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FLASH GENE
Symbol ABCC9 contributors: mct - updated : 12-07-2012
HGNC name ATP-binding cassette, sub-family C (CFTR/MRP), member 9
HGNC id 60
Corresponding disease
CMD1O cardiomyopathy, dilated 1O
HCOD hypertrichotic osteochondrodysplasia
Location 12p12.1      Physical location : 21.950.325 - 22.089.628
Synonym name sulfonylurea receptor 2
Synonym symbol(s) SUR2, ABC37, ATFB12, CMD1O
DNA
TYPE anonymous DNA segment
STRUCTURE 139.31 kb     38 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
PDE3A 12p12 phosphodiesterase 3A, cGMP-inhibited SLCO1C1 12p12.3 solute carrier organic anion transporter family, member 1C1 SLCO1B3 12p12 solute carrier organic anion transporter family, member 1B3 LST-3 12p12.3 liver-specific organic anion transporter 3 SLCO1B1 12p solute carrier organic anion transporter family, member 1B1 SLCO1A2 12p12 solute carrier organic anion transporter family, member 1A2 IAPP 12p12.3-p12.2 islet amyloid polypeptide FLJ22028 12p12.3 hypothetical protein FLJ22028 RECQL 12p12-p11 RecQ protein-like (DNA helicase Q1-like) CGI-141 12p12.3 CGI-141 protein MGC10946 12p12.3 hypothetical protein MGC10946 GYS2 12p12.2 glycogen synthase 2 (liver) LDHB 12p12.2-p12.1 lactate dehydrogenase B KCNJ8 12p11.23 potassium inwardly-rectifying channel, subfamily J, member 8 ABCC9 12p12.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 CMAS 12p13.2 cytidine monophosphate N-acetylneuraminic acid synthetase SIAT8A 12p12.3-p12.2 sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase) KIAA0528 12p12.2 sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase) EKI1 12p12.3 sialyltransferase 8A (alpha-N-acetylneuraminate: alpha-2,8-sialyltransferase, GD3 synthase)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
38 splicing 8325 - 1549 brain, skeletal, cardiac and smooth muscle 2010 20553499
  • SUR2B
  • exon 38b
  • lower ATPase activity of SUR2B may result in enhanced duration of the MgADP-bound state, leading to channel activation
  • 38 splicing 4670 - 1549 cardiac and skeletal muscle 2010 20553499
  • SUR2A
  • exon 38A
  • ATPase activity harbored within NBD2 and, to a lesser degree, NBD1, with catalytically driven conformations exerting determinate linkage on the Kir6.2 channel pore
  • has a lower ATPase activity and a 10-fold lower K(m) for MgATP than SUR2A
  • - splicing 4540 - 1513 - 2000 11054556
    lack exon 14
    - splicing - - - brain, kidney, heart, skeletal muscle, small intestine 2000 11054556
    lack exon 17
    - splicing 4542 - 1513 - 2000 11054556
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Hearing/Equilibriumear   highly
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an endoplasmic retention signal
  • an anterograde signal at C terminus
  • three asymetric membrane spanning domains
  • two ABC transmembrane type-1 domains
  • two ABC transporter domains
  • HOMOLOGY
    interspecies homolog to murine Abcc9
    Homologene
    FAMILY
  • ATP binding cassette transporter superfamily
  • C-branch of the transport adenosine triphosphatase superfamily
  • CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • ABC transporter, traffic ATPase
  • drug-binding channel modulating subunit of the extrapancreatic KATP channel
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text KATP channel
    PATHWAY
    metabolism
    signaling
    a component
  • constituent with KIR6.1 (KCNJ8) of an ATP dependent potassium channel in extrapancreatic tissues SUR2A/KCNJ11 and SUR2B/KCNJ8
  • constituting cardiac and vascular smooth muscle type KATP channel
  • INTERACTION
    DNA
    RNA
    small molecule
    protein KIR6.1 (KCNJ8) binding
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMD1O , HCOD
    Susceptibility to precocious myocardial infarction
    Variant & Polymorphism a Val734Ile variant associated with myocardial infarction
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    ABCC9 -/- mice display enhanced insulin-stimulated glucose uptake in skeletal muscle