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

    Gene ID: 10060, updated on 13-May-2024

    Summary

    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; AllianceGenome:HGNC:60
    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; IDMYS; 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]
    Expression
    Broad expression in fat (RPKM 12.5), liver (RPKM 7.3) and 19 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    12p12.1
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (21797389..21941426, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (21676073..21820886, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21950323..22094360, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369689 Neighboring gene uncharacterized LOC102724261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:21925998-21926996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:21926997-21927994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6096 Neighboring gene potassium inwardly rectifying channel subfamily J member 8 Neighboring gene VISTA enhancer hs2151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:22052130-22052630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:22052631-22053131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:22093793-22094770 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26510 Neighboring gene thioesterase superfamily member 4 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 13841 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:22199579-22200284 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:22201245-22201850 Neighboring gene uncharacterized LOC105369690 Neighboring gene cytidine monophosphate N-acetylneuraminic acid synthetase

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ36852

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to ATP-activated inward rectifier potassium channel activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables ATPase-coupled inorganic anion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables ATPase-coupled monoatomic cation transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATPase-coupled transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to monoatomic cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    contributes_to potassium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables potassium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables sulfonylurea receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in action potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cardiac muscle cell contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inorganic cation transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in monoatomic anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic cation transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in potassium ion import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in potassium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in potassium ion transmembrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in response to ATP IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to ATP ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of inward rectifying potassium channel IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of inward rectifying potassium channel ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of potassium ion-transporting ATPase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sarcomere IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001377273.1NP_001364202.1  ATP-binding cassette sub-family C member 9 isoform SUR2B

      Status: REVIEWED

      Source sequence(s)
      AC008250, AC084806, KF459680, KF495813, KF570253
      Consensus CDS
      CCDS8693.1
      UniProtKB/TrEMBL
      A0A804HKB7
      Conserved Domains (1) summary
      TIGR00957
      Location:2221546
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    2. NM_001377274.1NP_001364203.1  ATP-binding cassette sub-family C member 9 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC008250, AC084806, KF459680, KF495813, KF570253
      UniProtKB/TrEMBL
      H0YFV4
      Related
      ENSP00000440521.1, ENST00000544039.5
      Conserved Domains (1) summary
      TIGR00957
      Location:11257
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    3. NM_005691.4NP_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, AC084806, KF459680, KF495813, KF570253
      Consensus CDS
      CCDS8694.1
      UniProtKB/Swiss-Prot
      O60706, O60707
      UniProtKB/TrEMBL
      A0A804HKB7
      Related
      ENSP00000261201.4, ENST00000261201.10
      Conserved Domains (1) summary
      cl26602
      Location:2221541
      SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]
    4. NM_020297.4NP_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, AC084806, KF459680, KF495813, KF570253
      Consensus CDS
      CCDS8693.1
      UniProtKB/TrEMBL
      A0A804HKB7
      Related
      ENSP00000261200.4, ENST00000261200.9
      Conserved Domains (1) summary
      TIGR00957
      Location:2221546
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      21797389..21941426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005253288.5XP_005253345.1  ATP-binding cassette sub-family C member 9 isoform X1

      See identical proteins and their annotated locations for XP_005253345.1

      UniProtKB/TrEMBL
      A0A804HKB7
      Conserved Domains (1) summary
      TIGR00957
      Location:2221546
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)
    2. XM_005253290.5XP_005253347.1  ATP-binding cassette sub-family C member 9 isoform X3

      UniProtKB/TrEMBL
      A0A804HKB7
      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_005253289.5XP_005253346.1  ATP-binding cassette sub-family C member 9 isoform X2

      UniProtKB/TrEMBL
      A0A804HKB7
      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_011520545.4XP_011518847.1  ATP-binding cassette sub-family C member 9 isoform X1

      See identical proteins and their annotated locations for XP_011518847.1

      UniProtKB/TrEMBL
      A0A804HKB7
      Conserved Domains (1) summary
      TIGR00957
      Location:2221546
      MRP_assoc_pro; multi drug resistance-associated protein (MRP)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      21676073..21820886 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370717.1XP_054226692.1  ATP-binding cassette sub-family C member 9 isoform X1

    2. XM_054370718.1XP_054226693.1  ATP-binding cassette sub-family C member 9 isoform X1

    3. XM_054370720.1XP_054226695.1  ATP-binding cassette sub-family C member 9 isoform X3

    4. XM_054370719.1XP_054226694.1  ATP-binding cassette sub-family C member 9 isoform X2

    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.