• Gene id: 10060

Gene Summary

• Gene Symbol: ABCC9   Gene   UCSC   Ensembl
• Aliases: ABC37, ATFB12, CANTU, CMD1O, SUR2
• Gene name: ATP binding cassette subfamily C member 9
• Alternate names: ATP-binding cassette sub-family C member 9, ATP-binding cassette transporter sub-family C member 9, ATP-binding cassette, sub-family C (CFTR/MRP), member 9, sulfonylurea receptor 2,
• Gene location: 12p12.1 (21941862: 21797388)     Exons: 12     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 601439

Protein Summary

• Protein general information: O60706  
  • Name: ATP binding cassette sub family C member 9 (Sulfonylurea receptor 2)
  • Length: 1549  
  • Mass: 174223
• Sequence:

  MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWIL
  TFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLYWVMAFITKTI
  KLVKYCQSGLDISNLRFCITGMMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSK
  ATYWWMNTLIISAHKKPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPNRTPSIWLAMYRAFGRPILLS
  STFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLENAYVLAVLLFLALILQRTFLQASYYV
  TIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIETNQLMWFLFLCPNLWAMPVQIIMGVILLYN
  LLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKE
  LSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAII
  SVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTRRLRPAETEDIAIKVT
  NGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRY
  SVAYAAQKPWLLNATVEENITFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARA
  LYQNTNIVFLDDPFSALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQ
  TKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRT
  KMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLC
  LVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAI
  GMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLE
  LTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITNYLNWVVRNLADLEVQ
  MGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVRYENNLKPVLKHVKAYIKPGQKVGICGRTGS
  GKSSLSLAFFRMVDIFDGKIVIDGIDISKLPLHTLRSRLSIILQDPILFSGSIRFNLDPECKCTDDRLWEALEIA
  QLKNMVKSLPGGLDAVVTEGGENFSVGQRQLFCLARAFVRKSSILIMDEATASIDMATENILQKVVMTAFADRTV
  VTIAHRVSSIMDAGLVLVFSEGILVECDTVPNLLAHKNGLFSTLVMTNK

• Structural information:
  • Protein Domains: (297..59-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (672..91-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (994..127-)
    type-1 (/note="ABC-transmembrane)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR001475  IPR027417  IPR000388  
  • Prosite: PS50929 PS00211 PS50893
  • STRING: ENSP00000261200
• Other Databases: GeneCards:  ABCC9  Malacards:  ABCC9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016887	ATPase activity	IDA	molecular function
GO:0005261	cation channel activity	ISS	contributes to
GO:0005267	potassium channel activity	IMP	contributes to
GO:0005267	potassium channel activity	IMP	contributes to
GO:0022857	transmembrane transporter activity	ISS	contributes to
GO:0015272	ATP-activated inward rectifier potassium channel activity	NAS	contributes to
GO:0019829	ATPase-coupled cation transmembrane transporter activity	ISS	molecular function
GO:0098655	cation transmembrane transport	ISS	biological process
GO:0098662	inorganic cation transmembrane transport	ISS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0061337	cardiac conduction	IMP	biological process
GO:0031004	potassium ion-transporting ATPase complex	ISS	cellular component
GO:0071805	potassium ion transmembrane transport	NAS	biological process
GO:0071805	potassium ion transmembrane transport	IMP	biological process
GO:0033198	response to ATP	ISS	biological process
GO:0033198	response to ATP	IMP	biological process
GO:0033198	response to ATP	ISS	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0055085	transmembrane transport	IBA	biological process
GO:0008281	sulfonylurea receptor activity	IEA	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0051607	defense response to virus	IMP	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005267	potassium channel activity	IEA	molecular function
GO:0030017	sarcomere	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008281	sulfonylurea receptor activity	ISS	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0015459	potassium channel regulator activity	ISS	molecular function
GO:0008282	inward rectifying potassium channel	IDA	cellular component
GO:0008282	inward rectifying potassium channel	ISS	cellular component
GO:1990573	potassium ion import across plasma membrane	ISS	biological process
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Atrial fibrillation	KEGG:H00731
Dilated cardiomyopathy	KEGG:H00294
Atrial fibrillation	KEGG:H00731
Cardiomyopathy	PMID:15034580
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R