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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
80
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ABCC9-related disorder Likely pathogenic; Pathogenic rs2541079837, rs387907208, rs387907209 RCV004529304
RCV004545734
RCV003335056
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy Likely pathogenic; Pathogenic rs193922683 RCV000029276
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype Likely pathogenic; Pathogenic rs2541736804, rs779793300, rs387907228 RCV002354026
RCV005375206
RCV002321487
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (49 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ACROMEGALOID FACIAL APPEARANCE SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaloid facial appearance syndrome Acromegaloid facial appearance syndrome ORPHANET_DG 23307537
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acromegaloid facial appearance syndrome Acromegaloid facial appearance syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 26115089, 28131462 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29492846
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 29492846 Associate
★☆☆☆☆
Found in Text Mining only
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 27707468, 36008935 Associate
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy Pubtator 36008935 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis, Gouty Gouty arthritis GWASCAT_DG 22179738
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30655622
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 30655622 Associate
★☆☆☆☆
Found in Text Mining only