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
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:0000165 Process MAPK cascade IEA
GO:0000166 Function Nucleotide binding IEA
GO:0001508 Process Action potential IEA
GO:0001568 Process Blood vessel development IEA
GO:0001666 Process Response to hypoxia IEA
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
cardiomyopathy Cardiomyopathy rs193922683 N/A
Dilated Cardiomyopathy Dilated cardiomyopathy 1O rs121909304, rs1591950473, rs387907208, rs1396851699, rs387907209, rs1592166720, rs387907227, rs1415997308, rs1941815245, rs387907228, rs193922683, rs878854782, rs1555179320 N/A
Wolff-Parkinson-White Syndrome Wolff-Parkinson-White pattern rs1555100687 N/A
Kleefstra Syndrome kleefstra syndrome 1 rs387907228 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy N/A N/A ClinVar
Atrial Fibrillation atrial fibrillation, familial, 12, familial atrial fibrillation N/A N/A GenCC, ClinVar
Brugada Syndrome brugada syndrome N/A N/A ClinVar
Conduction Disorder Of The Heart conduction disorder of the heart N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
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