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

ABCC6 Gene

protein-coding   GIFtS: 66
GCID: GC16M016243

ATP-binding cassette, sub-family C (CFTR/MRP), member 6

(Previous name: pseudoxanthoma elasticum )
(Previous symbols: ARA, PXE)
 Explore 45 diseases affiliated with
ABCC6 via our new
 Human Malady Compendium 
Biological research products
for ABCC6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 61 2     MOAT-E2 3
ARA1 2 3 5     ATP-Binding Cassette Sub-Family C Member 62 3
MRP61 2 3     ABC342 5
MLP11 2 5     Pseudoxanthoma Elasticum1
PXE1 2 5     GACI22
EST3490561 2     MOATE2
URG71 2     PXE12
Anthracycline Resistance-Associated Protein2 3     Multidrug Resistance-Associated Protein 62
Multi-Specific Organic Anion Transporter E2 3     

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

Entrez Gene summary for ABCC6:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ABCC6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255 (See protein sequence)
Recommended Name: Multidrug resistance-associated protein 6  
Size: 1503 amino acids; 164906 Da
Subcellular location: Membrane; Multi-pass membrane protein (By similarity). Note=Localized to the basolateral membrane
Sequence caution: Sequence=AAC15785.1; Type=Erroneous gene model prediction;
Secondary accessions: P78420 Q9UMZ7

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95255

  • ABCC6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000205557   ENSP00000405002   ENSP00000459243   ENSP00000461686  
    Reactome Protein details: O95255
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    Uscn Proteins for ABCC6

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0016324apical plasma membrane IEA--
    GO:0016328lateral plasma membrane IEA--


    ABCC6 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ABCC6 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR003439 ABC_transporter-like
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR017940 ABC_transporter_type1
     IPR011527 ABC_transptrTM_dom_typ1

    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

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

    miRNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS8912525
    GO:0005524ATP binding IEA--
    GO:0016887ATPase activity ----
    GO:0042626ATPase activity, coupled to transmembrane movement of substances IEA--


    ABCC6 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for ABCC6: Abcc6tm1Jfk Abcc6tm1Aabb
         6 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Abcc6):
     cardiovascular system  homeostasis/metabolism  integument  other  renal/urinary system 
     vision/eye 

    ABCC6 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport1.00
    ABC transporters0.70
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2        Reactome Pathways for ABCC6
        ABC-family proteins mediated transport
    Transmembrane transport of small molecules


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


    ABCC6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABCC6

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

    5/7 Interacting proteins for ABCC6 (O952553 ENSP000002055574) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    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 (GO ID links to tree view):    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--


    ABCC6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABCC6 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ABCC6

    10/11 DrugBank Compounds for ABCC6 (see all 11)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DoxorubicinDoxorubicin HCl (see all 5)23214-92-8transportersubstrate inhibitor12069597 12414644
    Etoposide(-)-Etoposide (see all 3)33419-42-0transportersubstrate inhibitor12069597 12414644
    CisplatinCis-DDP (see all 4)15663-27-1transportersubstrate12414644
    DactinomycinActD (see all 6)50-76-0transportersubstrate12414644
    Daunorubicin-- 20830-81-3transportersubstrate12414644
    IndomethacinIMN (see all 9)53-86-1transporterinhibitor11880368
    PhenobarbitalFenobarbital (see all 7)50-06-6transporterinducer10712264
    ProbenecidProbenecid Acid (see all 2)57-66-9transporterinhibitor11880368
    SulfinpyrazoneDiphenylpyrazone (see all 6)57-96-5transporterinhibitor12527806
    TeniposideTeniposido [INN-Spanish] (see all 2)29767-20-2transportersubstrate12414644

    9 Novoseek 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
    Drug/compound PharmGKB Annotation
    docetaxelCA  
    thalidomideCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about ABCC6 / MRP6 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 cDNA 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 AW235625 BX283084 BC015978 BI830076 BV203038 R99091 
    BQ181437 BF334136 R99635 AI935444 BF105026 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™, 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

    ABCC6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGACTCTTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ABCC6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCC6

    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
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC6

    (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 ABCC6 gene from 7/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ABCC61 ATP-binding cassette, sub-family C (CFTR/MRP), member more 60(n)
    54.63(a)
      416600  NM_001252080.1  NP_001239009.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABCC66
    --
    53(a)
    1 ↔ 1
    GL343580.1(215966-261394)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01053134.16
    abcc6a6
    (see all 3)
    --
    ATP-binding cassette, sub-family C (CFTR/MRP), mem...
    (see all 3)
    46(a)
    46(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    3(36802274-36817929)
    6(10937301-10978942)
    fruit fly
    (Drosophila melanogaster)
    Insecta MRP6
    Multidrug-Resistance like Protein 1
    36(a)
    1 → many
    2L(12719045-12744807)
    worm
    (Caenorhabditis elegans)
    Secernentea C18C4.23 trans-membrane protein 23(a)   V(5541395-5548247)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATMRP136
    ATMRP126
    (see all 4)
    ABC transporter C family member 11
    (see all 4)
    30(a)
    29(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    1(10738805-10747323)
    1(10748816-10756316)
    rice
    (Oryza sativa)
    Liliopsida --
    ABC transporter family protein, putative, expresse...
    27(a)
    1 → many
    4(31317839-31329207)


    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)
    About This Section
    Paralogs for ABCC6 gene
    ABCC42  ABCC122  ABCC12  ABCC102  CFTR2  ABCC82  ABCC52  ABCC32  
    ABCC22  ABCC112  ABCC92  
    18/21 SIMAP similar genes for ABCC6 using alignment to 6 protein entries:     MRP6_HUMAN (see all proteins) (see all similar genes):
    URG7    ara    ABCB4    TAP1    DKFZp781G125    ABCC1
    DKFZp434I2115    NG-TRA    MRP3    ABCC3    ABCC2    CFTR
    MRP    MOAT-B    ABCC4    ABCC9    ABCC12    ABCC5

    ABCC6 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ABCC6
    PGOHUM00000262274 PGOHUM00000249003


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1758 NCBI SNPs in ABCC6 are shown (see all 1758    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2120981,2
    C,F,O,A,H,non-pathogenic16244174(-) CGCAGA/GCACAC 1 -- int123Minor allele frequency- G:0.19MN EA NA NS WA 4216
    rs412781701,2
    C,non-pathogenic16244179(+) TCTGCA/GCTGAG 1 -- int10--------
    rs71926341,2
    C,F,A,H,non-pathogenic16245729(+) TCCTCG/ACTGAA 1 -- int126Minor allele frequency- A:0.14NA NS EA WA 2894
    rs99329351,2
    C,F,H,non-pathogenic16247471(+) TACAGA/TAACTA 1 -- int119Minor allele frequency- T:0.17NS EA NA WA 2052
    rs587605811,2
    C,F,non-pathogenic16248476(-) TGGTCG/ATCCCA 1 -- int12Minor allele frequency- A:0.01EU 1703
    rs20667381,2
    C,F,H,non-pathogenic16248681(-) GGACCC/TGGCTC 1 -- int115Minor allele frequency- T:0.15NA NS EA CSA WA 1538
    rs577450141,2
    C,F,non-pathogenic16248934(-) TGCCCA/C/GCAAAC 1 -- int11--546
    rs1698451,2
    C,F,H,non-pathogenic16250598(-) GCTATC/GAAACT 1 -- int114Minor allele frequency- G:0.43NS EA NA WA CSA 785
    rs118658531,2
    C,Hnon-pathogenic16250989(+) ACTTAG/AGGGTT 1 -- int15Minor allele frequency- A:0.00NS EA NA 422
    rs22384711,2
    C,F,H,non-pathogenic16251899(-) TTTATA/CATAAA 1 -- int115Minor allele frequency- C:0.09NS EA NA 2122

    HapMap Linkage Disequilibrium report for ABCC6 (16242785 - 16317379 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for ABCC6
         5 CNVs: 47993 3993 72485 7089 2204
    Human Gene Mutation Database (HGMD): ABCC6

    Locus Specific Mutation Databases (LSDB): ABCC6

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCC6
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCC6

    (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.)
    About This Section

    ABCC6 for disorders           About GeneDecksing

    OMIM gene information: 603234   
    OMIM disorders: 264800  177850  
    UniProtKB/Swiss-Prot: MRP6_HUMAN, O95255
  • Defects in ABCC6 are the cause of pseudoxanthoma elasticum (PXE) [MIM:264800]. PXE is a disorder characterized
  • by calcification of elastic fibers in skin, arteries and retina that results in dermal lesions with associated laxity
    and loss of elasticity, arterial insufficiency and retinal hemorrhages leading to macular degeneration. PXE is caused
    in the overwhelming majority of cases by homozygous or compound heterozygous mutations in the ABCC6 gene (autosomal
    recessive PXE). Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma
    elasticum phenotype (autosomal dominant PXE)
  • Defects in ABCC6 are the cause of arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473].
  • GACI2 is 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

    20/45 diseases for ABCC6 (see all 45):    About MalaCards
    pseudoxanthoma elasticum, forme fruste    elastosis perforans serpiginosa    angioid streaks    dubin-johnson syndrome
    arterial calcification of infancy    generalized arterial calcification of infancy    arterial calcification    connective tissue disease
    cutis laxa    abdominal aortic aneurysm    familial mediterranean fever    aortic aneurysm
    coronary heart disease    primary biliary cirrhosis    retinal drusen    metabolic disorders
    myocardial infarction    acute myocardial infarction    acute lymphoblastic leukemia    macular degeneration

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

    10/15 Novoseek 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
    Pseudoxanthoma Elasticum

    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)
    About This Section

    PubMed articles for ABCC6 gene, integrated from 9 sources (see all 170):
    (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. (2002)
    2. ABCC6 gene polymorphism associated with variation in plasma lipoproteins. (PubMed id 11776382)1, 2, 4, 9 Wang J.... Hegele R.A. (2001)
    3. 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. (1999)
    4. Subcellular localization and N-glycosylation of human ABCC6, expressed in MDCKII cells. (PubMed id 12901863)1, 2, 9 Sinko E.... Varadi A. (2003)
    5. 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. (2001)
    6. 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, 9 Pfendner E.G....Bercovitch L.G. (2007)
    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. (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. (2009)
    9. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. (PubMed id 11536079)1, 2, 9 Le Saux O.... Boyd C.D. (2001)
    10. Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. (PubMed id 11439001)1, 3, 9 Meloni I....Renieri A. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 368 HGNC: 57 AceView: ABCC6.1 Ensembl:ENSG00000091262 euGenes: HUgn368
    ECgene: ABCC6 Kegg: 368 H-InvDB: ABCC6

    (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 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/sites/GeneTests/lab/gene/ABCC6
    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.)
    About This Section
    Patent Information for ABCC6 gene:
    Search GeneIP for patents involving ABCC6

    GeneCards and IP:
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