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

ABCB5 Gene

protein-coding   GIFtS: 62
GCID: GC07P020653

ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 5

  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 51 2     ABCB5beta2
P-Glycoprotein ABCB51 2 3     EST4225622
ATP-Binding Cassette Protein1 2     ATP-Binding Cassette Sub-Family B Member 52
ABCB5 P-Gp2 3     EC 3.6.38
ABCB5alpha2     EC 3.6.3.448

External Ids:    HGNC: 461   Entrez Gene: 3402732   Ensembl: ENSG000000048467   OMIM: 6117855   UniProtKB: Q2M3G03   

Export aliases for ABCB5 gene to outside databases

Previous GC identifers: GC07U990157 GC07P020328 GC07P020431 GC07P020412 GC07P020460 GC07P020544


(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 ABCB5 Gene:
ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These
proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from
small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 (PubMed
15760339)).(supplied by OMIM, Mar 2008)

GeneCards Summary for ABCB5 Gene: 
ABCB5 (ATP-binding cassette, sub-family B (MDR/TAP), member 5) is a protein-coding gene. Diseases associated with ABCB5 include crohn's disease, and obesity, and among its related super-pathways are ABC-family proteins mediated transport and SLC-mediated transmembrane transport. GO annotations related to this gene include efflux transmembrane transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB1.

UniProtKB/Swiss-Prot: ABCB5_HUMAN, Q2M3G0
Function: Plasma membrane transporter able to mediate efflux from cells of the rhodamine dye and of the
therapeutic drug doxorubicin. Responsible for the resistance to doxorubicin of a subset of malignant melanomas

summary for ABCB5 Gene:
P-glycoprotein (ABCB1, MDR1) is a well-characterized human ABC transporter that was the first ABC
transporter implicated in multidrug resistance. Normal physiological expression of P-glycoprotein has been
found to prevent uptake of some lipophilic drugs into the brain and other key organs. P-glycoprotein is
frequently overexpressed in cancer cells resulting in drugs being pumped out of the cells faster than they
can enter. This causes a lower concentration of the drug in the cell and reduces the effectiveness of the
drugs in killing cancer cells. Drugs that are affected by classical multidrug resistance include the vinca
alkaloids (vinblastine and vincristine), the anthracyclines (doxorubicin and daunorubicin), the RNA
transcription inhibitor actinomycin D and the microtubule-stabilizing drug taxol.

Gene Wiki entry for ABCB5 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_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABCB5 gene promoter:
         Nkx3-1   TBP   Nkx3-1 v4   Nkx3-1 v1   Nkx2-5   HNF-3beta   YY1   Nkx3-1 v2   Nkx3-1 v3   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ABCB5 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCB5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCB5


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

Entrez Gene cytogenetic band: 7p21.1   Ensembl cytogenetic band:  7p21.1   HGNC cytogenetic band: 7p14

ABCB5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCB5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P020653:  view genomic region     (about GC identifiers)

Start:
20,654,830 bp from pter      End:
20,816,658 bp from pter
Size:
161,829 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 20,706,592-20,847,927     

(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: ABCB5_HUMAN, Q2M3G0 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family B member 5  
Size: 812 amino acids; 89832 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Miscellaneous: Depletion of ABCB5 by RNAi increases the sensitivity to several drugs of a subset of melanoma cells
Caution: Was named ABCB1 by some authors
Sequence caution: Sequence=AAN76500.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAQ03033.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A4D131 A7BKA4 B5MD19 B7WPL1 F8QQP8 J3KQ04 Q2M3I5 Q5I5Q7 Q5I5Q8 Q6KG50
Q6XFQ5 Q8IXA1
Alternative splicing: 4 isoforms:  Q2M3G0-1   Q2M3G0-2   Q2M3G0-3   Q2M3G0-4   (Contains 1 extra ABC transmembrane type-1 domain)

Explore the universe of human proteins at neXtProt for ABCB5: NX_Q2M3G0

Explore proteomics data for ABCB5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q2M3G0

  • 4/8 DME Specific Peptides for ABCB5 (Q2M3G0) (see all 8)
     AHRLSTI  KILLLDE  QRIAIARA  PKILILDE 

    ABCB5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABCB5 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001157413.1  NP_001157414.1  NP_001157465.1  NP_848654.3  

    ENSEMBL proteins: 
     ENSP00000384881   ENSP00000406730   ENSP00000383899   ENSP00000258738   ENSP00000398692  
    Reactome Protein details: Q2M3G0
    Human Recombinant Protein Products for ABCB5: 
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    Novus Biologicals ABCB5 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ABCB5 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IBA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IDA12960149
    GO:0016021integral to membrane ----
    GO:0016324apical plasma membrane IBA--

    ABCB5 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for ABCB5


    (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: ABCB5 
    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 Q2M3G0

    ProtoNet protein and cluster: Q2M3G0

    UniProtKB/Swiss-Prot: ABCB5_HUMAN, Q2M3G0
    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 2 ABC transporter domains


    ABCB5 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:

         UniProtKB/Swiss-Prot Summary: ABCB5_HUMAN, Q2M3G0
    Function: Plasma membrane transporter able to mediate efflux from cells of the rhodamine dye and of the
    therapeutic drug doxorubicin. Responsible for the resistance to doxorubicin of a subset of malignant melanomas

         Genatlas biochemistry entry for ABCB5:
    ATP binding cassette superfamily,subfamily B (MDR/TAP),member 5,ubiquitously expressed

         Enzyme Numbers (IUBMB): EC 3.6.3.442 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:0005524ATP binding IEA--
    GO:0015562efflux transmembrane transporter activity IDA12960149
    GO:0016887ATPase activity ----
    GO:0017111nucleoside-triphosphatase activity ----
         
    ABCB5 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ABCB5:
     Increased Salmonella enterica   Increased viability after born  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABCB5 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABCB5 
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB5


    (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 ABCB5 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2        Reactome Pathways for ABCB5
        ABC-family proteins mediated transport
    Transmembrane transport of small molecules


    1         Kegg Pathway  (Kegg details for ABCB5):
        ABC transporters


    ABCB5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABCB5

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for ABCB5 (Q2M3G03 ENSP000002587384) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMB5P280743, ENSP000003553254I2D: score=1 STRING: ENSP00000355325
    ENSG00000239836ENSP000003968134STRING: ENSP00000396813
    --Q5JNW43I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0042391regulation of membrane potential IDA12960149
    GO:0055085transmembrane transport TAS--

    ABCB5 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

    Compounds for ABCB5 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PSC 833Inhibitor of P-gp-mediated MDR[121584-18-7]
    XR 9051 HClPotent modulator of P-gp-mediated MDR[180422-22-4]
    Ko 143Potent and selective BCRP inhibitor[461054-93-3]
    ProbenecidMRP inhibitor[57-66-9]
    Elacridar hydrochlorideP-gp inhibitor[143851-98-3]

    Search CenterWatch for drugs/clinical trials and news about ABCB5

    (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 ABCB5 gene (4 alternative transcripts): 
    NM_001163941.1  NM_001163942.1  NM_001163993.1  NM_178559.5  

    Unigene Cluster for ABCB5:

    ATP-binding cassette, sub-family B (MDR/TAP), member 5
    Hs.404102  [show with all ESTs]
    Unigene Representative Sequence: NM_001163941
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000404938(uc010kuh.3 uc003suw.4) ENST00000477094 ENST00000443026(uc003suv.4)
    ENST00000406935(uc011jyi.1) ENST00000258738(uc003sux.1) ENST00000441315

    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCB5 (see all 11):
    hsa-miR-577 hsa-miR-3650 hsa-miR-522 hsa-miR-4282 hsa-miR-224* hsa-miR-33a hsa-miR-4316 hsa-miR-633
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABCB5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABCB5
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABCB5

    Additional mRNA sequence: 

    AB353947.1 AF319622.1 AF399931.1 AK127141.1 AY090613.1 AY230001.1 AY234788.1 AY785909.1 
    AY851364.1 AY851365.1 BC044248.1 BC104894.1 BC104920.1 BC110370.1 BX537763.1 GU437216.1 
    GU437217.1 U66692.1 

    10 DOTS entries:

    DT.99941473  DT.320703  DT.108191  DT.121059155  DT.121059165  DT.101958082  DT.108190  DT.101970870 
    DT.201506  DT.40307081 

    24/29 AceView cDNA sequences (see all 29):

    AA243820 AL040762 AK127141 CR595059 H98200 AY090613 NM_178559 BX452500 
    AY234788 AF399931 AL040717 AF319622 AI289916 BM013981 BM016204 BX537763 
    BX463401 BC044248 BM471690 AL040763 N43802 BM926413 U66692 N24315 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ABCB5    About this scheme

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


    ECgene alternative splicing isoforms for ABCB5

    (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

    ABCB5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ABCB5 Expression
    About this image


    See ABCB5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCB5

    SOURCE GeneReport for Unigene cluster: Hs.404102

    UniProtKB/Swiss-Prot: ABCB5_HUMAN, Q2M3G0
    Tissue specificity: Expressed by CD133-expressing progenitor cells among epidermal melanocytes (at protein level).
    Widely expressed with specific expression in pigment cells. Also expressed in several malignant tissues

        SABiosciences Expression via Pathway-Focused PCR Array including ABCB5: 
              Drug Transporters in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCB5

    (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 ABCB5 gene from 9/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcb51 , 5 ATP-binding cassette, sub-family B (MDR/TAP), member more1, 5 82.34(n)1
    78.29(a)1
      12 (63.48 cM)5
    777061  NM_029961.21  NP_084237.11 
     1188678245 
    chicken
    (Gallus gallus)
    Aves --
    --
    --
    49(a)
    28(a)
    possible ortholog
    possible ortholog
    2(30202575-30240482)
    2(20547796-20573603)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    48(a)
    possible ortholog
    6(29308520-29374378)
    zebrafish
    (Danio rerio)
    Actinopterygii abcb56
    ATP-binding cassette, sub-family B (MDR/TAP), memb...
    47(a)
    possible ortholog
    16(21497823-21525694)
    fruit fly
    (Drosophila melanogaster)
    Insecta Mdr496
    Mdr506
    (see all 4)
    Multi drug resistance 50
    (see all 4)
    39(a)
    38(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    2R(8827828-8833850)
    2R(10134471-10140102)
    worm
    (Caenorhabditis elegans)
    Secernentea pgp-96
    pgp-26
    (see all 13)
    Protein PGP-2
    (see all 13)
    40(a)
    40(a)
    (see all 13)
    possible ortholog
    possible ortholog
    (see all 13)
    V(17755897-17764751)
    I(5886625-5895971)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes STE66
    Plasma membrane ATP-binding cassette (ABC) transpo...
    25(a)
    1 → many
    XI(42423-46295)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PGP141 ABC transporter B family member 14 49.07(n)
    39.11(a)
      839694  NM_102566.2  NP_174122.1 
    rice
    (Oryza sativa)
    Liliopsida Os.416372 Oryza sativa (japonica cultivar-group) putative multidrug more 72.04(n)    NM_192183.1 


    ENSEMBL Gene Tree for ABCB5 (if available)
    TreeFam Gene Tree for ABCB5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCB5 gene
    ABCB12  ABCB42  ABCB112  
    16 SIMAP similar genes for ABCB5 using alignment to 4 protein entries:     ABCB5_HUMAN (see all proteins):
    TAP1    ABCB1    MDR3    ABCB4    ABCB11    NG-TRA
    MDR1    ABCC10    DKFZp434I2115    CFTR    ABCB10    TAP2-G
    TAP2    ABCB8    LOC402251    ABCG2

    ABCB5 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

    10/3828 SNPs in ABCB5 are shown (see all 3828)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357314
    A colorectal cancer sample4--see VAR_0357312 E V mis40--------
    VAR_0626624
    A pancreatic ductal adenocarcinoma sample4--see VAR_0626622 A T mis40--------
    rs783452021,2
    C,F--20653245(+) ACCCAA/GATAGA 1 -- us2k12Minor allele frequency- G:0.26CSA WA 120
    rs126667321,2
    C,F,H--20653253(+) agataT/Cttttt 1 -- us2k111Minor allele frequency- C:0.24NS EA NA 1432
    rs1141216941,2
    F--20653406(+) CAGGGG/ATATGG 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs1479511331,2
    --20653408(+) GGGGTA/GTGGAA 1 -- us2k10--------
    rs762847671,2
    C,F--20653478(+) AGCATC/GAAGTT 1 -- us2k13Minor allele frequency- G:0.06NA 124
    rs1819431801,2
    --20653509(+) GAATTG/TCCATC 1 -- us2k10--------
    rs603052841,2
    C,F--20653511(+) ATTGCC/TATCTG 1 -- us2k11Minor allele frequency- T:0.45EA 120
    rs750428631,2
    F--20653711(+) TTTGTC/TATTTG 1 -- us2k11Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for ABCB5 (20654830 - 20816658 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for ABCB5 (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2734108CNV Deletion23290073
    esv2654247CNV Deletion19546169
    esv2734109CNV Deletion23290073
    esv2734107CNV Deletion23290073
    esv2306944CNV Deletion18987734
    esv2734105CNV Deletion23290073
    dgv1187e199CNV Deletion23128226
    esv2663031CNV Deletion23128226
    esv1003420CNV Deletion20482838
    esv2668344CNV Deletion23128226


    Human Gene Mutation Database (HGMD): ABCB5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCB5
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCB5

    (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: 611785    OMIM disorders: --

    7 diseases for ABCB5:    About MalaCards
    crohn's disease    obesity    pancreatic cancer    melanoma
    colorectal cancer    pancreatitis    leukemia

    1 disease from the University of Copenhagen DISEASES database for ABCB5:
    Melanoma

    ABCB5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ABCB5
    Human Genome Epidemiology (HuGE) Navigator: ABCB5 (1 document)

    Export disorders for ABCB5 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 ABCB5 gene, integrated from 9 sources (see all 34):
    (articles sorted by number of sources associating them with ABCB5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regulation of progenitor cell fusion by ABCB5 P-glycoprotein, a novel human ATP-binding cassette transporter. (PubMed id 12960149)1, 2, 3 Frank N.Y....Frank M.H. (2003)
    2. Expression of human ABCB5 confers resistance to taxane s and anthracyclines. (PubMed id 22306008)1, 2 Kawanobe T....Sugimoto Y. (2012)
    3. ABCB5 Identifies a Therapy-Refractory Tumor Cell Popu lation in Colorectal Cancer Patients. (PubMed id 21652540)1, 2 Wilson B.J....Frank N.Y. (2011)
    4. A genome-wide study reveals copy number variants excl usive to childhood obesity cases. (PubMed id 20950786)1, 4 Glessner J.T....Grant S.F. (2010)
    5. Principal expression of two mRNA isoforms (ABCB 5alpha and ABCB 5beta) of the ATP-binding cassette transporter gene ABCB 5 in melanoma cells and melanocytes. (PubMed id 15760339)1, 2 Chen K.G....Gottesman M.M. (2005)
    6. ABCB5-mediated doxorubicin transport and chemoresistance in human malignant melanoma. (PubMed id 15899824)1, 2 Frank N.Y.... Frank M.H. (2005)
    7. Membrane transporters and channels: role of the transportome in cancer chemosensitivity and chemoresistance. (PubMed id 15205344)1, 2 Huang Y.... Sadee W. (2004)
    8. 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. (2004)
    9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    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: 340273 HGNC: 46 AceView: ABCB5 Ensembl:ENSG00000004846 euGenes: HUgn340273
    ECgene: ABCB5 Kegg: 340273 H-InvDB: ABCB5

    (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 ABCB5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ABCB5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABCB5 gene:
    Search GeneIP for patents involving ABCB5

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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