Property Summary

NCBI Gene PubMed Count 61
PubMed Score 37.87
PubTator Score 84.94

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Expression

  Differential Expression (13)

Disease log2 FC p
posterior fossa group B ependymoma 2.800 3.0e-13
pancreatic ductal adenocarcinoma liver m... -1.104 1.1e-03
lung cancer -3.300 9.7e-05
colon cancer -1.300 5.2e-03
lung adenocarcinoma -1.500 2.1e-12
atypical teratoid/rhabdoid tumor 1.500 5.0e-03
non primary Sjogren syndrome sicca -1.400 1.9e-02
lung carcinoma -1.200 9.7e-09
non-small cell lung carcinoma -1.400 1.8e-24
ductal carcinoma in situ -1.400 3.0e-03
invasive ductal carcinoma -1.400 1.8e-02
ovarian cancer -2.200 8.1e-07
Gaucher disease type 3 -2.400 2.7e-02

Protein-protein Interaction (2)

Gene RIF (32)

PMID Text
26181369 single amino acid difference can account for the markedly different diazoxide sensitivities between channels containing either the SUR1 or SUR2A subunit isoforms.
26115089 We describe novel ABCC9 variants in human brain, corresponding to altered 3'UTR length, which could lead to targeting by miR-30c
25470345 This study confirmed that specific ABCC9 single-nucleotide polymorphisms is associated with HS-Aging pathology in the Alzheimer disease.
24770881 Results show that a polymorphism in ABCC9 is associated with aging pathology, and exposure to sulfonylurea drugs is associated with increased risk for aging pathology among individuals who died age 85 and older
24439875 ABCC9 is a susceptibility gene for early repolarization syndrome and Brugada syndrome.
23739550 A mutation (V734I) in ABCC9 increases susceptibility to coronary spasm and acute myocardial infarction.
23307537 two different de novo missense mutations in the two patients with coarse facial features and hypertrichosis
22610116 Electrophysiological experiments show that mutations in ABCC9, associated with Cantu syndrome, reduce the ATP-mediated potassium channel inhibition, resulting in channel opening.
22608503 Cantu syndrome is caused by mutations in ABCC9
22105623 This study showed that variants in the SUR2 gene (ABCC9) associate with epidemiological variation in human sleep duration, which is also influenced by inter-individual differences in seasonal adaptation and chronotype.
20847183 mammalian oocytes express K(ATP) channels. Real-time PCR revealed that mRNA for Kir6.1, Kir6.2, SUR2A and SUR2B, were present in human oocytes of different stages.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20474083 Observational study of genetic testing. (HuGE Navigator)
19962959 These findings suggest that abnormal localization of the SUR2A K(+) channel protein leads to reduced K(ATP) channel activity in familial hypokalemic periodic paralysis.
19952277 sequence variants in ABCC9 is unlikely to contribute to variation in postural change in systolic blood pressure
19952277 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19481058 caveolin-3 negatively regulates Kir6.2/SUR2A channel function.
19343046 Observational study of gene-disease association. (HuGE Navigator)
18996111 Kir6.1/SUR2B is the major functional K(ATP) channel complex in the pig MMA and MCA, and mRNA expression studies suggest that the human MMA shares this K(ATP) channel subunit profile
18663158 caveolin-dependent internalization is involved in PKC-epsilon-mediated inhibition of vascular K(ATP) channels (Kir6.1 and SUR2B) by phorbol 12-myristate 13-acetate or angiotensin II
18239147 review the structure and function of ABC proteins and discuss SUR, its regulation of the K(ATP) channel, and its role in cardiovascular disease.
16820413 Results describe a new function of the Kir6.1-SUR2A complex, namely the regulation of paracellular permeability through tight junctions.
16672225 Syntaxin-1A actions on sulfonylurea receptor 2A blocks acidic pH-induced cardiac K(ATP) channel activation
16563363 Observational study of gene-disease association. (HuGE Navigator)
16563363 newly discovered 734Ile allele in ABCC9 might influence susceptibility to precocious myocardial infarct in our population
16267564 Syn-1A binds both NBFs of SUR1 and SUR2A but appears to exhibit distinct interactions with NBF2 of these SUR proteins in modulating the KATP channels in islet beta cells and cardiac myocytes
15339904 Syn-1A binds both NBFs of SUR1 and SUR2A but appears to exhibit distinct interactions with NBF2 of these SUR proteins in modulating the KATP channels in islet beta cells and cardiac myocytes
15034580 role of mutation in human dilated cardiomyopathy and effect on KATP channel gating
12934053 In corporal smooth muscle is composed of Kir6.1-Kir6.2 construct expressed with SUR2B.K(ATP) channel in corporal smooth muscle cells is composed of heteromultimers of Kir6.1 and Kir6.2 with the ratio of 3 : 1 or 4 : 0 and SUR2B.
12356945 down-regulation of this channel may facilitate myometrial function during late pregnancy
11825905 Assembly limits the pharmacological complexity of ATP-sensitive potassium channels

AA Sequence

MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHN      1 - 70
LRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLY     71 - 140
WVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQD    141 - 210
LGVRFLQPFVNLLSKATYWWMNTLIISAHKKPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPN    211 - 280
RTPSIWLAMYRAFGRPILLSSTFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLEN    281 - 350
AYVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIE    351 - 420
TNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTE    421 - 490
RLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAY    491 - 560
ASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGDDSWRTGESSLPFES    561 - 630
CKKHTGVQPKTINRKQPGRYHLDSYEQSTRRLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQL    631 - 700
TMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENI    701 - 770
TFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFS    771 - 840
ALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHW    841 - 910
KTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWK    911 - 980
TCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLC    981 - 1050
LVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLL   1051 - 1120
CLSAIGMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRH   1121 - 1190
ETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITN   1191 - 1260
YLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVRYENNLKPVLK   1261 - 1330
HVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKLPLHTLRSRLSIILQDPILFS   1331 - 1400
GSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDAVVTEGGENFSVGQRQLFCLARAFVRKSSIL   1401 - 1470
IMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVSSIMDAGLVLVFSEGILVECDTVPNLLAHKNGL   1471 - 1540
FSTLVMTNK                                                                1541 - 1549
//

Text Mined References (63)

PMID Year Title
26621776 2015 Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.
26181369 2015 Molecular determinants of ATP-sensitive potassium channel MgATPase activity: diabetes risk variants and diazoxide sensitivity.
26115089 2015 Novel human ABCC9/SUR2 brain-expressed transcripts and an eQTL relevant to hippocampal sclerosis of aging.
25470345 2015 Reassessment of risk genotypes (GRN, TMEM106B, and ABCC9 variants) associated with hippocampal sclerosis of aging pathology.
24770881 2014 ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
24439875 2014 ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.
23739550 2013 Coronary spasm and acute myocardial infarction due to a mutation (V734I) in the nucleotide binding domain 1 of ABCC9.
23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.
22608503 2012 Cantú syndrome is caused by mutations in ABCC9.
22105623 2013 A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila.
20847183 2010 Human oocytes express ATP-sensitive K(+) channels.
20664073 2010 Muscle KATP channels: recent insights to energy sensing and myoprotection.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20610380 2010 Ankyrin-B regulates Kir6.2 membrane expression and function in heart.
20600101 2010 Gender-related differences in ion-channel and transporter subunit expression in non-diseased human hearts.
20474083 2010 A novel custom resequencing array for dilated cardiomyopathy.
20033705 2010 Human K(ATP) channelopathies: diseases of metabolic homeostasis.
19962959 2010 Reduced expression and abnormal localization of the K(ATP) channel subunit SUR2A in patients with familial hypokalemic periodic paralysis.
19952277 2010 Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KCNJ8 and ABCC9.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19729596 2009 Endogenous activation of mitochondrial KATP channels protects human failing myocardium from hydroxyl radical-induced stunning.
19607836 2010 Cardiac sarcolemmal K(ATP) channels: Latest twists in a questing tale!
19481058 2009 Caveolin-3 negatively regulates recombinant cardiac K(ATP) channels.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
18996111 2008 K ATP channels in pig and human intracranial arteries.
18936737 2008 Gene expression profiling of ABC transporters in dermal fibroblasts of pseudoxanthoma elasticum patients identifies new candidates involved in PXE pathogenesis.
18663158 2008 Protein kinase C-epsilon induces caveolin-dependent internalization of vascular adenosine 5'-triphosphate-sensitive K+ channels.
18239147 2008 The sulfonylurea receptor, an atypical ATP-binding cassette protein, and its regulation of the KATP channel.
18026101 2007 ATP-sensitive potassium channels mediate survival during infection in mammals and insects.
17245405 2007 KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.
16820413 2006 K+-ATP-channel-related protein complexes: potential transducers in the regulation of epithelial tight junction permeability.
16672225 2006 Syntaxin-1A actions on sulfonylurea receptor 2A can block acidic pH-induced cardiac K(ATP) channel activation.
16563363 2006 A novel Val734Ile variant in the ABCC9 gene associated with myocardial infarction.
16541075 2006 The finished DNA sequence of human chromosome 12.
16267564 2006 A haplotype in the human Sur2 gene is associated with essential hypertension.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15339904 2004 Syntaxin-1A inhibits cardiac KATP channels by its actions on nucleotide binding folds 1 and 2 of sulfonylurea receptor 2A.
15034580 2004 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12934053 2003 Molecular basis and characteristics of KATP channel in human corporal smooth muscle cells.
12738227 2003 Distribution of Kir6.0 and SUR2 ATP-sensitive potassium channel subunits in isolated ventricular myocytes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12356945 2002 Expression of mRNA transcripts for ATP-sensitive potassium channels in human myometrium.
12189208 2002 Identification of a transcriptionally active peroxisome proliferator-activated receptor alpha -interacting cofactor complex in rat liver and characterization of PRIC285 as a coactivator.
12145195 2002 M-LDH serves as a sarcolemmal K(ATP) channel subunit essential for cell protection against ischemia.
12107410 2002 Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.
11825905 2002 Assembly limits the pharmacological complexity of ATP-sensitive potassium channels.
11136227 2001 A mechanism for ATP-sensitive potassium channel diversity: Functional coassembly of two pore-forming subunits.
11054556 2000 Molecular characterization of human SUR2-containing K(ATP) channels.
11007308 2000 The properties of the Kir6.1-6.2 tandem channel co-expressed with SUR2A.
10625598 2000 Pharmaco-topology of sulfonylurea receptors. Separate domains of the regulatory subunits of K(ATP) channel isoforms are required for selective interaction with K(+) channel openers.
10498831 1999 Structural requirements of sulphonylureas and analogues for interaction with sulphonylurea receptor subtypes.
10497157 1999 Identification of the potassium channel opener site on sulfonylurea receptors.
10093054 1999 Physical association between recombinant cardiac ATP-sensitive K+ channel subunits Kir6.2 and SUR2A.
9831708 1998 Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells.
9755153 1998 Potassium channel openers require ATP to bind to and act through sulfonylurea receptors.
9714850 1998 Intracellular nucleotide-mediated gating of SUR/Kir6.0 complex potassium channels expressed in a mammalian cell line and its modification by pinacidil.
9692785 1998 SUR2 subtype (A and B)-dependent differential activation of the cloned ATP-sensitive K+ channels by pinacidil and nicorandil.
9457174 1998 Toward understanding the assembly and structure of KATP channels.
8826984 1996 Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular KATP channels.
8630239 1996 A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels.