ABCC9
entrez
10060
canonical
uniprot
O60706
canonical
ensembl
ENSG00000069431
resolver
ensp
ENSP00000261200
resolver
ensp
ENSP00000261201
resolver
ensp
ENSP00000440521
resolver
ensp
ENSP00000549246
resolver
ensp
ENSP00000549247
resolver
ensp
ENSP00000549248
resolver
ensp
ENSP00000549249
resolver
ensp
ENSP00000615037
resolver
genesymbol
ABCC9
resolver
genesymbol_syn
SUR2
resolver
hgnc
HGNC:60
resolver
uniprot
O60707
resolver
uniprot_entry
ABCC9_HUMAN
resolver
uniprot_sec
O60707
resolver
amino_acid_sequence
MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLYWVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSKATYWWMNTLIISAHKKPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPNRTPSIWLAMYRAFGRPILLSSTFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLENAYVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIETNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTRRLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFSALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITNYLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVRYENNLKPVLKHVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKLPLHTLRSRLSIILQDPILFSGSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDAVVTEGGENFSVGQRQLFCLARAFVRKSSILIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVSSIMDAGLVLVFSEGILVECDTVPNLLAHKNGLFSTLVMTNK
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 1O (CMD1O) [MIM:608569]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:15034580}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:17245405}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]: A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability. {ECO:0000269|PubMed:22608503, ECO:0000269|PubMed:22610116, ECO:0000269|PubMed:26621776}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual disability and myopathy syndrome (IDMYS) [MIM:619719]: An autosomal recessive disorder characterized by global developmental delay, mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and white matter abnormalities on brain imaging. Variable additional features may include sensorineural hearing loss, dysmorphic facies, and progressive heart disease. {ECO:0000269|PubMed:31575858}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation (PubMed:9831708). Can form a sulfonylurea-sensitive but ATP-insensitive potassium channel with KCNJ8 (By similarity). {ECO:0000250|UniProtKB:P70170, ECO:0000269|PubMed:9831708}.
uniprot
proteins
mass_dalton
174223
uniprot
proteins
protein_family
ABC transporter superfamily
uniprot
proteins
protein_family
ABCC family
uniprot
proteins
protein_family
Conjugate transporter (TC 3.A.1.208) subfamily
uniprot
proteins
pubmed
15034580
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17245405
uniprot
proteins
pubmed
22105623
uniprot
proteins
pubmed
22608503
uniprot
proteins
pubmed
22610116
uniprot
proteins
pubmed
26621776
uniprot
proteins
pubmed
31303265
uniprot
proteins
pubmed
31575858
uniprot
proteins
pubmed
9457174
uniprot
proteins
pubmed
9831708
uniprot
proteins
sequence_length
1549
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255|PROSITE-ProRule:PRU00441}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441}.
uniprot
proteins
transmembrane_region
TRANSMEM 31..51; /note="Helical; Name=1"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 73..93; /note="Helical; Name=2"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 102..122; /note="Helical; Name=3"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 133..153; /note="Helical; Name=4"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 168..188; /note="Helical; Name=5"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 302..322; /note="Helical; Name=6"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 351..371; /note="Helical; Name=7"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 424..444; /note="Helical; Name=8"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 456..476; /note="Helical; Name=9"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 532..552; /note="Helical; Name=10"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 572..592; /note="Helical; Name=11"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 991..1011; /note="Helical; Name=12"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 1035..1055; /note="Helical; Name=13"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 1128..1148; /note="Helical; Name=14"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 1246..1266; /note="Helical; Name=15"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441
uniprot
proteins