgn79895
    ECgene: ATP8B4 H-InvDB: ATP8B4

    (According to HUGE)
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    HUGE: KIAA1939

    (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 ATP8B4 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 ATP8B4 gene:
    Search GeneIP for patents involving ATP8B4

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



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