Property Summary

NCBI Gene PubMed Count 61
PubMed Score 37.87
PubTator Score 84.94

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (9)

Disease Target Count
Alopecia 55
Hypertensive disorder 58
Disease Target Count P-value
non-small cell lung carcinoma 413 1.76984315956669E-24
posterior fossa group B ependymoma 1530 2.9921135206269E-13
lung adenocarcinoma 2714 2.0759702264059E-12
lung carcinoma 2844 9.7219548946798E-9
ovarian cancer 8492 8.10402671475903E-7
lung cancer 4473 9.70629386428894E-5
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00111463128650408
ductal carcinoma in situ 1745 0.0029716910083153
atypical teratoid/rhabdoid tumor 1095 0.00497688893011732
colon cancer 1475 0.00522414276461004
invasive ductal carcinoma 2950 0.0183345360360938
non primary Sjogren syndrome sicca 840 0.0190302897410796
Gaucher disease type 3 76 0.026623409636835
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Dilated cardiomyopathy 51 0.0 5.0
Disease Target Count Z-score Confidence
Cardiomyopathy 110 0.0 4.0
Familial atrial fibrillation 16 0.0 4.0
Disease Target Count
Cardiomyopathy, dilated 1O 1

Expression

  Differential Expression (13)

Synonym

Accession O60706 O60707
Symbols SUR2
ABC37
CANTU
CMD1O
ATFB12

Gene

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Pig OMA Inparanoid
Opossum OMA Inparanoid
Chicken OMA Inparanoid

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.
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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.
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