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ABCC6 Gene

protein-coding   GIFtS: 67
GCID: GC16M016243

ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 6

(Previous name: pseudoxanthoma elasticum)
(Previous symbols: ARA, PXE)
  See ABCC6-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
ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 61 2     GACI22 5
ARA1 2 3 5     MLP12 5
PXE1 2 5     Pseudoxanthoma Elasticum1
Anthracycline Resistance-Associated Protein2 3     EST3490562
Multi-Specific Organic Anion Transporter E2 3     MOATE2
MOAT-E2 3     PXE12
MRP62 3     URG72
ATP-Binding Cassette Sub-Family C Member 62 3     Multidrug Resistance-Associated Protein 62
ABC342 5     

External Ids:    HGNC: 571   Entrez Gene: 3682   Ensembl: ENSG000000912627   OMIM: 6032345   UniProtKB: O952553   

Export aliases for ABCC6 gene to outside databases

Previous GC identifers: GC16M016071 GC16M015526 GC16M016210 GC16M016151 GC16M015637


(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 ABCC6 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). The encoded protein, a member of the MRP
subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum.
Alternatively spliced transcript variants that encode different proteins have been described for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for ABCC6 Gene:
ABCC6 (ATP-binding cassette, sub-family C (CFTR/MRP), member 6) is a protein-coding gene. Diseases associated with ABCC6 include pseudoxanthoma elasticum, and angioid streaks. 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 ABCC4.

UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255
Function: May participate directly in the active transport of drugs into subcellular organelles or influence drug
distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide
S-glutathione (NEM-GS)

Gene Wiki entry for ABCC6 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NT_187607.1  NC_000016.9  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABCC6 gene promoter:
         GR   Elk-1   AML1a   Sp1   Lmo2   GATA-1   c-Ets-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABCC6 promoter sequence
   Search Chromatin IP Primers for ABCC6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCC6


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

Entrez Gene cytogenetic band: 16p13.1   Ensembl cytogenetic band:  16p13.11   HGNC cytogenetic band: 16p13.11

ABCC6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCC6 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M016243:  view genomic region     (about GC identifiers)

Start:
16,242,785 bp from pter      End:
16,317,379 bp from pter
Size:
74,595 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255 (See protein sequence)
Recommended Name: Multidrug resistance-associated protein 6  
Size: 1503 amino acids; 164906 Da
Sequence caution: Sequence=AAC15785.1; Type=Erroneous gene model prediction;
Secondary accessions: P78420 Q8TCY8 Q9UMZ7
Alternative splicing: 2 isoforms:  O95255-1   O95255-2   (Gene prediction based on EST data. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for ABCC6: NX_O95255

Explore proteomics data for ABCC6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn15
  • Modification sites at PhosphoSitePlus

  • See ABCC6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001072996.1  NP_001162.4  

    ENSEMBL proteins: 
     ENSP00000205557   ENSP00000405002   ENSP00000459243   ENSP00000461686  
    Reactome Protein details: O95255

    ABCC6 Human Recombinant Protein Products:

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: ABCC6
    ABCC subfamily

    Selected InterPro protein domains (see all 7):
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR011527 ABC1_TM_dom

    Graphical View of Domain Structure for InterPro Entry O95255

    ProtoNet protein and cluster: O95255

    UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255
    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


    Find genes that share domains with ABCC6           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: MRP6_HUMAN, O95255
    Function: May participate directly in the active transport of drugs into subcellular organelles or influence drug
    distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide
    S-glutathione (NEM-GS)

         Genatlas biochemistry entry for ABCC6:
    ATP binding cassette superfamily,subfamily C (CFTR/MRP),member 6,expressed in normal hematopoietic precursors

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005215transporter activity TAS8912525
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity ----
    GO:0017111nucleoside-triphosphatase activity ----
         
    Find genes that share ontologies with ABCC6           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ABCC6:
     Decreased influenza A/WSN/33 r 

         6 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Abcc6):
     cardiovascular system  homeostasis/metabolism  integument  other  renal/urinary system 
     vision/eye 

    Find genes that share phenotypes with ABCC6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ABCC6: Abcc6tm1Jfk Abcc6tm1Aabb

       genOway: Develop your customized and physiologically relevant rodent model for ABCC6

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    SwitchGear 3'UTR luciferase reporter plasmidABCC6 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MRP6_HUMAN, O95255: Basolateral cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0016323basolateral plasma membrane IEA--
    GO:0016324apical plasma membrane IEA--

    Find genes that share ontologies with ABCC6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABCC6 About    
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.69
    ABC transporters0.69
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47


    Find genes that share SuperPaths with ABCC6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ABCC6
        ABC-family proteins mediated transport


    1 Kegg Pathway  (Kegg details for ABCC6):
        ABC transporters

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ABCC6
    Interactions:

        GeneGlobe Interaction Network for ABCC6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for ABCC6 (O952553 ENSP000002055574) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VCLP182063I2D: score=1 
    KCNJ11ENSP000003457084STRING: ENSP00000345708
    A1BGENSP000002631004STRING: ENSP00000263100
    AK2ENSP000003469214STRING: ENSP00000346921
    CRYL1ENSP000002982484STRING: ENSP00000298248
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process ----
    GO:0006810transport TAS8912525
    GO:0007601visual perception IEA--
    GO:0042493response to drug TAS8912525
    GO:0055085transmembrane transport TAS--

    Find genes that share ontologies with ABCC6           About GenesLikeMe



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

    Browse Tocris compounds for ABCC6 (MRP6)

    10 DrugBank Compounds for ABCC6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DoxorubicinAdria (see all 4)23214-92-8transportersubstrate inhibitor12069597 12414644
    EtoposideEPEG (see all 4)33419-42-0transportersubstrate inhibitor12069597 12414644
    CisplatinCDDP (see all 7)15663-27-1transportersubstrate12414644
    DactinomycinActD (see all 6)50-76-0transportersubstrate12414644
    Daunorubicin-- 20830-81-3transportersubstrate12414644
    IndomethacinIMN (see all 9)53-86-1transporterinhibitor11880368
    Probenecid-- 57-66-9transporterinhibitor11880368
    SulfinpyrazoneDiphenylpyrazone (see all 6)57-96-5transporterinhibitor12527806
    TeniposideTeniposido [INN-Spanish] (see all 2)29767-20-2transportersubstrate12414644
    Vinblastine-- 865-21-4transporterinhibitor12069597

    9 Novoseek inferred chemical compound relationships for ABCC6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    benzbromarone 67.4 1 11880368 (1)
    mk 571 54.7 2 14667841 (1)
    probenecid 28.7 1 11880368 (1)
    glucuronic acid 21.3 2 12414644 (1)
    atp 19.5 15 15894595 (2), 11880368 (2), 10913334 (1), 17617515 (1) (see all 5)
    methotrexate 2.62 1 19177904 (1)
    indomethacin 1.9 1 11880368 (1)
    agarose 0 1 15727254 (1)
    lipid 0 1 16835894 (1)

    2 PharmGKB related drug/compound annotations for ABCC6 gene    About this table
    Drug/compound PharmGKB Annotation
    docetaxelCA  
    thalidomideCA  



    Find genes that share compounds with ABCC6           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ABCC6 gene (2 alternative transcripts): 
    NM_001079528.3  NM_001171.5  

    Unigene Cluster for ABCC6:

    ATP-binding cassette, sub-family C (CFTR/MRP), member 6
    Hs.442182  [show with all ESTs]
    Unigene Representative Sequence: NM_001171
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000205557(uc002den.4 uc010bvo.3) ENST00000576204 ENST00000456970
    ENST00000576683 ENST00000574094(uc010uzz.1) ENST00000577103 ENST00000575728(uc002deo.4)

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    Additional mRNA sequence: 

    AF076622.1 AF168791.1 AK298295.1 AM774324.1 AY078405.1 BC050733.1 BC131732.1 U66689.1 

    6 DOTS entries:

    DT.100748629  DT.112058  DT.100836282  DT.97770455  DT.100889165  DT.453296 

    14 AceView cDNA sequences:

    AI830055 AI631807 R99091 BI830076 BX283084 BV203038 AW235625 BC015978 
    BQ181437 BF334136 R99635 BF105026 AI935444 H94400 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ABCC6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGACTCTTG
    ABCC6 Expression
    About this image

    ABCC6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCC6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.442182

    UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255
    Tissue specificity: Expressed in kidney and liver. Very low expression in other tissues

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    In Situ
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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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ABCC6 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcc61 , 5 ATP-binding cassette, sub-family C (CFTR/MRP), member more1, 5 80.94(n)1
    79.77(a)1
      7 (29.64 cM)5
    274211  NM_018795.21  NP_061265.21 
     459763805 
    chicken
    (Gallus gallus)
    Aves ABCC61 ATP-binding cassette, sub-family C (CFTR/MRP), member more 60.05(n)
    54.78(a)
      416600  NM_001252080.1  NP_001239009.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABCC66
    ATP-binding cassette, sub-family C (CFTR/MRP), mem...
    53(a)
    1 ↔ 1
    GL343580.1(215255-261394)
    zebrafish
    (Danio rerio)
    Actinopterygii ABCC66
    ATP-binding cassette, sub-family C (CFTR/MRP), mem...
    27(a)
    1 ↔ 1
    14(24523760-24564808) ENSDARG00000076547
    worm
    (Caenorhabditis elegans)
    Secernentea C18C4.23 trans-membrane protein 23(a)   V(5541395-5548247)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YCF16
    Vacuolar glutathione S-conjugate transporter; memb...
    33(a)
    1 → many
    IV(723004-727551) YDR135C


    ENSEMBL Gene Tree for ABCC6 (if available)
    TreeFam Gene Tree for ABCC6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCC6 gene
    ABCC42  ABCC122  ABCC12  ABCC82  ABCC52  ABCC32  ABCC22  ABCC92  
    ABCC112  
    Selected SIMAP similar genes for ABCC6 using alignment to 6 protein entries:     MRP6_HUMAN (see all proteins) (see all similar genes):
    ara    ABCB4    TAP1    DKFZp781G125    ABCC1    DKFZp434I2115
    NG-TRA    MRP3    ABCC3    ABCC2    CFTR    MRP
    MOAT-B    ABCC4    ABCC9    ABCC12    ABCC5    ABCC10

    Find genes that share paralogs with ABCC6           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ABCC6
    PGOHUM00000262274 PGOHUM00000249003


    (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 ABCC6 (see all 2267)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs725475241,2,,4
    CPseudoxanthoma elasticum (PXE)4 pathogenic116277805(+) CAGGCA/GGTGGG 2 R C mis10--------
    rs637502951,2,,4
    CPseudoxanthoma elasticum (PXE)4 untested116277909(-) CCTCAC/TCCTGG 2 T I mis10--------
    rs637512411,2,,4
    CPseudoxanthoma elasticum (PXE)4 untested116281839(-) GAGGCA/GAGGAC 2 K E mis10--------
    rs586953521,2,,4
    CPseudoxanthoma elasticum (PXE)4 untested116281956(+) CAGGTC/TGAGGT 2 N D mis11Minor allele frequency- T:0.00--354
    rs637500181,2,,4
    CPseudoxanthoma elasticum (PXE)4 untested116281977(-) TCCCTC/GGCTCT 2 R G mis10--------
    rs637506221,2,,4
    CPseudoxanthoma elasticum (PXE)4 untested116282099(-) ACTGCA/G/TCTCCA 3 H R L mis10--------
    rs289397021,2,,4
    CPseudoxanthoma elasticum (PXE)4 pathogenic116282100(-) CACTGA/C/TGCTCC 2 R C mis1 ese32NA 4
    rs637504141,2,,4
    CPseudoxanthoma elasticum (PXE)4 untested116282111(-) GGGGCA/C/TGCACA 3 Q P L mis10--------
    rs637498231,2,,4
    CPseudoxanthoma elasticum (PXE)4 pathogenic116282154(-) CTGAGA/GGTGGG 2 S G mis10--------
    rs637507591,2,,4
    C,FPseudoxanthoma elasticum (PXE)4 pathogenic116282175(-) TGCTGC/TGGCTC 2 R W mis11Minor allele frequency- T:0.00NA 2588

    HapMap Linkage Disequilibrium report for ABCC6 (16242785 - 16317379 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABCC6 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1100706CNV Deletion17803354
    nsv435664CNV Deletion17901297
    esv2714015CNV Deletion23290073
    esv2714028CNV Deletion23290073
    esv1081882CNV Insertion17803354
    nsv428319CNV Loss18775914
    nsv905423CNV Loss21882294
    esv34006CNV Loss18971310
    nsv905414CNV Loss21882294
    dgv2616n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): ABCC6
    Locus Specific Mutation Databases (LSDB): ABCC6

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603234   
    OMIM disorders: 264800  177850  614473  
    UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255
  • Pseudoxanthoma elasticum (PXE) [MIM:264800]: A multisystem disorder characterized by accumulation of
    mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically,
    patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid
    streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular
    pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with
    peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. Note=The disease is
    caused by mutations affecting the gene represented in this entry. Homozygous or compound heterozygous ABCC6
    mutations have been found in the overwhelming majority of cases. Individuals carrying heterozygous mutations
    express limited manifestations of the pseudoxanthoma elasticum phenotype
  • Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]: A severe autosomal recessive
    disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to
    myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial
    ischemia resulting in refractory heart failure. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 11 diseases for ABCC6:    
    About MalaCards
    pseudoxanthoma elasticum    angioid streaks    acquired pseudoxanthoma elasticum    arterial calcification, generalized, of infancy, 2
    pseudoxanthoma elasticum, forme fruste    elastosis perforans serpiginosa    left ventricular noncompaction 9    arterial calcification, generalized, of infancy, 1
    arterial calcification of infancy    pseudoxanthoma elasticum, modifier of severity of    dubin-johnson syndrome

    4 diseases from the University of Copenhagen DISEASES database for ABCC6:
    Pseudoxanthoma elasticum     Angioid streaks     Generalized arterial calcification of infancy     Dubin-Johnson syndrome

    Find genes that share disorders with ABCC6           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ABCC6 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudoxanthoma elasticum 98.8 98 11536079 (2), 15459974 (2), 16604369 (2), 11439001 (2) (see all 69)
    angioid streaks 90.5 5 19284998 (1), 17134037 (1), 12271376 (1), 14694786 (1)
    heritable connective tissue disorder 88.2 3 15086542 (1), 16571645 (1), 16374464 (1)
    genetic disorder 72.8 8 15459974 (1), 19891925 (1), 15760889 (1), 12810839 (1) (see all 7)
    calcification 69.2 15 18469514 (1), 16763870 (1), 16543900 (1), 16261549 (1) (see all 11)
    metabolic disorder 50.2 6 18469514 (1), 17134037 (1), 11493310 (1), 15894595 (1) (see all 5)
    connective tissue diseases 45.8 3 14667841 (1), 19341707 (1)
    choroidal neovascularization 41.1 1 17134037 (1)
    coronary artery disease 4.8 5 12176944 (2), 14631379 (1), 19929409 (1), 16854481 (1)
    leukemia 0 4 9721217 (3), 9892204 (1)

    GeneTests: ABCC6
    GeneReviews: ABCC6
    Genetic Association Database (GAD): ABCC6
    Human Genome Epidemiology (HuGE) Navigator: ABCC6 (20 documents)

    Export disorders for ABCC6 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 ABCC6 gene, integrated from 10 sources (see all 179):
    (articles sorted by number of sources associating them with ABCC6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss of ATP-dependent transport activity in pseudoxanthoma elasticum- associated mutants of human ABCC6 (MRP6). (PubMed id 11880368)1, 2, 7, 9 Ilias A.... Varadi A. (J. Biol. Chem. 2002)
    2. ABCC6 gene polymorphism associated with variation in plasma lipoproteins. (PubMed id 11776382)1, 2, 4, 9 Wang J.... Hegele R.A. (J. Hum. Genet. 2001)
    3. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. (PubMed id 17617515)1, 2, 4, 9 Pfendner E.G....Bercovitch L.G. (J. Med. Genet. 2007)
    4. Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells. (PubMed id 9892204)1, 2, 9 Kool M.... Borst P. (Cancer Res. 1999)
    5. Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells. (PubMed id 12901863)1, 2, 9 Sinko E.... Varadi A. (Biochem. Biophys. Res. Commun. 2003)
    6. Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. (PubMed id 11702217)1, 2, 9 Pulkkinen L.... Uitto J. (Hum. Genet. 2001)
    7. ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, and is shown to be expressed in primitive hematopoietic precursors. (PubMed id 9721217)1, 3, 9 Kuss B.J....Davey R.A. (Genomics 1998)
    8. Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. (PubMed id 19339160)1, 2, 9 Ramsay M.... Viljoen D. (J. Dermatol. Sci. 2009)
    9. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE). (PubMed id 16835894)1, 4, 9 Schulz V....GAPtting C. (Hum. Mutat. 2006)
    10. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PubMed id 11536079)1, 2, 9 Le Saux O.... Boyd C.D. (Am. J. Hum. Genet. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 368 HGNC: 57 AceView: ABCC6.1 Ensembl:ENSG00000091262 euGenes: HUgn368
    ECgene: ABCC6 Kegg: 368 H-InvDB: ABCC6

    (According to HUGE)
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      --

    (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 ABCC6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ABCC6 Genetics and Cytogenetics in Oncology and Haematology
    Mutations of the ABCC6 genehttp://www.retina-international.org/files/sci-news/abcc6mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ABCC6[genesymbol]
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=O95255

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCC6 gene:
    Search GeneIP for patents involving ABCC6

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



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