Property Summary

NCBI Gene PubMed Count 204
Grant Count 287
R01 Count 197
Funding $30,352,144.32
PubMed Score 827.30
PubTator Score 565.03

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (46)

Disease Z-score Confidence
Hyperinsulinemic hypoglycemia 17 6.116 3.1
Hyperinsulinism 63 6.009 3.0
Hypoglycemia 81 5.564 2.8
diabetes mellitus 1,663 5.387 2.7
Pancreatic agenesis 14 4.051 2.0
maturity-onset diabetes of the young 28 3.956 2.0
Beckwith-Wiedemann syndrome 46 3.756 1.9
Hyperglycemia 120 3.749 1.9
Insulinoma 20 3.64 1.8
Epilepsy 346 3.247 1.6
Munchausen by proxy 2 3.038 1.5
Alzheimer's disease 644
Carcinoma 2,147 1.0
Colorectal Neoplasms 217
Congenital Hyperinsulinism 3
DIABETES MELLITUS, PERMANENT NEONATAL 5
DIABETES MELLITUS, PERMANENT NEONATAL, W... 2 
DIABETES MELLITUS, TRANSIENT NEONATAL, 2... 1 
Diabetes Mellitus, Insulin-Dependent 76
Diabetes Mellitus, Non-Insulin-Dependent 157
Diabetes mellitus type 2 69
Diagnostic Test for Pancreatic Islet Cel... 2 
Endometriosis 535
Hyperinsulinemic hypoglycemia, familial,... 1 
Hypertensive Emergencies 10
Hypertensive urgency 10
Hypoglycemia, leucine-induced 1
Islet cell hyperplasia 2
Neonatal diabetes mellitus 6
Pick disease 1,893
Treatment Refractory Type 2 Diabetes Mel... 53 
adult high grade glioma 2,148
atypical teratoid / rhabdoid tumor 4,369
facioscapulohumeral dystrophy 286
fibroadenoma 557
gastric carcinoma 832
glioblastoma 5,572
lung carcinoma 2,844
oligodendroglioma 2,849
pituitary cancer 1,972
posterior fossa group B ependymoma 1,530
primary pancreatic ductal adenocarcinoma 1,271
primitive neuroectodermal tumor 3,031
psoriasis 6,685
sonic hedgehog group medulloblastoma 1,482
subependymal giant cell astrocytoma 2,287

Expression

  Differential Expression (18)

Synonym

Accession Q09428 A6NMX8 E3UYX6 O75948 Q16583
Symbols HI
SUR
HHF1
MRP8
PHHI
SUR1
ABC36
HRINS
TNDM2
SUR1delta2

Gene

Gene RIF (176)

PMID Text
26431509 HNF1A gene mutations represented the second most frequent genetic cause of congenital hyperinsulinism of infancy in the Czech Republic
26398596 up-regulation of SUR1 in humans point to this channel as one of the important molecular players in the pathophysiology of Post-traumatic brain contusions
26268944 in a cohort of hyperinsulinemic hypoglycemia patients from Isfahan, Iran, 78% were noted to have disease-causing mutations: 48% had HADH mutations and 26% had ABCC8 mutations.
26246406 genome-wide association studies in population of Pima Indians in Arizona: Data suggest that R1420H loss-of-function variant in ABCC8 is associated with higher birth weights and twofold increased risk for type 2 diabetes with 7-year earlier onset age.
26181369 single amino acid difference can account for the markedly different diazoxide sensitivities between channels containing either the SUR1 or SUR2A subunit isoforms.
26172285 these data suggest an important role for the Sur1-Trpm4 channel in the pathophysiology of postischemic cell death
26092864 A study of mutations in the ABCC8 gene that cause congenital hyperinsulinism demonstrate a clear functional distinction between SUR1 nucleotide-binding domain two (NBD2) and transmembrane domain (TMD) mutants
25955821 These calculations identified causal genetic variation within the ABCC8/KCNJ11 region for type 2 diabetes mellitus.
25781672 Mutations in ABCC8 are associated with neonatal diabetes mellitus.
25765446 study investigated mutations in the KATP channel genes, allelic copy number and imprinting status at 11p15 in patients with congenital hyperinsulinism (CHI); found epigenetic alteration at the 11p15 region plays a central role in developing focal CHI by paternally derived mutations of the KATP channel and maternal allelic loss at this region
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AA Sequence

MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFPILFIGWGSQSSKVHIHHSTWLHFPG      1 - 70
HNLRWILTFMLLFVLVCEIAEGILSDGVTESHHLHLYMPAGMAFMAAVTSVVYYHNIETSNFPKLLIALL     71 - 140
VYWTLAFITKTIKFVKFLDHAIGFSQLRFCLTGLLVILYGMLLLVEVNVIRVRRYIFFKTPREVKPPEDL    141 - 210
QDLGVRFLQPFVNLLSKGTYWWMNAFIKTAHKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQG    211 - 280
TQGARAIWQALSHAFGRRLVLSSTFRILADLLGFAGPLCIFGIVDHLGKENDVFQPKTQFLGVYFVSSQE    281 - 350
FLANAYVLAVLLFLALLLQRTFLQASYYVAIETGINLRGAIQTKIYNKIMHLSTSNLSMGEMTAGQICNL    351 - 420
VAIDTNQLMWFFFLCPNLWAMPVQIIVGVILLYYILGVSALIGAAVIILLAPVQYFVATKLSQAQRSTLE    421 - 490
YSNERLKQTNEMLRGIKLLKLYAWENIFRTRVETTRRKEMTSLRAFAIYTSISIFMNTAIPIAAVLITFV    491 - 560
GHVSFFKEADFSPSVAFASLSLFHILVTPLFLLSSVVRSTVKALVSVQKLSEFLSSAEIREEQCAPHEPT    561 - 630
PQGPASKYQAVPLRVVNRKRPAREDCRGLTGPLQSLVPSADGDADNCCVQIMGGYFTWTPDGIPTLSNIT    631 - 700
IRIPRGQLTMIVGQVGCGKSSLLLAALGEMQKVSGAVFWSSLPDSEIGEDPSPERETATDLDIRKRGPVA    701 - 770
YASQKPWLLNATVEENIIFESPFNKQRYKMVIEACSLQPDIDILPHGDQTQIGERGINLSGGQRQRISVA    771 - 840
RALYQHANVVFLDDPFSALDIHLSDHLMQAGILELLRDDKRTVVLVTHKLQYLPHADWIIAMKDGTIQRE    841 - 910
GTLKDFQRSECQLFEHWKTLMNRQDQELEKETVTERKATEPPQGLSRAMSSRDGLLQDEEEEEEEAAESE    911 - 980
EDDNLSSMLHQRAEIPWRACAKYLSSAGILLLSLLVFSQLLKHMVLVAIDYWLAKWTDSALTLTPAARNC    981 - 1050
SLSQECTLDQTVYAMVFTVLCSLGIVLCLVTSVTVEWTGLKVAKRLHRSLLNRIILAPMRFFETTPLGSI   1051 - 1120
LNRFSSDCNTIDQHIPSTLECLSRSTLLCVSALAVISYVTPVFLVALLPLAIVCYFIQKYFRVASRDLQQ   1121 - 1190
LDDTTQLPLLSHFAETVEGLTTIRAFRYEARFQQKLLEYTDSNNIASLFLTAANRWLEVRMEYIGACVVL   1191 - 1260
IAAVTSISNSLHRELSAGLVGLGLTYALMVSNYLNWMVRNLADMELQLGAVKRIHGLLKTEAESYEGLLA   1261 - 1330
PSLIPKNWPDQGKIQIQNLSVRYDSSLKPVLKHVNALIAPGQKIGICGRTGSGKSSFSLAFFRMVDTFEG   1331 - 1400
HIIIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNLDPERKCSDSTLWEALEIAQLKLVVKALPGGL   1401 - 1470
DAIITEGGENFSQGQRQLFCLARAFVRKTSIFIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVH   1471 - 1540
TILSADLVIVLKRGAILEFDKPEKLLSRKDSVFASFVRADK                                1541 - 1581
//

Text Mined References (204)

PMID Year Title
26431509 2015 High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.
26398596 2015 Sulfonylurea Receptor 1 in Humans with Post-Traumatic Brain Contusions.
26268944 2015 Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
26246406 2015 ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes.
26181369 2015 Molecular determinants of ATP-sensitive potassium channel MgATPase activity: diabetes risk variants and diazoxide sensitivity.
26172285 2015 Sur1-Trpm4 Cation Channel Expression in Human Cerebral Infarcts.
26092864 2015 Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.
25955821 2015 Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type Cohort and Meta-Analysis.
25781672 2015 Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds.
25765446 2015 Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism.
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