ABCC9 (ATP binding cassette subfamily C member 9)

Gene

• Entrez ID: 10060
• Gene name: ATP binding cassette subfamily C member 9
• Gene symbol: ABCC9
• Synonyms: ABC37, ATFB12, CANTU, CMD1O, SUR2
• 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, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]

SNPs

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
rs184123387	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs193922683	G>A	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant
rs201226082	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs373890183	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs374659816	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant
rs387907208	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs387907209	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs387907210	C>T	Pathogenic	Missense variant, coding sequence variant
rs387907211	G>A	Pathogenic	Missense variant, coding sequence variant
rs387907227	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs387907228	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs387907229	A>G	Pathogenic	Missense variant, coding sequence variant
rs387907230	G>A	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs760889253	G>A,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs764155671	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs786205475	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1001916923	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1024095026	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516044	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521640	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691589	A>G	Likely-pathogenic	Splice donor variant
rs1555100687	A>G	Likely-pathogenic	Splice donor variant
rs1565477732	C>T	Likely-pathogenic	Splice donor variant
rs1592166720	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021601	hsa-miR-142-3p	Microarray	17612493
MIRT626307	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT626308	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT626309	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT626310	hsa-miR-3978	HITS-CLIP	23824327
MIRT626311	hsa-miR-6124	HITS-CLIP	23824327
MIRT626312	hsa-miR-3148	HITS-CLIP	23824327
MIRT626313	hsa-miR-890	HITS-CLIP	23824327
MIRT626314	hsa-miR-4511	HITS-CLIP	23824327
MIRT626315	hsa-miR-3133	HITS-CLIP	23824327

Gene ontology (GO)

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
GO:0008282	Component	Inward rectifying potassium channel	IDA	20610380
GO:0008282	Component	Inward rectifying potassium channel	ISS
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	NAS	28842488
GO:0015459	Function	Potassium channel regulator activity	ISS
GO:0016020	Component	Membrane	IBA	21873635
GO:0016887	Function	ATPase activity	IDA	26181369
GO:0019829	Function	ATPase-coupled cation transmembrane transporter activity	ISS
GO:0022857	Function	Transmembrane transporter activity	ISS	26621776
GO:0030017	Component	Sarcomere	IEA
GO:0031004	Component	Potassium ion-transporting ATPase complex	ISS
GO:0033198	Process	Response to ATP	IMP	24439875
GO:0033198	Process	Response to ATP	ISS	26621776
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0044325	Function	Ion channel binding	IPI	20610380
GO:0051607	Process	Defense response to virus	IMP	18026101
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0055085	Process	Transmembrane transport	TAS
GO:0061337	Process	Cardiac conduction	IMP	24439875
GO:0071805	Process	Potassium ion transmembrane transport	IMP	24439875
GO:0071805	Process	Potassium ion transmembrane transport	NAS	28842488
GO:0098655	Process	Cation transmembrane transport	ISS	26621776
GO:0098662	Process	Inorganic cation transmembrane transport	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653
GO:1903779	Process	Regulation of cardiac conduction	TAS
GO:1990573	Process	Potassium ion import across plasma membrane	ISS

Other IDs

• MIM: 601439
• HGNC: 60
• e!Ensembl: 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.
• 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
  FMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAII
  SVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTR
  RLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILG
  EMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQR
  YKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFS
  ALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQ
  TKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEE
  EDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTS
  EYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGP
  IRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALL
  PLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLE
  LTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITN
  YLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVR
  YENNLKPVLKHVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKL
  PLHTLRSRLSIILQDPILFSGSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDA
  VVTEGGENFSVGQRQLFCLARAFVRKSSILIMDEATASIDMATENILQKVVMTAFADRTV
  VTIAHRVSSIMDAGLVLVFSEGILVECDTVPNLLAHKNGLFSTLVMTNK

• Sequence length: 1549