Gene Gene information from NCBI Gene database.
Entrez ID 10060
Gene name ATP binding cassette subfamily C member 9
Gene symbol ABCC9
Synonyms (NCBI Gene)
ABC37ATFB12CANTUCMD1OIDMYSSUR2
Chromosome 12
Chromosome location 12p12.1
Summary 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.
29
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.
1228
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
96
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601439 60 ENSG00000069431
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2279
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ABCC9-related disorder Likely pathogenic; Pathogenic rs2541079837, rs387907208, rs387907209 RCV004529304
RCV004545734
RCV003335056
Cardiomyopathy Likely pathogenic; Pathogenic rs193922683 RCV000029276
Cardiovascular phenotype Likely pathogenic; Pathogenic rs2541736804, rs779793300, rs387907228 RCV002354026
RCV005375206
RCV002321487
Dilated cardiomyopathy 1O Pathogenic; Likely pathogenic rs1945475029, rs1945477588, rs141025897, rs1948627474, rs2137444128, rs2137529749, rs2137837524, rs2137852356, rs182537028, rs2137748028, rs2137876114, rs2137868283, rs1403772538, rs2137691313, rs2137874802
View all (39 more)
RCV001327396
RCV001322977
RCV001349138
RCV001338361
RCV001366784
RCV001954495
RCV001985412
RCV002030384
RCV001927813
RCV001962063
RCV001884941
RCV001939935
RCV001906363
RCV002025280
RCV002035708
RCV002003783
RCV001895438
RCV001963699
RCV001866740
RCV003619762
RCV003080400
RCV002816021
RCV002833758
RCV002861919
RCV002870826
RCV002852468
RCV002857794
RCV002957229
RCV002995528
RCV003036299
RCV000008640
RCV000230989
RCV003619914
RCV003620702
RCV003621015
RCV003621175
RCV003621303
RCV003621476
RCV000461842
RCV000546897
RCV000559460
RCV001216671
RCV000809546
RCV000795388
RCV000524623
RCV000824474
RCV004768708
RCV001043338
RCV001038306
RCV001202304
RCV001237321
RCV001231496
RCV001238845
RCV001296572
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arrhythmogenic right ventricular cardiomyopathy Conflicting classifications of pathogenicity; Uncertain significance rs869025349, rs869025348, rs148174226, rs201279882 RCV000449617
RCV000208233
RCV000852671
RCV000852673
Atrial fibrillation, familial, 12 Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; not provided; Benign rs1941745235, rs752450127, rs1948578084, rs567016348, rs749668601, rs1270249014, rs2137747839, rs755542764, rs2137173765, rs146942382, rs730880370, rs727502874, rs727504612, rs727505161, rs777591544
View all (42 more)
RCV002499623
RCV001332659
RCV002493738
RCV002476809
RCV002488509
RCV002490189
RCV002484559
RCV002484891
RCV002496156
RCV002483340
RCV002484956
RCV000765080
RCV002505173
RCV002492598
RCV004556850
RCV002478542
RCV000850523
RCV002485098
RCV002500446
RCV002485164
RCV005415556
RCV002492822
RCV002500706
RCV002487076
RCV003984906
RCV002502574
RCV002488870
RCV003224282
RCV000023103
RCV002496784
RCV002490917
RCV005411484
RCV002497123
RCV000578509
RCV002491294
RCV002506461
RCV002483828
RCV002507090
RCV000765079
RCV002477472
RCV002482998
RCV002496612
RCV002490525
RCV002477104
RCV005007959
RCV002485773
RCV002499275
RCV002501199
RCV002479167
RCV002481768
RCV002479168
RCV002479365
RCV003333130
RCV002497352
RCV002489611
RCV002480771
RCV002493611
Breast ductal adenocarcinoma Uncertain significance rs869025242 RCV000207134
Brugada syndrome Conflicting classifications of pathogenicity rs185235724 RCV000577954
Associations from Text MiningDisease 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