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ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 [ Homo sapiens (human) ]

Gene ID: 10060, updated on 15-Nov-2014
Official Symbol
ABCC9provided by HGNC
Official Full Name
ATP-binding cassette, sub-family C (CFTR/MRP), member 9provided by HGNC
Primary source
HGNC:HGNC:60
See related
Ensembl:ENSG00000069431; HPRD:03258; 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]
See ABCC9 in Epigenomics, MapViewer
Location:
12p12.1
Exon count:
43
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (21797389..21941863, 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 LOC102724261 Neighboring gene potassium inwardly-rectifying channel, subfamily J, member 8 Neighboring gene uncharacterized LOC102724274 Neighboring gene thioesterase superfamily member 4 pseudogene 1 Neighboring gene cytidine monophosphate N-acetylneuraminic acid synthetase

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...
  • 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...
  • 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 IEA
Inferred from Electronic Annotation
more info
 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
potassium channel activity IEA
Inferred from Electronic Annotation
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 catabolic process 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 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
synaptic transmission TAS
Traceable Author Statement
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
ATP-sensitive potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
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 sub-family C member 9
sulfonylurea receptor 2
ATP-binding cassette transporter sub-family C member 9

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 

    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 proteins identical to 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/TrEMBL
    A0A024RAV7
    UniProtKB/Swiss-Prot
    O60706
    Related
    ENSP00000261201, OTTHUMP00000240078, ENST00000261201, 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)
    pfam00664
    Location:9941266
    ABC_membrane; ABC transporter transmembrane region
  2. NM_020297.3NP_064693.2  ATP-binding cassette sub-family C member 9 isoform SUR2B

    See proteins identical to 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, OTTHUMP00000240076, ENST00000261200, 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)
    pfam00664
    Location:9941266
    ABC_membrane; ABC transporter transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    21723876..21863675
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    21797389..21941863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253288.2XP_005253345.1  

    See proteins identical to 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)
    pfam00664
    Location:9941266
    ABC_membrane; ABC transporter transmembrane region
  2. XM_005253290.2XP_005253347.1  

    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)
    pfam00664
    Location:9471219
    ABC_membrane; ABC transporter transmembrane region
    cl17201
    Location:672842
    ABC_ATPase; ATP-binding cassette transporter nucleotide-binding domain
  3. XM_005253289.2XP_005253346.1  

    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:2211523
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:9811253
    ABC_membrane; ABC transporter transmembrane region
  4. XM_005253284.2XP_005253341.1  

    See proteins identical to 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)
    pfam00664
    Location:9941266
    ABC_membrane; ABC transporter transmembrane region
  5. XM_005253286.2XP_005253343.1  

    See proteins identical to 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)
    pfam00664
    Location:9941266
    ABC_membrane; ABC transporter transmembrane region
  6. XM_006719025.1XP_006719088.1  

    See proteins identical to 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)
    pfam00664
    Location:9811253
    ABC_membrane; ABC transporter transmembrane region
  7. XM_005253287.2XP_005253344.1  

    See proteins identical to XP_005253344.1

    UniProtKB/TrEMBL
    A0A024RAV7
    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:2211534
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:9941266
    ABC_membrane; ABC transporter transmembrane region
  8. XM_005253291.2XP_005253348.1  

    Conserved Domains (4) summary
    cd03290
    Location:672889
    ABCC_SUR1_N; ATP-binding cassette domain of the sulfonylurea receptor, subfamily C
    COG1122
    Location:671899
    CbiO; ABC-type cobalt transport system, ATPase component [Inorganic ion transport and metabolism]
    COG1132
    Location:9791228
    MdlB; ABC-type multidrug transport system, ATPase and permease components [Defense mechanisms]
    pfam00664
    Location:9941228
    ABC_membrane; ABC transporter transmembrane region

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    21915604..22054751
    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.