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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABCB8 Gene

protein-coding   GIFtS: 64
GCID: GC07P150725

ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 8

  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)
About This Section

Aliases
ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 81 2     M-ABC12 3
MABC12 3 5     EST3281282
Mitochondrial ABC Protein1 2     ATP-Binding Cassette Sub-Family B Member 8, Mitochondrial2
Mitochondrial ATP-Binding Cassette 12 3     EC 3.6.38

External Ids:    HGNC: 491   Entrez Gene: 111942   Ensembl: ENSG000001971507   OMIM: 6054645   UniProtKB: Q9NUT23   

Export aliases for ABCB8 gene to outside databases

Previous GC identifers: GC07P148972 GC07P150040 GC07P150117 GC07P150164 GC07P150356 GC07P144537


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ABCB8 Gene:
This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The
encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules
out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron
homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Aug 2013)

GeneCards Summary for ABCB8 Gene: 
ABCB8 (ATP-binding cassette, sub-family B (MDR/TAP), member 8) is a protein-coding gene. Diseases associated with ABCB8 include acute myeloid leukemia, and myeloid leukemia, and among its related super-pathways are ABC-family proteins mediated transport and SLC-mediated transmembrane transport. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances and transporter activity. An important paralog of this gene is TAP2.

Gene Wiki entry for ABCB8 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007914.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABCB8 gene promoter:
         USF1   Lmo2   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Arnt   E47   AREB6   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ABCB8 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCB8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCB8


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

Entrez Gene cytogenetic band: 7q36   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q36.1

ABCB8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCB8 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P150725:  view genomic region     (about GC identifiers)

Start:
150,725,510 bp from pter      End:
150,744,869 bp from pter
Size:
19,360 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 150,055,049-150,074,408     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ABCB8_HUMAN, Q9NUT2 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family B member 8, mitochondrial precursor  
Size: 735 amino acids; 79989 Da
Subunit: Monomer (Potential)
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: B2RBL8 O95787 Q53GM0
Alternative splicing: 2 isoforms:  Q9NUT2-1   Q9NUT2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ABCB8: NX_Q9NUT2

Explore proteomics data for ABCB8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NUT2

  • 2 DME Specific Peptides for ABCB8 (Q9NUT2)
     VIAHRLST  IAHRLSTVR 

    ABCB8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABCB8 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001269220.1  NP_001269221.1  NP_001269222.1  NP_009119.2  

    ENSEMBL proteins: 
     ENSP00000417563   ENSP00000351717   ENSP00000419014   ENSP00000418970   ENSP00000420216  
     ENSP00000297504   ENSP00000420631   ENSP00000418271   ENSP00000419891   ENSP00000419558  
     ENSP00000418316   ENSP00000420162   ENSP00000438776   ENSP00000348353  
    Reactome Protein details: Q9NUT2
    Human Recombinant Protein Products for ABCB8: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals ABCB8 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCB8 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005739mitochondrion IDA--
    GO:0005740mitochondrial envelope TAS9878413
    GO:0005743mitochondrial inner membrane IEA--

    ABCB8 for ontologies           About GeneDecksing



    ABCB8 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for ABCB8 

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    Cloud-Clone Corp. CLIAs for ABCB8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ABCB: ATP binding cassette transporters / subfamily B

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCB8 
    ABCB subfamily

    5/7 InterPro protein domains (see all 7):
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR017940 ABC_transporter_type1

    Graphical View of Domain Structure for InterPro Entry Q9NUT2

    ProtoNet protein and cluster: Q9NUT2

    UniProtKB/Swiss-Prot: ABCB8_HUMAN, Q9NUT2
    Similarity: Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201)
    subfamily
    Similarity: Contains 1 ABC transmembrane type-1 domain
    Similarity: Contains 1 ABC transporter domain


    ABCB8 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:
         Genatlas biochemistry entry for ABCB8:
    ATP binding cassette superfamily,subfamily B (MDR/TAP),member 8,ubiquitously expressed,located in mitochondrial
    inner membrane

         Enzyme Number (IUBMB): EC 3.6.32

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005215transporter activity TAS9878413
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity ----
    GO:0017111nucleoside-triphosphatase activity ----
         
    ABCB8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ABCB8:
     Lamellipodia cells 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abcb8):
     cardiovascular system  homeostasis/metabolism  muscle 

    ABCB8 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABCB8 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ABCB8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCB8 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABCB8 

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCB8:
    hsa-miR-3176 hsa-miR-3922-3p
    SwitchGear 3'UTR luciferase reporter plasmidABCB8 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB8


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABCB8 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.70
    ABC transporters0.70
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    3Mitochondrial ABC transporters
    Mitochondrial ABC transporters

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for ABCB8
        ABC-family proteins mediated transport
    Transmembrane transport of small molecules
    Mitochondrial ABC transporters


    1         Kegg Pathway  (Kegg details for ABCB8):
        ABC transporters


    ABCB8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABCB8

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

    5/9 Interacting proteins for ABCB8 (Q9NUT22, 3 ENSP000003517174) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SAT1P216732, 3MINT-63584 I2D: score=5 
    NOA1Q8NC602, 3MINT-65638 I2D: score=4 
    YWHABP319463I2D: score=1 
    ABCA2ENSP000003441554STRING: ENSP00000344155
    ABCA7ENSP000002630944STRING: ENSP00000263094
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS9878413
    GO:0055085transmembrane transport IBA--

    ABCB8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABCB8

    1 DrugBank Compound for ABCB8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DoxorubicinAdria (see all 4)23214-92-8transportersubstrate19147539

    Search CenterWatch for drugs/clinical trials and news about ABCB8

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ABCB8 gene (4 alternative transcripts): 
    NM_001282291.1  NM_001282292.1  NM_001282293.1  NM_007188.4  

    Unigene Cluster for ABCB8:

    ATP-binding cassette, sub-family B (MDR/TAP), member 8
    Hs.647118  [show with all ESTs]
    Unigene Representative Sequence: NM_007188
    18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000461373 ENST00000358849(uc003wil.4 uc010lpx.3 uc011kvd.2 uc003wim.4 uc003wik.4)
    ENST00000482309 ENST00000488826 ENST00000489192 ENST00000471796 ENST00000462605
    ENST00000466956 ENST00000470645(uc010lpw.1) ENST00000297504 ENST00000466514
    ENST00000498578 ENST00000477719 ENST00000477092 ENST00000472698 ENST00000488370
    ENST00000488551 ENST00000469410
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCB8:
    hsa-miR-3176 hsa-miR-3922-3p
    SwitchGear 3'UTR luciferase reporter plasmidABCB8 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCB8
    Sirion Biotech Customized lentivirus for stable overexpression of ABCB8 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABCB8
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCB8

    Additional mRNA sequence: 

    AF047690.1 AF086382.1 AK002018.1 AK024401.1 AK094005.1 AK094636.1 AK222911.1 AK294344.1 
    AK310796.1 AK314721.1 AL117497.1 BC141814.1 BC141836.1 BC151235.1 U66688.1 

    21 DOTS entries:

    DT.100795794  DT.310230  DT.112092  DT.100795799  DT.101984506  DT.91750226  DT.100795798  DT.100028068 
    DT.121101666  DT.95376252  DT.100795797  DT.92426830  DT.121101698  DT.100795791  DT.102831874  DT.121101754 
    DT.102831873  DT.121101669  DT.121101676  DT.121101688  DT.121101685 

    24/204 AceView cDNA sequences (see all 204):

    BM703142 AI420480 BU527147 CR595185 BQ678344 BQ676865 BM833675 AF195024 
    CB129709 BM552265 AK128129 BU625433 BM463415 CR616094 BI769361 BI490066 
    BU155892 BM930206 AK094005 CR599833 AK126885 BM704396 BM664643 BQ718758 

    GeneLoc Exon Structure

    5/27 Alternative Splicing Database (ASD) splice patterns (SP) for ABCB8 (see all 27)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7a · 7b · 7c ^
    SP1:                          -     -     -     -     -     -           -     -     -     -     -     -     -                                                   
    SP2:                          -     -     -     -     -     -     -     -     -     -     -     -     -     -                 -                                 
    SP3:                          -     -     -     -     -     -     -     -     -     -     -     -     -     -                                                   
    SP4:                          -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                     
    SP5:                                                                                                                                                            

    ExUns: 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c ^
    SP1:                                                        -     -     -     -                 -                                                               
    SP2:                                                        -     -     -     -                 -                                                               
    SP3:                                                        -     -     -     -                 -                                                               
    SP4:                                                        -     -     -     -                 -                                                               
    SP5:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b · 32c
    SP1:                                                                              
    SP2:                                                                              
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                              -               


    ECgene alternative splicing isoforms for ABCB8

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABCB8 expression in normal human tissues (normalized intensities)      ABCB8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ABCB8 Expression
    About this image


    ABCB8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract

    See ABCB8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCB8

    SOURCE GeneReport for Unigene cluster: Hs.647118

    UniProtKB/Swiss-Prot: ABCB8_HUMAN, Q9NUT2
    Tissue specificity: Ubiquitous

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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ABCB8 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcb81 , 5 ATP-binding cassette, sub-family B (MDR/TAP), member more1, 5 82.89(n)1
    84.38(a)1
      5 (11.57 cM)5
    746101  NM_029020.21  NP_083296.21 
     243936635 
    lizard
    (Anolis carolinensis)
    Reptilia ABCB86
    ATP-binding cassette, sub-family B (MDR/TAP), memb...
    57(a)
    1 ↔ 1
    GL343907.1(115196-131468)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.184752 Transcribed sequence with moderate similarity to protein more 74.02(n)    BG303035.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG102263
    CG18241
    multidrug transporter3
    CG18241
    54(a)
    (best of 2)3
    56.88(n)1
    53.19(a)1
      65A103
    322081  NM_132582.21  NP_572810.11 
    worm
    (Caenorhabditis elegans)
    Secernentea haf-61 Protein HAF-6 53.78(n)
    51.3(a)
      171694  NM_058427.4  NP_490828.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MDL16
    MDL26
    Mitochondrial inner membrane half-type ATP-binding...
    Mitochondrial inner membrane half-type ATP-binding...
    28(a)
    26(a)
    many ↔ many
    many ↔ many
    XII(528300-530387)
    XVI(30482-32803)
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.63722 Vitis vinifera transcribed sequence with moderate similarity more 68.98(n)    CB979583.1 
    barley
    (Hordeum vulgare)
    Liliopsida AB063580.12   -- 73.12(n)    AB063580.1 


    ENSEMBL Gene Tree for ABCB8 (if available)
    TreeFam Gene Tree for ABCB8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCB8 gene
    TAP22  ENSG000002502642  ABCB102  ABCB92  TAP12  
    15 SIMAP similar genes for ABCB8 using alignment to 13 protein entries:     ABCB8_HUMAN (see all proteins):
    ABCB4    NG-TRA    TAP1    MDR1    ABCB10    TAP2-G
    ABCB1    DKFZp434I2115    TAP2    ABCB11    ABCB9    ABCB5
    ABCG2    ABCB6    ABC-transporter

    ABCB8 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/567 SNPs in ABCB8 are shown (see all 567)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357344
    A breast cancer sample4--see VAR_0357342 A G mis40--------
    VAR_0357334
    A breast cancer sample4--see VAR_0357332 I T mis40--------
    rs734725831,2
    C--150723730(+) TTCTCG/ATTGAC 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs784682171,2
    C,F--150723897(+) ACAGGG/CAAGAA 1 -- us2k11Minor allele frequency- C:0.03EA 120
    rs1428424731,2
    C--150723908(+) ACGAG-/TGGTGC 1 -- us2k10--------
    rs1819040191,2
    --150723973(+) TCTGCA/GAGGCA 1 -- us2k10--------
    rs1155238051,2
    F--150723994(+) AGGCCG/ACGCCT 1 -- us2k11Minor allele frequency- A:0.02WA 118
    rs1449037331,2
    --150724071(+) ATCACC/TGGGGG 1 -- us2k10--------
    rs1865211851,2
    --150724075(+) CCGGGA/GGAGTT 1 -- us2k10--------
    rs603680171,2
    C,F--150724077(+) GGGGGA/TGTTCT 1 -- us2k13Minor allele frequency- T:0.06WA NA EA 358

    HapMap Linkage Disequilibrium report for ABCB8 (150725510 - 150744869 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for ABCB8 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv7546n71CNV Loss21882294
    nsv889475CNV Loss21882294
    nsv889477CNV Loss21882294
    nsv889465CNV Loss21882294
    nsv526410CNV Loss19592680
    nsv889471CNV Loss21882294
    nsv831188CNV Loss17160897
    dgv7545n71CNV Loss21882294
    nsv889476CNV Loss21882294
    nsv889469CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605464    OMIM disorders: --

    5 diseases for ABCB8:    About MalaCards
    acute myeloid leukemia    myeloid leukemia    tuberculosis    melanoma
    leukemia


    ABCB8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ABCB8
    Human Genome Epidemiology (HuGE) Navigator: ABCB8 (6 documents)

    Export disorders for ABCB8 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)
    About This Section

    PubMed articles for ABCB8 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with ABCB8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a mammalian mitochondrial ATP- binding cassette membrane protein. (PubMed id 9878413)1, 2, 9 Hogue D.L.... Ling V. (1999)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. ABCB8 mediates doxorubicin resistance in melanoma cells by protecting the mitochondrial genome. (PubMed id 19147539)1, 7 Elliott A.M. and Al-Hajj M.A. (2009)
    6. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (2009)
    7. Targeting of the mitochondrial membrane proteins to the cell surface for functional studies. (PubMed id 16259955)1, 2 Ardehali H.... Machamer C. (2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population. (PubMed id 11829140)1, 2 Saito S.... Nakamura Y. (2002)
    10. Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. (PubMed id 8894702)1, 3 Allikmets R....Dean M. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 11194 HGNC: 49 AceView: ACCN3andABCB8 Ensembl:ENSG00000197150 euGenes: HUgn11194
    ECgene: ABCB8 Kegg: 11194 H-InvDB: ABCB8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABCB8 Pharmacogenomics, SNPs, Pathways
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9NUT2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABCB8 gene:
    Search GeneIP for patents involving ABCB8

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



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