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ABCC9 Gene

protein-coding   GIFtS: 63
GCID: GC12M021950

ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 9

  See ABCC9-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 91 2     CMD1O2 5
Sulfonylurea Receptor 21 2 3     ABC372
SUR22 3 5     ATP-Binding Cassette Sub-Family C Member 92
ATFB122 5     ATP-Binding Cassette Transporter Sub-Family C Member 92
CANTU2 5     EC 3.6.3.448

External Ids:    HGNC: 601   Entrez Gene: 100602   Ensembl: ENSG000000694317   OMIM: 6014395   UniProtKB: O607063   

Export aliases for ABCC9 gene to outside databases

Previous GC identifers: GC12M022239 GC12M021955 GC12M021852 GC12M021845 GC12M021844 GC12M021723


(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 ABCC9 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 protein is a member of the MRP subfamily
which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in
cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the
drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in
this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Apr 2011)

GeneCards Summary for ABCC9 Gene:
ABCC9 (ATP-binding cassette, sub-family C (CFTR/MRP), member 9) is a protein-coding gene. Diseases associated with ABCC9 include abcc9-related familial atrial fibrillation, and cantu syndrome. GO annotations related to this gene include transporter activity and potassium channel activity. An important paralog of this gene is ABCC4.

UniProtKB/Swiss-Prot: ABCC9_HUMAN, O60706
Function: Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP
channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation

Gene Wiki entry for ABCC9 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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Regulatory elements:
   Regulatory transcription factor binding sites in the ABCC9 gene promoter:
         COUP-TF1   GR   COUP   HNF-4alpha2   HNF-4alpha1   COUP-TF   IRF-7A   Cart-1   ZIC2/Zic2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ABCC9 promoter sequence
   Search Chromatin IP Primers for ABCC9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABCC9


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

Entrez Gene cytogenetic band: 12p12.1   Ensembl cytogenetic band:  12p12.1   HGNC cytogenetic band: 12p12.1

ABCC9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABCC9 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M021950:  view genomic region     (about GC identifiers)

Start:
21,950,323 bp from pter      End:
22,094,336 bp from pter
Size:
144,014 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: ABCC9_HUMAN, O60706 (See protein sequence)
Recommended Name: ATP-binding cassette sub-family C member 9  
Size: 1549 amino acids; 174223 Da
Subunit: Interacts with KCNJ11
Miscellaneous: May contribute to the regulation of sleep duration. An intronic variant of this gene may account
for about 5% of the variation of sleep duration between individuals (PubMed:22105623). Sleep duration is
influenced both by environmental and genetic factors, with an estimated heritability of about 40%. Numerous genes
are expected to contribute to the regulation of sleep duration
Secondary accessions: O60707
Alternative splicing: 2 isoforms:  O60706-1   O60706-2   

Explore the universe of human proteins at neXtProt for ABCC9: NX_O60706

Explore proteomics data for ABCC9 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn9, Asn326, Asn330, Asn333, Asn334
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ABCC9 (O60706)
     SVGQRQL  TEIGERG 


    See ABCC9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005682.2  NP_064693.2  

    ENSEMBL proteins: 
     ENSP00000261200   ENSP00000440521   ENSP00000261201   ENSP00000317518   ENSP00000442604  
     ENSP00000261202  
    Reactome Protein details: O60706

    ABCC9 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ABCC9

     
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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

    Selected InterPro protein domains (see all 8):
     IPR003439 ABC_transporter-like
     IPR027417 P-loop_NTPase
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR001475 Sulphonylurea_rcpt-2

    Graphical View of Domain Structure for InterPro Entry O60706

    ProtoNet protein and cluster: O60706

    2 Blocks protein domains:
    IPB000388 Sulphonylurea receptor family signature
    IPB001475 Sulphonylurea receptor type 2 family signature


    UniProtKB/Swiss-Prot: ABCC9_HUMAN, O60706
    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 ABCC9           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: ABCC9_HUMAN, O60706
    Function: Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP
    channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation

         Genatlas biochemistry entry for ABCC9:
    ATP-binding cassette superfamily,subfamily C (CFTR/MRP),member 9

         Enzyme Number (IUBMB): EC 3.6.3.442

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005215transporter activity TAS8826984
    GO:0005267potassium channel activity IEA--
    GO:0005524ATP binding IEA--
    GO:0008281sulfonylurea receptor activity ISS--
         
    Find genes that share ontologies with ABCC9           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ABCC9:
     Decreased influenza A virus in  Increased G1 DNA content 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Abcc9):
     cardiovascular system  growth/size/body  homeostasis/metabolism  mortality/aging  muscle 

    Find genes that share phenotypes with ABCC9           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ABCC9: Abcc9tm1Lex Abcc9tm1Cfb

       genOway: Develop your customized and physiologically relevant rodent model for ABCC9

    miRNA
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    miRTarBase miRNAs that target ABCC9:
    hsa-mir-142-3p (MIRT021601)

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    Selected qRT-PCR Assays for microRNAs that regulate ABCC9 (see all 26):
    hsa-miR-30c hsa-miR-562 hsa-miR-4307 hsa-miR-640 hsa-miR-137 hsa-miR-429 hsa-miR-30d hsa-miR-885-5p
    SwitchGear 3'UTR luciferase reporter plasmidABCC9 3' UTR sequence
    Inhib. RNA
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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
    ABCC9_HUMAN, O60706: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IDA--
    GO:0008282ATP-sensitive potassium channel complex ISS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with ABCC9           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 ABCC9 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.69
    ABC transporters0.69
    2Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    3Inwardly rectifying K+ channels
    Inwardly rectifying K+ channels0.82
    ATP sensitive Potassium channels0.00
    4Transmission across Chemical Synapses
    Neuronal System0.68
    5Transport 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 ABCC9           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ABCC9
        CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

    2 Reactome Pathways for ABCC9
        ABC-family proteins mediated transport
    ATP sensitive Potassium channels

    1 PharmGKB Pathway for ABCC9
        Antiarrhythmic Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for ABCC9):
        ABC transporters

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ABCC9
    Interactions:

        Search GeneGlobe Interaction Network for ABCC9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for ABCC9 (O607063 ENSP000002612004) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LDHAP003383, ENSP000003953374I2D: score=3 STRING: ENSP00000395337
    KCNJ11Q146543, ENSP000003457084I2D: score=1 STRING: ENSP00000345708
    KCNJ8Q158423, ENSP000002406624I2D: score=1 STRING: ENSP00000240662
    STX1AQ166233, ENSP000002228124I2D: score=2 STRING: ENSP00000222812
    EEF1GP266413I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006813potassium ion transport TAS8826984
    GO:0007165signal transduction TAS8826984
    GO:0007268synaptic transmission TAS--
    GO:0010107potassium ion import ISS--

    Find genes that share ontologies with ABCC9           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 ABCC9

    2 DrugBank Compounds for ABCC9    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GlyburideApo-Glibenclamide (see all 4)10238-21-8targetmodulator15023854 12145099 16845255 17294036 14672537
    Adenosine triphosphate5'-ATP (see all 8)56-65-5target--16829188 16845255 16897043

    Selected Novoseek inferred chemical compound relationships for ABCC9 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sulfonylurea 92.5 21 16672225 (2), 17110465 (1), 19607836 (1), 15102948 (1) (see all 17)
    katp 92.1 42 8826984 (2), 10224138 (2), 11054556 (2), 10099692 (1) (see all 28)
    glibenclamide 77.4 12 11714894 (2), 15561900 (1), 16845255 (1), 8630239 (1) (see all 10)
    meglitinide 75.7 2 10347249 (1), 12475777 (1)
    pinacidil 71 3 9692785 (1), 10625598 (1), 17301957 (1)
    mgatp 70.9 4 10436001 (1), 12145099 (1), 15023854 (1), 11714894 (1)
    mgadp 70.7 3 12145099 (1), 11714894 (1), 12475777 (1)
    tolbutamide 69.7 2 14676579 (1), 12475777 (1)
    diazoxide 69.4 3 14676579 (1), 10625598 (1), 17301957 (1)
    glimepiride 67 2 11078468 (1), 12475777 (1)



    Find genes that share compounds with ABCC9           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 ABCC9 gene (3 alternative transcripts): 
    NM_005691.3  NM_020297.3  NM_020298.2  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261200(uc001rfh.3) ENST00000544039 ENST00000261201(uc001rfi.1)
    ENST00000326684(uc001rfk.3) ENST00000538350(uc001rfl.1) ENST00000345162

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    Selected qRT-PCR Assays for microRNAs that regulate ABCC9 (see all 26):
    hsa-miR-30c hsa-miR-562 hsa-miR-4307 hsa-miR-640 hsa-miR-137 hsa-miR-429 hsa-miR-30d hsa-miR-885-5p
    SwitchGear 3'UTR luciferase reporter plasmidABCC9 3' UTR sequence
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    Selected AceView cDNA sequences (see all 56):

    AA233923 AA234172 BE148672 BQ004763 AA716277 AW172466 AK056519 AK092535 
    AA329631 CA390366 BX640893 BG564434 CA389699 CR619334 AA687622 AI093397 
    BX497417 BG619262 AI803384 BC033804 NM_020297 CD630005 AI769040 CD630008 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ABCC9    About this scheme

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


    ECgene alternative splicing isoforms for ABCC9

    (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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    ABCC9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ABCC9 Expression
    About this image


    ABCC9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gonad
             Primordial germ cell-like cells
     
     Kidney (Urinary System)
             Metanephros
    ABCC9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABCC9 Protein Expression
        Custom PCR Arrays for ABCC9
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCC9

    (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 eukaryotes.

    Orthologs for ABCC9 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abcc91 , 5 ATP-binding cassette, sub-family C (CFTR/MRP), member more1, 5 84.96(n)1
    95.47(a)1
      6 (74.35 cM)5
    209281  NM_011511.21  NP_035641.11 
     1425878625 
    chicken
    (Gallus gallus)
    Aves ABCC91 ATP-binding cassette, sub-family C (CFTR/MRP), member more 79.41(n)
    88.7(a)
      418200  XM_004937988.1  XP_004938045.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABCC96
    ATP-binding cassette, sub-family C (CFTR/MRP), mem...
    81(a)
    1 ↔ 1
    5(6477657-6542422)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.185552 Xenopus laevis transcribed sequence with moderate similarity more 74.38(n)    CD328323.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abcc91 ATP-binding cassette, sub-family C (CFTR/MRP), member more 71.36(n)
    81.8(a)
      561160  NM_001030154.1  NP_001025325.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sur1 , 3 heart development sulfonylurea receptor3
    Sulfonylurea receptor1
    33(a)3
    49.19(n)1
    39.01(a)1
      31B13
    343501  NM_058124.31  NP_477472.21 
    soybean
    (Glycine max)
    eudicotyledons 467492552   -- 71.23(n)  
    rice
    (Oryza sativa)
    Liliopsida AK121451.12   -- 72.72(n)    AK121451.1 


    ENSEMBL Gene Tree for ABCC9 (if available)
    TreeFam Gene Tree for ABCC9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABCC9 gene
    ABCC42  ABCC32  ABCC122  ABCC62  ABCC12  ABCC22  ABCC82  ABCC52  
    ABCC112  
    Selected SIMAP similar genes for ABCC9 using alignment to 5 protein entries:     ABCC9_HUMAN (see all proteins) (see all similar genes):
    ABCC8    ABCB4    DKFZp434I2115    TAP1    CFTR    MOAT-B
    NG-TRA    DKFZp781G125    ABCC2    ABCC10    ABCC4    ABCC1
    ABCC11    ABCC12    ABCC3    MRP3    ABCC5    ABCC6

    Find genes that share paralogs with ABCC9           About GenesLikeMe



    (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 ABCC9 (see all 2971)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0662104
    Atrial fibrillation, familial, 12 (ATFB12)4--see VAR_0662102 T I mis40--------
    VAR_0684874
    Hypertrichotic osteochondrodysplasia (HTOCD)4--see VAR_0684872 G C mis40--------
    VAR_0684904
    Hypertrichotic osteochondrodysplasia (HTOCD)4--see VAR_0684902 S P mis40--------
    VAR_0684884
    Hypertrichotic osteochondrodysplasia (HTOCD)4--see VAR_0684882 P L mis40--------
    VAR_0684954
    Hypertrichotic osteochondrodysplasia (HTOCD)4--see VAR_0684952 R H mis40--------
    VAR_0684964
    Hypertrichotic osteochondrodysplasia (HTOCD)4--see VAR_0684962 R Q mis40--------
    VAR_0684894
    Hypertrichotic osteochondrodysplasia (HTOCD)4--see VAR_0684892 A V mis40--------
    VAR_0684864
    Hypertrichotic osteochondrodysplasia (HTOCD)4--see VAR_0684862 D E mis40--------
    VAR_0684944
    Hypertrichotic osteochondrodysplasia (HTOCD)4--see VAR_0684942 R C mis40--------
    VAR_0684914
    Hypertrichotic osteochondrodysplasia (HTOCD)4--see VAR_0684912 F S mis40--------

    HapMap Linkage Disequilibrium report for ABCC9 (21950323 - 22094336 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABCC9 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745625CNV Deletion23290073
    esv2745628CNV Deletion23290073
    esv2745627CNV Deletion23290073
    esv2745626CNV Deletion23290073
    esv2109102CNV Deletion18987734
    esv2662950CNV Deletion23128226
    esv2745624CNV Deletion23290073
    esv2142868CNV Deletion18987734
    esv1937162CNV Deletion18987734
    esv270968CNV Insertion20981092

    Human Gene Mutation Database (HGMD): ABCC9
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ABCC9
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCC9

    (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: 601439   
    OMIM disorders: 608569  614050  239850  
    UniProtKB/Swiss-Prot: ABCC9_HUMAN, O60706
  • Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]: A familial form of atrial fibrillation, a common
    sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical
    activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling.
    It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]: A rare disorder characterized by congenital
    hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads
    to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition,
    macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full
    lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at
    birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened
    calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged
    medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as
    patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present
    in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild
    speech delay, and a small percentage have learning difficulties or intellectual disability. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 12 diseases for ABCC9:    
    About MalaCards
    abcc9-related familial atrial fibrillation    cantu syndrome    atrial fibrillation, familial, 12    acromegaloid facial appearance syndrome
    cardiomyopathy, dilated, 1o    coronary artery vasospasm    abcc9-related dilated cardiomyopathy    osteochondrodysplasia
    choroid plexus papilloma    hypokalemic periodic paralysis    atrial fibrillation, familial, 9    cardiomyopathy, dilated, 1w

    2 diseases from the University of Copenhagen DISEASES database for ABCC9:
    Hypertrichosis     Coronary artery vasospasm

    Find genes that share disorders with ABCC9           About GenesLikeMe

    1 Novoseek inferred disease relationship for ABCC9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 0 1 16829188 (1)

    GeneTests: ABCC9
    GeneReviews: ABCC9
    Genetic Association Database (GAD): ABCC9
    Human Genome Epidemiology (HuGE) Navigator: ABCC9 (7 documents)

    Export disorders for ABCC9 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 ABCC9 gene, integrated from 10 sources (see all 106):
    (articles sorted by number of sources associating them with ABCC9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. (PubMed id 15034580)1, 2, 3 Bienengraeber M.... Terzic A. (Nat. Genet. 2004)
    2. Toward understanding the assembly and structure of KATP channels. (PubMed id 9457174)1, 2, 3 Aguilar-Bryan L.... Bryan J. (Physiol. Rev. 1998)
    3. Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KCNJ8 and ABCC9. (PubMed id 19952277)1, 4, 9 Ellis J.A....Harrap S.B. (Physiol. Genomics 2010)
    4. A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. (PubMed id 22105623)1, 2 Allebrandt K.V.... Roenneberg T. (Mol. Psychiatry 2013)
    5. Cantu syndrome is caused by mutations in ABCC9. (PubMed id 22608503)1, 2 van Bon B.W.... Hoischen A. (Am. J. Hum. Genet. 2012)
    6. Dominant missense mutations in ABCC9 cause Cantu syndrome. (PubMed id 22610116)1, 2 Harakalova M.... Cuppen E. (Nat. Genet. 2012)
    7. A novel custom resequencing array for dilated cardiomyopathy. (PubMed id 20474083)1, 4 Zimmerman R.S....Funke B.H. (Genet. Med. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    10. A novel Val734Ile variant in the ABCC9 gene associated with myocardial infarction. (PubMed id 16563363)1, 4 Minoretti P....Geroldi D. ( international journal of clinical chemistry 2006)

    (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: 10060 HGNC: 60 AceView: ABCC9 Ensembl:ENSG00000069431 euGenes: HUgn10060
    ECgene: ABCC9 Kegg: 10060 H-InvDB: ABCC9

    (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 ABCC9 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ABCC9[genesymbol]
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/139
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=O60706

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABCC9 gene:
    Search GeneIP for patents involving ABCC9

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



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