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

ABCC9 Gene

protein-coding   GIFtS: 64
GCID: GC12M021852

ATP-binding cassette, sub-family C (CFTR/MRP), member 9
 Explore 19 diseases affiliated with
ABCC9 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ABCC9    

Aliases
for ABCC9 gene

(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 91 2     ATFB122
SUR21 2 3 5     CANTU2
CMD1O1 2 5     ATP-Binding Cassette Sub-Family C Member 92
Sulfonylurea Receptor 22 3     ATP-Binding Cassette Transporter Sub-Family C Member 92
ABC372     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 GC12M021845 GC12M021844 GC12M021723


Summaries
for ABCC9 gene

(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 ABCC9:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ABCC9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC12M021852:  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

Proteins
for ABCC9 gene

(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: 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
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60706

    • 2 DME Specific Peptides for ABCC9 (O60706)
     SVGQRQL  TEIGERG 

    ABCC9 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000261200   ENSP00000440521   ENSP00000261201   ENSP00000317518   ENSP00000442604  
     ENSP00000261202  
    Reactome Protein details: O60706
    Human Recombinant Protein Products: 
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    Uscn Proteins for ABCC9

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

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


    ABCC9 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ABCC9 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ABCC9 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR003439 ABC_transporter-like
     IPR001140 ABC_transptr_TM_dom
     IPR003593 AAA+_ATPase
     IPR001475 Sulphonylurea_rcpt-2
     IPR000388 Sulphorea_rcpt

    Graphical View of Domain Structure for InterPro Entry O60706

    ProtoNet protein and cluster: O60706

    2 Blocks protein families:
    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


    Function
    for ABCC9 gene

    (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: 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

    miRNA
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    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 plasmid: ABCC9 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS8826984
    GO:0005524ATP binding IEA--
    GO:0008281sulfonylurea receptor activity ISS--
    GO:0015459potassium channel regulator activity ISS--
    GO:0042626ATPase activity, coupled to transmembrane movement of substances IEA--


    ABCC9 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for ABCC9: Abcc9tm1Lex Abcc9tm1Cfb
         5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Abcc9):
     cardiovascular system  growth/size  homeostasis/metabolism  mortality/aging  muscle 

    ABCC9 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ABCC9 gene

    (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 - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Potassium Channels
    		Potassium Channels1.00
    		Potassium transporters: outward current0.42
    2ABC-family proteins mediated transport
    		ABC-family proteins mediated transport1.00
    		ABC transporters0.70
    3CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
    		CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)1.00
    4ATP sensitive Potassium channels
    		ATP sensitive Potassium channels1.00
    5Antiarrhythmic Pathway, Pharmacodynamics
    		Antiarrhythmic Pathway, Pharmacodynamics1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for ABCC9
        Potassium transporters- outward current


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

    5/6        Reactome Pathways for ABCC9 (see all 6)
        ABC-family proteins mediated transport
    ATP sensitive Potassium channels
    Potassium Channels
    Transmembrane transport of small molecules
    Neuronal System

    1 PharmGKB Pathway for ABCC9
        Antiarrhythmic Pathway, Pharmacodynamics

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


    ABCC9 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABCC9

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

    5/8 Interacting proteins for ABCC9 (O607063 ENSP000002612004) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport TAS8826984
    GO:0007268synaptic transmission TAS--
    GO:0010107potassium ion import ISS--
    GO:0051607defense response to virus IMP18026101
    GO:0055085transmembrane transport TAS--


    ABCC9 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ABCC9 gene

    (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

    ABCC9 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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

    10/15 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ABCC9 

    Transcripts
    for ABCC9 gene

    (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 ABCC9 gene (3 alternative transcripts): 
    NM_005691.2  NM_020297.2  NM_020298.2  

    Unigene Cluster for ABCC9:

    ATP-binding cassette, sub-family C (CFTR/MRP), member 9
    Hs.732701  [show with all ESTs]
    Unigene Representative Sequence: NM_020297
    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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    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
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK056519.1 AK092535.1 AK094171.1 BC033804.1 BX537513.1 BX640893.1 

    5 DOTS entries:

    DT.40189058  DT.315094  DT.99932355  DT.95267937  DT.99954570 

    24/56 AceView cDNA sequences (see all 56):

    BQ004763 AA687622 BE148672 AW172466 BG564434 AK092535 CR619334 AA329631 
    CA390366 CA389699 AA234172 AA716277 AK056519 BX640893 AA233923 BC033804 
    NM_020298 BX104670 BG619262 CD630008 BX463312 AI093397 CD630003 NM_020297 

    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

    Expression
    for ABCC9 gene

    (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

    ABCC9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    ABCC9 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Lateral Plate MesodermSplanchnic MesodermPericytesPericytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ABCC9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABCC9

    SOURCE GeneReport for Unigene cluster: Hs.732701
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    In Situ
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    Orthologs
    for ABCC9 gene

    (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 ABCC9 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ABCC91 ATP-binding cassette, sub-family C (CFTR/MRP), member more 79.32(n)
    88.87(a)    		   418200  XM_003640404.1  XP_003640452.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ABCC96
    		 --
    		 81(a)
    		 1 ↔ 1
    		 5(6487244-6542422)
    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 71.2(n)
    81.37(a)    		   561160  NM_001030154.1  NP_001025325.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATMRP156
    MRP76
    (see all 11)    		 ABC transporter C family member 7
    (see all 11)    		 32(a)
    27(a)
    (see all 11)    		 possible ortholog
    possible ortholog
    (see all 11)    		 3(22557535-22561716)
    3(4208735-4214173)
    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
    for ABCC9 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABCC9 gene
    ABCC42  ABCC122  ABCC12  ABCC102  CFTR2  ABCC82  ABCC52  ABCC32  
    ABCC62  ABCC22  ABCC112  
    18/22 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    ABCC10    DKFZp781G125    ABCC2    ABCC4    ABCC1
    ABCC11    ABCC12    ABCC3    MRP3    ABCC5    ABCC6

    ABCC9 for paralogs           About GeneDecksing



    Genomic Variants
    for ABCC9 gene

    (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

    10/2337 NCBI SNPs in ABCC9 are shown (see all 2337)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs354048041,2
    		C,F,non-pathogenic21769414(+) GGAGGG/AATGTG 4 /I syn121Minor allele frequency- A:0.02NA MN WA EA 7470
    rs583867801,2
    		C,F,non-pathogenic21842639(+) TTCAGG/ACAAAC 4 /C syn120Minor allele frequency- A:0.01NS MN WA EA CSA NA EU 8730
    rs1503034331,2
    		C,F,probable-non-pathogenic21745096(+) ACCGTA/GAGTGC 4 L syn12Minor allele frequency- G:0.00NA EU 5875
    rs619260781,2
    		C,F,probable-non-pathogenic21779182(+) GAAAGC/TGGATA 2 -- int14Minor allele frequency- T:0.01NA EU 1433
    rs1394081451,2
    		C,F,probable-non-pathogenic21779329(+) GCATGC/TGTCAG 4 T syn12Minor allele frequency- T:0.00NA EU 5871
    rs358577051,2
    		Cprobable-non-pathogenic21837224(+) CTACC-/AAAAAA 2 -- int12Minor allele frequency- A:0.25NA 4
    rs41486801,2
    		Cunknown21733023(-) TTTTT-/TGCAGG 2 -- int1 trp31Minor allele frequency- T:0.00CSA 2
    rs725594321,2
    		Cunknown21863666(+) CTTATA/GTGGTT 2 -- ut511Minor allele frequency- G:0.00--504
    rs1138377591,2
    		--21723986(+) ATATTG/ATAGAG 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs781321701,2
    		--21723990(+) TGTAGA/GGAATA 1 -- ut311Minor allele frequency- G:0.01EA 120

    HapMap Linkage Disequilibrium report for ABCC9 (21950323 - 22094336 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for ABCC9
         7 Indels: 101448 39886 45023 11602 45022 39887 11603
    Human Gene Mutation Database (HGMD): ABCC9

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ABCC9
    DNA2.0 Custom Variant and Variant Library Synthesis for ABCC9

    Disorders / Diseases
    for ABCC9 gene

    (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
    ABCC9 for disorders           About GeneDecksing

    OMIM gene information: 601439   
    OMIM disorders: 608569  
    UniProtKB/Swiss-Prot: ABCC9_HUMAN, O60706
  • Defects in ABCC9 are the cause of cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]; also known as dilated
    • cardiomyopathy with ventricular tachycardia. Dilated cardiomyopathy is a disorder characterized by ventricular
    dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death
  • Defects in ABCC9 are the cause of familial atrial fibrillation type 12 (ATFB12) [MIM:614050]. ATFB12 is 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
  • Defects in ABCC9 are the cause of 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

    19 diseases for ABCC9:    About MalaCards
    cardiomyopathy    coronary artery vasospasm    atrial fibrillation    pancreatitis
    familial atrial fibrillation    ventricular tachycardia    myocardial infarction    acute myocardial infarction
    brachydactyly    dilated cardiomyopathy    hypertrichosis    essential hypertension
    hypertension with brachydactyly    diabetes mellitus    epididymitis    hypertension
    choroiditis    ischemia    hypoxia

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

    1 Novoseek 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
    Dilated Cardiomyopathy

    Human Genome Epidemiology (HuGE) Navigator: ABCC9 (7 documents)

    Export disorders for ABCC9 gene to outside databases

    Publications
    for ABCC9 gene

    (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 ABCC9 gene, integrated from 9 sources (see all 102):
    (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. (2004)
    2. Toward understanding the assembly and structure of KATP channels. (PubMed id 9457174)1, 2, 3 Aguilar-Bryan L.... Bryan J. (1998)
    3. Cantu syndrome is caused by mutations in ABCC9. (PubMed id 22608503)1, 2 van Bon B.W....Hoischen A. (2012)
    4. Dominant missense mutations in ABCC9 cause Cantu syndrome. (PubMed id 22610116)1, 2 Harakalova M.... Cuppen E. (2012)
    5. Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular KATP channels. (PubMed id 8826984)1, 9 Chutkow W.A....Burant C.F. (1996)
    6. Molecular characterization of human SUR2-containing K(ATP) channels. (PubMed id 11054556)1, 9 Davis-Taber R....Scott V.E. (2000)
    7. Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KC NJ8 and ABCC9. (PubMed id 19952277)1, 9 Ellis J.A....Harrap S.B. (2010)
    8. Cardiac sarcolemmal K(ATP) channels: Latest twists in a questing tale! (PubMed id 19607836)1, 9 Zhang H....Nichols C.G. (2010)
    9. Syntaxin-1A actions on sulfonylurea receptor 2A can block acidic pH-induced cardiac K(ATP) channel activation. (PubMed id 16672225)1, 9 Kang Y....Gaisano H.Y. (2006)
    10. Pretreatment with fosinopril or valsartan reduces myocardial no-reflow after acute myocardial infarction and reperfusion. (PubMed id 16845255)7, 9 Zhao J.L....Gao R.L. (2006)

    External Searches for ABCC9 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ABCC9 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10060 HGNC: 60 AceView: ABCC9 Ensembl:ENSG00000069431 euGenes: HUgn10060
    ECgene: ABCC9 Kegg: 10060 H-InvDB: ABCC9

    Other Databases showing ABCC9 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ABCC9 gene

    (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 ABCC9 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCC9
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt139.shtml
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=O60706

    Intellectual Property
    for ABCC9 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

     
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