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

ABCC11 Gene

protein-coding   GIFtS: 60
GCID: GC16M048249

ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 11

Microbiology & Infectious Diseases Congress
  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 C (CFTR/MRP), Member 111 2     ATP-Binding Cassette Protein C112
MRP82 3 5     ATP-Binding Cassette Sub-Family C Member 112
Multidrug Resistance-Associated Protein 82 3     ATP-Binding Cassette Transporter MRP82
EWWD2 5     ATP-Binding Cassette Transporter Sub-Family C Member 112
WW2 5     Multi-Resistance Protein 82

External Ids:    HGNC: 146391   Entrez Gene: 853202   Ensembl: ENSG000001212707   OMIM: 6070405   UniProtKB: Q96J663   

Export aliases for ABCC11 gene to outside databases

Previous GC identifers: GC16M038615 GC16M047938 GC16M047978 GC16M046758 GC16M034090


(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 ABCC11 Gene:
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC
proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven
distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This ABC full transporter is a member of the
MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological
processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is
responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be
derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript
variants have been described for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ABCC11 Gene: 
ABCC11 (ATP-binding cassette, sub-family C (CFTR/MRP), member 11) is a protein-coding gene. Diseases associated with ABCC11 include earwax, wet/dry, and colostrum secretion, variation in, 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 ATP binding. An important paralog of this gene is ABCC4.

UniProtKB/Swiss-Prot: ABCCB_HUMAN, Q96J66
Function: Participates in physiological processes involving bile acids, conjugated steroids and cyclic
nucleotides. Enhances the cellular extrusion of cAMP and cGMP. Stimulates the ATP-dependent uptake of a range of
physiological and synthetic lipophilic anions, including the glutathione S-conjugates leukotriene C4 and
dinitrophenyl S-glutathione, steroid sulfates such as dehydroepiandrosterone 3-sulfate (DHEAS) and estrone
3-sulfate, glucuronides such as estradiol 17-beta-D-glucuronide (E(2)17betaG), the monoanionic bile acids
glycocholate and taurocholate, and methotrexate. Probably functions to secrete earwax

Gene Wiki entry for ABCC11 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_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABCC11 gene promoter:
         ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ABCC11 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABCC11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCC11


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

Entrez Gene cytogenetic band: 16q12.1   Ensembl cytogenetic band:  16q12.1   HGNC cytogenetic band: 16q12

ABCC11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCC11 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M048249:  view genomic region     (about GC identifiers)

Start:
48,200,821 bp from pter      End:
48,281,479 bp from pter
Size:
80,659 bases      Orientation:
minus strand

(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: ABCCB_HUMAN, Q96J66 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family C member 11  
Size: 1382 amino acids; 154301 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: Q8TDJ0 Q96JA6 Q9BX80
Alternative splicing: 2 isoforms:  Q96J66-1   Q96J66-2   

Explore the universe of human proteins at neXtProt for ABCC11: NX_Q96J66

Explore proteomics data for ABCC11 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96J66

  • ABCC11 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABCC11 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_115972.2  NP_149163.2  NP_660187.1  

    ENSEMBL proteins: 
     ENSP00000311326   ENSP00000349017   ENSP00000378230   ENSP00000456268   ENSP00000378231  
     ENSP00000438530  
    Reactome Protein details: Q96J66
    Human Recombinant Protein Products for ABCC11: 
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    Cloud-Clone Corp. Proteins for ABCC11 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--

    ABCC11 for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCC11 
    ABCC 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 Q96J66

    ProtoNet protein and cluster: Q96J66

    UniProtKB/Swiss-Prot: ABCCB_HUMAN, Q96J66
    Similarity: Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208)
    subfamily
    Similarity: Contains 2 ABC transmembrane type-1 domains
    Similarity: Contains 2 ABC transporter domains


    ABCC11 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: ABCCB_HUMAN, Q96J66
    Function: Participates in physiological processes involving bile acids, conjugated steroids and cyclic
    nucleotides. Enhances the cellular extrusion of cAMP and cGMP. Stimulates the ATP-dependent uptake of a range of
    physiological and synthetic lipophilic anions, including the glutathione S-conjugates leukotriene C4 and
    dinitrophenyl S-glutathione, steroid sulfates such as dehydroepiandrosterone 3-sulfate (DHEAS) and estrone
    3-sulfate, glucuronides such as estradiol 17-beta-D-glucuronide (E(2)17betaG), the monoanionic bile acids
    glycocholate and taurocholate, and methotrexate. Probably functions to secrete earwax

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity ----
    GO:0017111nucleoside-triphosphatase activity ----
    GO:0042626ATPase activity, coupled to transmembrane movement of substances IEA--
         
    ABCC11 for ontologies           About GeneDecksing


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    (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 ABCC11 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 ABCC11
        ABC-family proteins mediated transport
    Transmembrane transport of small molecules


    1         Kegg Pathway  (Kegg details for ABCC11):
        ABC transporters


    ABCC11 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABCC11

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0055085transmembrane transport TAS--

    ABCC11 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

    ABCC11 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABCC11 (ABCCB)

    1 HMDB Compound for ABCC11    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    7 DrugBank Compounds for ABCC11    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cyclic Adenosine Monophosphate3'-5'-cyclic adenosine monophosphate (see all 5)60-92-4transportersubstrate inhibitor15537867 12764137
    Conjugated EstrogensEstrogens (see all 10)438-67-5transportersubstrate15537867
    Folic AcidFolate (see all 9)59-30-3transportersubstrate15537867
    IndomethacinIMN (see all 9)53-86-1transporterinhibitor15537867
    MethotrexateAmethopterin (see all 12)59-05-2transportersubstrate15537867
    Probenecid-- 57-66-9transporterinhibitor15537867
    Taurocholic Acid-- 81-24-3transporterinhibitor15537867

    6 Novoseek inferred chemical compound relationships for ABCC11 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adefovir 51 4 12764137 (2), 16868766 (1)
    5fluorouracil 49.9 16 17237272 (4), 18310281 (2), 12764137 (1), 17216005 (1)
    methotrexate 46.1 12 17237272 (2), 19248091 (1), 18310281 (1), 15537867 (1) (see all 5)
    dehydroepiandrosterone sulfate 40 5 16359813 (2), 15537867 (1)
    dhea 34.8 5 16868766 (2), 16359813 (1)
    iron 0 2 16410366 (1), 8336670 (1)

    Search CenterWatch for drugs/clinical trials and news about ABCC11 / ABCCB

    (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 ABCC11 gene (3 alternative transcripts): 
    NM_032583.3  NM_033151.3  NM_145186.2  

    Unigene Cluster for ABCC11:

    ATP-binding cassette, sub-family C (CFTR/MRP), member 11
    Hs.652267  [show with all ESTs]
    Unigene Representative Sequence: AY040219
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000565329(uc010cbg.1) ENST00000353782(uc010vgk.1 uc002efh.1)
    ENST00000356608 ENST00000394747(uc002eff.1) ENST00000569172 ENST00000567385
    ENST00000565487 ENST00000569991 ENST00000394748(uc002efg.1) ENST00000537808(uc010vgl.1)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF352582.1 AF367202.1 AF411579.1 AK301547.1 AL117406.1 AY040219.1 

    9 DOTS entries:

    DT.86846741  DT.97824116  DT.95249093  DT.97771477  DT.120721587  DT.97824115  DT.120721493  DT.120721449 
    DT.442910 

    24/26 AceView cDNA sequences (see all 26):

    BF924908 AL117406 NM_032583 NM_033151 AY040219 NM_145186 BF447217 BC039085 
    AF367202 AA412392 AF411579 AF352582 T81803 BE869517 BE089591 BI462847 
    W94983 AI676121 AI401832 BF760362 AW372856 AW372855 CD634784 T82135 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ABCC11    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^
    SP1:        -                             -                                                                                                                     
    SP2:        -                             -                                                                                                                     
    SP3:                                      -                                                                                                                     
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for ABCC11

    (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

    ABCC11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGAATAATT
    ABCC11 Expression
    About this image


    See ABCC11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCC11

    SOURCE GeneReport for Unigene cluster: Hs.652267

    UniProtKB/Swiss-Prot: ABCCB_HUMAN, Q96J66
    Tissue specificity: Expressed in many tissues. Not expressed in kidney, spleen and colon. Highly expressed in
    breast cancer. Expressed at moderate levels in normal breast and testis and at very low levels in liver, brain
    and placenta

        SABiosciences Expression via Pathway-Focused PCR Array including ABCC11: 
              Drug Transporters in human mouse rat

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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 ABCC11 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia LOC1008565711 ATP-binding cassette sub-family C member 11-like 81.44(n)
    75.49(a)
      100856571  XM_003638934.1  XP_003638982.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abcc126
    ATP-binding cassette, sub-family C (CFTR/MRP), mem...
    47(a)
    1 → many
    7(39550710-39575433)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YOR16
    Plasma membrane ATP-binding cassette (ABC) transpo...
    27(a)
    1 → many
    VII(1052824-1057257)
    barley
    (Hordeum vulgare)
    Liliopsida Hv.102352 Transcribed sequence with moderate similarity to protein more 67.69(n)    BQ469119.1 


    ENSEMBL Gene Tree for ABCC11 (if available)
    TreeFam Gene Tree for ABCC11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCC11 gene
    ABCC42  ABCC122  ABCC102  ABCC12  CFTR2  ABCC82  ABCC52  ABCC32  
    ABCC22  ABCC92  
    18/20 SIMAP similar genes for ABCC11 using alignment to 3 protein entries:     ABCCB_HUMAN (see all proteins) (see all similar genes):
    ABCC12    ABCB4    CFTR    TAP1    MOAT-B    DKFZp434I2115
    ABCC5    NG-TRA    ABC-transporter    ABCC2    ABCC4    ABCG2
    DKFZp781G125    ABCC9    ABCC1    ABCC3    ABCC8    MRP3

    ABCC11 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

    UniProtKB/Swiss-Prot: ABCCB_HUMAN, Q96J66
    Polymorphism: The allele with Arg-184 is responsible for the dry earwax phenotype [MIM:117800]. Human earwax is a
    Mendelian trait consisting of wet and dry types. The wet earwax is brownish and sticky, whereas the dry type
    lacks cerumen. The wet cerumen phenotype is completely dominant. The dry type is seen frequently (80-95%) among
    East Asians, but uncommon (0-3%) in populations of European and African origins. Intermediate frequencies
    (30-50%) of the dry type are seen in populations of Southern Asia, the Pacific Islands, Central Asia and Asia
    Minor, as well as among the Native North American and Inuit of Asian ancestry


    10/1605 SNPs in ABCC11 are shown (see all 1605)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs178229311,2,4
    C,F,Hpathogenic149273499(+) TGGCCC/TGAGTA 6 R G mis1 ese337Minor allele frequency- T:0.20NA NS MN EA WA EU 10919
    rs1426196031,2
    C,F--48200732(+) GATTGC/AGCCAC 3 -- ds50011Minor allele frequency- A:0.06--542
    rs620585201,2
    C,F--48202847(+) CTTAAT/CGCATG 3 -- int13Minor allele frequency- C:0.12NA 124
    rs1114593171,2
    C,F--48203550(+) GAAACT/CATCAC 3 -- int12Minor allele frequency- C:0.00CSA 2
    rs606010391,2
    C--48223345(+) TTTTT-/TCTGTT 3 -- int10--------
    rs1127623191,2
    F--48225752(+) GGGGGT/ACGGGG 3 -- int12Minor allele frequency- A:0.00CSA 2
    rs612470321,2
    C--48231223(+) ACCAAG/-ACTCT 3 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs673593261,2
    C--48231224(+) CCAAA-/GCTCTG 3 -- int10--------
    rs58165891,2
    C--48239723(+) ttttt-/T/TT  
            
    ttttt
    3 -- int1 trp30--------
    rs713902631,2
    C--48241770(-) TCTGGCAGT    
       GGG
    /-
    GTACC
    3 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for ABCC11 (48200821 - 48281479 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ABCC11:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv827641CNV Gain20364138


    Human Gene Mutation Database (HGMD): ABCC11
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCC11
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCC11

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607040   
    OMIM disorders: 117800  
    19 diseases for ABCC11:    About MalaCards
    earwax, wet/dry    colostrum secretion, variation in    axillary odor, variation in    dubin-johnson syndrome
    patent ductus arteriosus    dengue hemorrhagic fever    hemorrhagic fever    laryngeal squamous cell carcinoma
    acute myeloid leukemia    laryngitis    type 1 diabetes    myeloid leukemia
    breast cancer    rheumatoid arthritis    arthritis    pancreatitis
    leukemia    squamous cell carcinoma    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for ABCC11:
    Dubin-Johnson syndrome

    ABCC11 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ABCC11 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 19.2 2 18310281 (5), 11591886 (2), 19383836 (1), 19248091 (1)

    Genetic Association Database (GAD): ABCC11
    Human Genome Epidemiology (HuGE) Navigator: ABCC11 (6 documents)

    Export disorders for ABCC11 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 ABCC11 gene, integrated from 9 sources (see all 59):
    (articles sorted by number of sources associating them with ABCC11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MRP8, ATP-binding cassette C11 (ABCC11), is a cyclic nucleotide efflux pump and a resistance factor for fluoropyrimidines 2',3'- dideoxycytidine and 9'-(2'-phosphonylmethoxyethyl)adenine. (PubMed id 12764137)1, 2, 7, 9 Guo Y....Kruh G.D. (2003)
    2. Transport of bile acids, sulfated steroids, estradiol 17-beta-D- glucuronide, and leukotriene C4 by human multidrug resistance protein 8 (ABCC11). (PubMed id 15537867)1, 2, 7, 9 Chen Z.S.... Kruh G.D. (2005)
    3. Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12. (PubMed id 11483364)1, 2, 3, 9 Tammur J....Allikmets R. (2001)
    4. Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12. (PubMed id 11688999)1, 2, 9 Yabuuchi H.... Ishikawa T. (2001)
    5. MRP8, a new member of ABC transporter superfamily, identified by EST database mining and gene prediction program, is highly expressed in breast cancer. (PubMed id 11591886)1, 2, 9 Bera T.K.... Pastan I.H. (2001)
    6. A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene. (PubMed id 19650936)1, 4, 9 Nakano M....Niikawa N. (2009)
    7. A SNP in the ABCC11 gene is the determinant of human earwax type. (PubMed id 16444273)1, 2, 9 Yoshiura K.... Niikawa N. (2006)
    8. Japanese map of the earwax gene frequency: a nationwi de collaborative study by Super Science High School Consortium. (PubMed id 19644513)1, 4, 9 (2009)
    9. Correlation of axillary osmidrosis to a SNP in the AB CC11 gene determined by the Smart Amplification Process (SmartAmp) method. (PubMed id 19625231)1, 4 Inoue Y....Sakai Y. (2010)
    10. Association between breast cancer risk and the wild-t ype allele of human ABC transporter ABCC11. (PubMed id 21187511)1, 4 Ota I....Shimada H. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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: 85320 HGNC: 14639 AceView: ABCC11 Ensembl:ENSG00000121270 euGenes: HUgn85320
    ECgene: ABCC11 Kegg: 85320 H-InvDB: ABCC11

    (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 ABCC11 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ABCC11 Genetics and Cytogenetics in Oncology and Haematology
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt067.shtml
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q96J66

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABCC11 gene:
    Search GeneIP for patents involving ABCC11

    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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