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    ABCC9 ATP binding cassette subfamily C member 9 [ Homo sapiens (human) ]

    Gene ID: 10060, updated on 8-May-2017
    Official Symbol
    ABCC9provided by HGNC
    Official Full Name
    ATP binding cassette subfamily C member 9provided by HGNC
    Primary source
    HGNC:HGNC:60
    See related
    Ensembl:ENSG00000069431 MIM:601439; Vega:OTTHUMG00000169094
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SUR2; ABC37; CANTU; CMD1O; ATFB12
    Summary
    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]
    Orthologs
    Location:
    12p12.1
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (21797389..21941869, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21950323..22094797, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369689 Neighboring gene uncharacterized LOC102724261 Neighboring gene potassium voltage-gated channel subfamily J member 8 Neighboring gene thioesterase superfamily member 4 pseudogene 1 Neighboring gene uncharacterized LOC105369690 Neighboring gene cytidine monophosphate N-acetylneuraminic acid synthetase

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • ATP sensitive Potassium channels, organism-specific biosystem (from REACTOME)
      ATP sensitive Potassium channels, organism-specific biosystemATP sensitive K+ channels couple intracellular metabolism with membrane excitability. These channels are inhibited by ATP so are open in low metabolic states and close in high metabolic states, resul...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Inwardly rectifying K+ channels, organism-specific biosystem (from REACTOME)
      Inwardly rectifying K+ channels, organism-specific biosystemInwardly rectifying K+ channels (Kir channels) show an inward rather than outward (like the voltage gated K+ channels) flow of K+ thereby contributing to maintenance of resting membrane potential an...
    • Ion homeostasis, organism-specific biosystem (from REACTOME)
      Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Potassium Channels, organism-specific biosystem (from REACTOME)
      Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ36852

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity, coupled to transmembrane movement of substances IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ATPase-coupled anion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    potassium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sulfonylurea receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP hydrolysis coupled anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    potassium ion import ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    potassium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cardiac conduction TAS
    Traceable Author Statement
    more info
     
    regulation of molecular function IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    ATP-sensitive potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ATP-sensitive potassium channel complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sarcomere IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ATP-binding cassette sub-family C member 9
    Names
    ATP-binding cassette transporter sub-family C member 9
    ATP-binding cassette, sub-family C (CFTR/MRP), member 9
    sulfonylurea receptor 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012819.1 RefSeqGene

      Range
      5001..144306
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_377

    mRNA and Protein(s)

    1. NM_005691.3NP_005682.2  ATP-binding cassette sub-family C member 9 isoform SUR2A

      See identical proteins and their annotated locations for NP_005682.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (SUR2A) uses an alternate 3' coding exon (exon 38A), compared to variant SUR2B, which uses exon 38B. The encoded isoform (SUR2A) has an alternate 38-amino acid C-terminus, but is the same length as isoform SUR2B. There are no full-length transcripts representing this variant in human; it is supported by partial transcript alignments, by full-length transcript alignments from the homologous mouse and rat genes, and by RT-PCR analysis in PMID:11054556.
      Source sequence(s)
      AC008250, AK056519, AK092535, CA389699, KF459680
      Consensus CDS
      CCDS8694.1
      UniProtKB/Swiss-Prot
      O60706
      UniProtKB/TrEMBL
      A0A024RAV7
      Related
      ENSP00000261201.4, OTTHUMP00000240078, ENST00000261201.8, OTTHUMT00000402230
      Conserved Domains (4) summary
      cd03288
      Location:13101549
      ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
      cd03290
      Location:672889
      ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C
      TIGR01271
      Location:2211534
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:9981232
      ABC_membrane; ABC transporter transmembrane region
    2. NM_020297.3NP_064693.2  ATP-binding cassette sub-family C member 9 isoform SUR2B

      See identical proteins and their annotated locations for NP_064693.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (SUR2B) uses an alternate 3' coding exon (exon 38B), compared to variant SUR2A, which uses exon 38A. The encoded isoform (SUR2B) has an alternate 38-amino acid C-terminus, but is the same length as isoform SUR2A. There are no full-length transcripts representing this variant in human; it is supported by partial transcript alignments, by full-length transcript alignments from the homologous mouse and rat genes, and by RT-PCR analysis in PMID:11054556.
      Source sequence(s)
      AC008250, AK056519, AK092535, CA389699, KF459680
      Consensus CDS
      CCDS8693.1
      UniProtKB/Swiss-Prot
      O60706
      Related
      ENSP00000261200.4, OTTHUMP00000240076, ENST00000261200.8, OTTHUMT00000402228
      Conserved Domains (4) summary
      cd03288
      Location:13101549
      ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
      cd03290
      Location:672889
      ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C
      TIGR01271
      Location:2211536
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:9981232
      ABC_membrane; ABC transporter transmembrane region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      21797389..21941869 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253288.3XP_005253345.1  ATP-binding cassette sub-family C member 9 isoform X1

      See identical proteins and their annotated locations for XP_005253345.1

      UniProtKB/Swiss-Prot
      O60706
      Conserved Domains (4) summary
      cd03288
      Location:13101549
      ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
      cd03290
      Location:672889
      ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C
      TIGR01271
      Location:2211536
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:9981232
      ABC_membrane; ABC transporter transmembrane region
    2. XM_005253290.3XP_005253347.1  ATP-binding cassette sub-family C member 9 isoform X5

      Conserved Domains (4) summary
      cd03288
      Location:12631502
      ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
      TIGR01271
      Location:2211489
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:9511185
      ABC_membrane; ABC transporter transmembrane region
      cl21455
      Location:672842
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    3. XM_005253289.3XP_005253346.1  ATP-binding cassette sub-family C member 9 isoform X3

      Conserved Domains (4) summary
      cd03288
      Location:12971536
      ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
      cd03290
      Location:672876
      ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C
      TIGR01271
      Location:2211523
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:9851219
      ABC_membrane; ABC transporter transmembrane region
    4. XM_006719025.3XP_006719088.1  ATP-binding cassette sub-family C member 9 isoform X4

      See identical proteins and their annotated locations for XP_006719088.1

      Conserved Domains (4) summary
      cd03288
      Location:12971536
      ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
      cd03290
      Location:672876
      ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C
      TIGR01271
      Location:2211521
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:9851219
      ABC_membrane; ABC transporter transmembrane region
    5. XM_005253284.3XP_005253341.1  ATP-binding cassette sub-family C member 9 isoform X1

      See identical proteins and their annotated locations for XP_005253341.1

      UniProtKB/Swiss-Prot
      O60706
      Conserved Domains (4) summary
      cd03288
      Location:13101549
      ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
      cd03290
      Location:672889
      ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C
      TIGR01271
      Location:2211536
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:9981232
      ABC_membrane; ABC transporter transmembrane region
    6. XM_005253287.4XP_005253344.1  ATP-binding cassette sub-family C member 9 isoform X2

      See identical proteins and their annotated locations for XP_005253344.1

      UniProtKB/Swiss-Prot
      O60706
      UniProtKB/TrEMBL
      A0A024RAV7
      Conserved Domains (4) summary
      cd03288
      Location:13101549
      ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
      cd03290
      Location:672889
      ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C
      TIGR01271
      Location:2211534
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:9981232
      ABC_membrane; ABC transporter transmembrane region
    7. XM_005253286.3XP_005253343.1  ATP-binding cassette sub-family C member 9 isoform X1

      See identical proteins and their annotated locations for XP_005253343.1

      UniProtKB/Swiss-Prot
      O60706
      Conserved Domains (4) summary
      cd03288
      Location:13101549
      ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
      cd03290
      Location:672889
      ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C
      TIGR01271
      Location:2211536
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:9981232
      ABC_membrane; ABC transporter transmembrane region
    8. XM_011520545.2XP_011518847.1  ATP-binding cassette sub-family C member 9 isoform X1

      See identical proteins and their annotated locations for XP_011518847.1

      UniProtKB/Swiss-Prot
      O60706
      Conserved Domains (4) summary
      cd03288
      Location:13101549
      ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
      cd03290
      Location:672889
      ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C
      TIGR01271
      Location:2211536
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
      cl00549
      Location:9981232
      ABC_membrane; ABC transporter transmembrane region

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      21915604..22054751 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020298.2: Suppressed sequence

      Description
      NM_020298.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Support Center