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

Gene ID: 10060, updated on 3-Apr-2024

Summary

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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
mouse all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Novel cholesterol-dependent regulation of cardiac K(ATP) subunit expression revealed using histone deacetylase inhibitors. Geiger R, et al. Physiol Rep, 2021 Jan. PMID 33356020, Free PMC Article
  2. Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants. Kortüm F, et al. Eur J Med Genet, 2020 Sep. PMID 32622958
  3. Novel variants of ABCC9 in Japanese children with Cantú syndrome. Kubota K, et al. Pediatr Int, 2020 Mar. PMID 32198910
  4. Gene-based association study of genes linked to hippocampal sclerosis of aging neuropathology: GRN, TMEM106B, ABCC9, and KCNMB2. Katsumata Y, et al. Neurobiol Aging, 2017 May. PMID 28131462, Free PMC Article
  5. De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder. Afifi HH, et al. Pediatr Dermatol, 2016 Mar-Apr. PMID 26871653

See all (83) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Vascular KATP channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.
    Title: Vascular K(ATP) channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.
  2. Novel cholesterol-dependent regulation of cardiac KATP subunit expression revealed using histone deacetylase inhibitors.
    Title: Novel cholesterol-dependent regulation of cardiac K(ATP) subunit expression revealed using histone deacetylase inhibitors.
  3. The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia.
    Title: The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia.
  4. Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.
    Title: Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.
  5. Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
    Title: Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
  6. Cantu syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
    Title: Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
  7. Novel variants of ABCC9 in Japanese children with Cantu syndrome.
    Title: Novel variants of ABCC9 in Japanese children with Cantú syndrome.
  8. Three-dimensional facial morphology in Cantu syndrome.
    Title: Three-dimensional facial morphology in Cantú syndrome.
  9. ABCC9-related Intellectual disability Myopathy Syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.
    Title: ABCC9-related Intellectual disability Myopathy Syndrome is a K(ATP) channelopathy with loss-of-function mutations in ABCC9.
  10. Significant gene-based association between the ABCC9 gene and hippocampal sclerosis-aging appeared to be driven by a region in which a significant haplotype-based association.
    Title: Gene-based association study of genes linked to hippocampal sclerosis of aging neuropathology: GRN, TMEM106B, ABCC9, and KCNMB2.
Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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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)

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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_001377273.1 → NP_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:222 → 1546
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)

  2. NM_001377274.1 → NP_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:1 → 1257
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)

  3. NM_005691.4 → NP_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:222 → 1541
    SunT; ABC-type bacteriocin/lantibiotic exporters, contain an N-terminal double-glycine peptidase domain [Defense mechanisms]

  4. NM_020297.4 → NP_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:222 → 1546
    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_005253288.5 → XP_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:222 → 1546
    MRP_assoc_pro; multi drug resistance-associated protein (MRP)

  2. XM_005253290.5 → XP_005253347.1  ATP-binding cassette sub-family C member 9 isoform X3

    UniProtKB/TrEMBL
    A0A804HKB7
    Conserved Domains (4) summary
    cd03288
    Location:1263 → 1502
    ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
    TIGR01271
    Location:221 → 1489
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    cl00549
    Location:951 → 1185
    ABC_membrane; ABC transporter transmembrane region
    cl21455
    Location:672 → 842
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. XM_005253289.5 → XP_005253346.1  ATP-binding cassette sub-family C member 9 isoform X2

    UniProtKB/TrEMBL
    A0A804HKB7
    Conserved Domains (4) summary
    cd03288
    Location:1297 → 1536
    ABCC_SUR2; ATP-binding cassette domain 2 of the sulfonylurea receptor SUR
    cd03290
    Location:672 → 876
    ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C
    TIGR01271
    Location:221 → 1523
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    cl00549
    Location:985 → 1219
    ABC_membrane; ABC transporter transmembrane region

  4. XM_011520545.4 → XP_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:222 → 1546
    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_054370717.1 → XP_054226692.1  ATP-binding cassette sub-family C member 9 isoform X1

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

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

  4. XM_054370719.1 → XP_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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60706.2 GenPept UniProtKB/Swiss-Prot:O60706

Gene LinkOut

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