Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10060
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily C member 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCC9
Synonyms (NCBI Gene) Gene synonyms aliases
ABC37, ATFB12, CANTU, CMD1O, IDMYS, SUR2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ATFB12, CMD1O, IDMYS
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs35857705 AAA>-,A,AA,AAAA,AAAAA,AAAAAA Benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Intron variant
rs61926078 C>A,G,T Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity Intron variant
rs113542001 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs141281214 C>T Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign Splice acceptor variant, intron variant
rs149319186 T>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021601 hsa-miR-142-3p Microarray 17612493
MIRT626315 hsa-miR-3133 HITS-CLIP 23824327
MIRT626314 hsa-miR-4511 HITS-CLIP 23824327
MIRT626313 hsa-miR-890 HITS-CLIP 23824327
MIRT626312 hsa-miR-3148 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005261 Function Cation channel activity ISS 26621776
GO:0005267 Function Potassium channel activity IMP 24439875, 26181369
GO:0005524 Function ATP binding IEA
GO:0005886 Component Plasma membrane TAS
GO:0008281 Function Sulfonylurea receptor activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601439 60 ENSG00000069431
Protein
UniProt ID O60706
Protein name ATP-binding cassette sub-family C member 9 (Sulfonylurea receptor 2)
Protein 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-
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00664 ABC_membrane 297 585 ABC transporter transmembrane region Family
PF00005 ABC_tran 688 840 ABC transporter Domain
PF00664 ABC_membrane 994 1266 ABC transporter transmembrane region Family
PF00005 ABC_tran 1329 1477 ABC transporter Domain
Sequence
MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHH
NTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIV
YYHNIETSNFPKLLLALFLYWVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLL
MAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSKATYWWMNTLIISAHK
KPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPNRTPSIWLAMYRAFGRPILLS
STFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLENAYVLAVLLFL
ALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIE
TNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEA
QKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSI
FMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPL
FLLSTVVRFAVKAII
SVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTR
RLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILG
EMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQR
YKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFS

ALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQ
TKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEE
EDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTS
EYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGP
IRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALL
PLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLE
LTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITN
YLNWVV
RNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVR
YENNLKPVLKHVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKL
PLHTLRSRLSIILQDPILFSGSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDA
VVTEGGENFSVGQRQLFCLARAFVRKSSILIMDEATA
SIDMATENILQKVVMTAFADRTV
VTIAHRVSSIMDAGLVLVFSEGILVECDTVPNLLAHKNGLFSTLVMTNK
Sequence length 1549
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Myopathy dilated cardiomyopathy 1O, dilated cardiomyopathy GenCC
Mental retardation intellectual disability and myopathy syndrome GenCC
Atrial Fibrillation atrial fibrillation, familial, 12 GenCC
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33879658
Adrenal Cortex Diseases Associate 27003218
Alzheimer Disease Associate 26115089, 28131462
Amyotrophic Lateral Sclerosis Associate 29492846
Arrhythmias Cardiac Associate 27707468, 36008935
Arrhythmogenic Right Ventricular Dysplasia Associate 36008935
Arteriolosclerosis Associate 26597697, 26738751
Asthma Associate 30655622
Atrial Fibrillation Associate 17245405
Atrophy Associate 27003218