Details for: ABCC9
Associated with
Other Information
Genular Protein ID: 2084951737
Symbol: ABCC9_HUMAN
Name: ATP-binding cassette sub-family C member 9
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9457174
Title: Toward understanding the assembly and structure of KATP channels.
PubMed ID: 9457174
PubMed ID: 16541075
Title: The finished DNA sequence of human chromosome 12.
PubMed ID: 16541075
DOI: 10.1038/nature04569
PubMed ID: 9831708
Title: Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells.
PubMed ID: 9831708
PubMed ID: 22105623
Title: A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila.
PubMed ID: 22105623
DOI: 10.1038/mp.2011.142
PubMed ID: 15034580
Title: ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
PubMed ID: 15034580
DOI: 10.1038/ng1329
PubMed ID: 17245405
Title: KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.
PubMed ID: 17245405
PubMed ID: 22608503
Title: Cantu syndrome is caused by mutations in ABCC9.
PubMed ID: 22608503
PubMed ID: 22610116
Title: Dominant missense mutations in ABCC9 cause Cantu syndrome.
PubMed ID: 22610116
DOI: 10.1038/ng.2324
PubMed ID: 26621776
Title: Differential mechanisms of Cantu syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.
PubMed ID: 26621776
PubMed ID: 31303265
Title: De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
PubMed ID: 31303265
PubMed ID: 31575858
Title: ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.
PubMed ID: 31575858
Sequence Information:
- Length: 1549
- Mass: 174223
- Checksum: 55508C9343AB1218
- Sequence:
MSLSFCGNNI SSYNINDGVL QNSCFVDALN LVPHVFLLFI TFPILFIGWG SQSSKVQIHH NTWLHFPGHN LRWILTFALL FVHVCEIAEG IVSDSRRESR HLHLFMPAVM GFVATTTSIV YYHNIETSNF PKLLLALFLY WVMAFITKTI KLVKYCQSGL DISNLRFCIT GMMVILNGLL MAVEINVIRV RRYVFFMNPQ KVKPPEDLQD LGVRFLQPFV NLLSKATYWW MNTLIISAHK KPIDLKAIGK LPIAMRAVTN YVCLKDAYEE QKKKVADHPN RTPSIWLAMY RAFGRPILLS STFRYLADLL GFAGPLCISG IVQRVNETQN GTNNTTGISE TLSSKEFLEN AYVLAVLLFL ALILQRTFLQ ASYYVTIETG INLRGALLAM IYNKILRLST SNLSMGEMTL GQINNLVAIE TNQLMWFLFL CPNLWAMPVQ IIMGVILLYN LLGSSALVGA AVIVLLAPIQ YFIATKLAEA QKSTLDYSTE RLKKTNEILK GIKLLKLYAW EHIFCKSVEE TRMKELSSLK TFALYTSLSI FMNAAIPIAA VLATFVTHAY ASGNNLKPAE AFASLSLFHI LVTPLFLLST VVRFAVKAII SVQKLNEFLL SDEIGDDSWR TGESSLPFES CKKHTGVQPK TINRKQPGRY HLDSYEQSTR RLRPAETEDI AIKVTNGYFS WGSGLATLSN IDIRIPTGQL TMIVGQVGCG KSSLLLAILG EMQTLEGKVH WSNVNESEPS FEATRSRNRY SVAYAAQKPW LLNATVEENI TFGSPFNKQR YKAVTDACSL QPDIDLLPFG DQTEIGERGI NLSGGQRQRI CVARALYQNT NIVFLDDPFS ALDIHLSDHL MQEGILKFLQ DDKRTLVLVT HKLQYLTHAD WIIAMKDGSV LREGTLKDIQ TKDVELYEHW KTLMNRQDQE LEKDMEADQT TLERKTLRRA MYSREAKAQM EDEDEEEEEE EDEDDNMSTV MRLRTKMPWK TCWRYLTSGG FFLLILMIFS KLLKHSVIVA IDYWLATWTS EYSINNTGKA DQTYYVAGFS ILCGAGIFLC LVTSLTVEWM GLTAAKNLHH NLLNKIILGP IRFFDTTPLG LILNRFSADT NIIDQHIPPT LESLTRSTLL CLSAIGMISY ATPVFLVALL PLGVAFYFIQ KYFRVASKDL QELDDSTQLP LLCHFSETAE GLTTIRAFRH ETRFKQRMLE LTDTNNIAYL FLSAANRWLE VRTDYLGACI VLTASIASIS GSSNSGLVGL GLLYALTITN YLNWVVRNLA DLEVQMGAVK KVNSFLTMES ENYEGTMDPS QVPEHWPQEG EIKIHDLCVR YENNLKPVLK HVKAYIKPGQ KVGICGRTGS GKSSLSLAFF RMVDIFDGKI VIDGIDISKL PLHTLRSRLS IILQDPILFS GSIRFNLDPE CKCTDDRLWE ALEIAQLKNM VKSLPGGLDA VVTEGGENFS VGQRQLFCLA RAFVRKSSIL IMDEATASID MATENILQKV VMTAFADRTV VTIAHRVSSI MDAGLVLVFS EGILVECDTV PNLLAHKNGL FSTLVMTNK
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.