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  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu23823 Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. pcDNA3.1+-DYK On-demand $2699.00 30
OHu23823C Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. Customized vector On-demand $2699.00 30

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_020297.3, 574957036
Length 4650 bp
Structure linear
Update Date 11-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.
Product ATP-binding cassette sub-family C member 9 isoform SUR2B
Comment

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].


Transcript Variant: This variant (SUR2B) uses an alternate 3' coding exon (exon 38B), compared to variant SUR2A, which uses exon 38A. The encoded isoform (SUR2B) has an alternate 38-amino acid C-terminus, but is the same length as isoform SUR2A. There are no full-length transcripts representing this variant in human; it is supported by partial transcript alignments, by full-length transcript alignments from the homologous mouse and rat genes, and by RT-PCR analysis in PMID:11054556.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_064693.2
CDS 21..4670
Misc Feature(1)12..14
Misc Feature(2)111..173
Misc Feature(3)111..173
Misc Feature(4)237..299
Misc Feature(5)324..386
Misc Feature(6)417..479
Misc Feature(7)522..584
Misc Feature(8)681..4628
Misc Feature(9)924..986
Misc Feature(10)1071..1133
Misc Feature(11)1113..1775
Misc Feature(12)1290..1352
Misc Feature(13)1386..1448
Misc Feature(14)1614..1676
Misc Feature(15)1734..1796
Misc Feature(16)2034..2687
Misc Feature(17)2133..2156
Misc Feature(18)order(2142..2147,2151..2159,2289..2291,2526..2531,
Misc Feature(19)2280..2291
Misc Feature(20)2454..2483
Misc Feature(21)2514..2531
Misc Feature(22)2538..2549
Misc Feature(23)2619..2639
Misc Feature(24)2991..3053
Misc Feature(25)3000..3818
Misc Feature(26)3123..3185
Misc Feature(27)3402..3464
Misc Feature(28)3756..3818
Misc Feature(29)3948..4667
Misc Feature(30)4056..4079
Misc Feature(31)order(4065..4070,4074..4082,4200..4202,4437..4442,
Misc Feature(32)4191..4202
Misc Feature(33)4365..4394
Misc Feature(34)4425..4442
Misc Feature(35)4449..4460
Misc Feature(36)4521..4541
Exon (1)1..162
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (2)163..304
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (3)305..426
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (4)427..593
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (5)594..836
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (6)837..1031
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (7)1032..1184
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (8)1185..1340
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (9)1341..1475
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (10)1476..1638
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (11)1639..1679
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (12)1680..1822
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (13)1823..1931
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (14)1932..2039
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (15)2040..2112
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (16)2113..2218
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (17)2219..2257
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (18)2258..2359
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (19)2360..2444
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (20)2445..2525
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (21)2526..2663
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (22)2664..2789
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (23)2790..2886
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (24)2887..3116
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (25)3117..3265
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (26)3266..3335
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (27)3336..3493
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (28)3494..3586
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (29)3587..3689
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (30)3690..3791
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (31)3792..3912
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (32)3913..4043
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (33)4044..4122
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (34)4123..4231
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (35)4232..4335
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (36)4336..4469
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (37)4470..4532
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Exon (38)4533..8325
Gene:ABCC9
Gene Synonym:ABC37; ATFB12; CANTU; CMD1O; SUR2
Translation 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 VTIAHRVHTILTADLVIVMKRGNILEYDTPESLLAQENGVFASFVRADM
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Position Chain Variation Link
complement(10)-dbSNP:
complement(10)-g, adbSNP:72559432
complement(12)-g, adbSNP:370067847
complement(68)-g, adbSNP:199631710
complement(78)-g, adbSNP:375713309
complement(95)-g, adbSNP:201972673
complement(132)-g, adbSNP:375739359
198+dbSNP:
198+c, tdbSNP:387907230
complement(235)-t, cdbSNP:369409311
complement(286)-t, cdbSNP:199508243
complement(304)-g, adbSNP:376432144
complement(306)-dbSNP:
complement(306)-g, adbSNP:373792254
complement(307)-t, cdbSNP:202103893
complement(325)-g, adbSNP:374659816
complement(345)-t, cdbSNP:374849789
complement(350)-t, cdbSNP:267603425
complement(357)-t, cdbSNP:200723629
complement(374)-t, cdbSNP:189582135
complement(392)-g, adbSNP:377384557
complement(401)-t, cdbSNP:377696872
complement(431)-dbSNP:
complement(431)-t, cdbSNP:368753369
440+c, tdbSNP:397517189
complement(457)-t, adbSNP:149325742
complement(629)-dbSNP:
complement(629)-t, cdbSNP:139669232
complement(632)-c, adbSNP:375789756
complement(640)-t, cdbSNP:182537028
complement(689)-t, gdbSNP:17846788
complement(689)-t, gdbSNP:386544766
complement(703)-t, gdbSNP:200336305
complement(784)-g, adbSNP:150627958
complement(809)-g, adbSNP:58386780
complement(818)-g, adbSNP:138356189
complement(829)-t, gdbSNP:145774770
complement(846)-dbSNP:
complement(846)-t, cdbSNP:201783967
complement(872)-t, adbSNP:113562970
complement(873)-t, cdbSNP:370662364
complement(905)-t, cdbSNP:368276490
complement(928)-g, adbSNP:200207117
complement(938)-t, cdbSNP:142115849
complement(944)-g, adbSNP:139127928
complement(979)-t, cdbSNP:200272254
complement(1043)-dbSNP:
complement(1043)-g, cdbSNP:369597360
complement(1055)-t, cdbSNP:72559752
complement(1070)-g, adbSNP:143373045
complement(1071)-c, adbSNP:375758521
complement(1076)-g, adbSNP:149408382
complement(1083)-c, adbSNP:145455570
complement(1147)-g, adbSNP:372244832
complement(1150)-g, adbSNP:368908490
1162+a, tdbSNP:397517181
complement(1171)-t, cdbSNP:374574602
complement(1195)-dbSNP:
complement(1195)-t, cdbSNP:370918215
complement(1220)-t, cdbSNP:150096625
complement(1232)-g, adbSNP:376726505
complement(1233)-t, cdbSNP:142038412
complement(1273)-g, adbSNP:147580701
complement(1316)-g, adbSNP:10770865
complement(1349)-dbSNP:
complement(1349)-t, cdbSNP:151197166
complement(1352)-g, adbSNP:369830406
1378+c, gdbSNP:397517183
complement(1394)-g, adbSNP:200819464
complement(1401)-g, cdbSNP:374535641
complement(1418)-g, adbSNP:368698007
complement(1421)-t, cdbSNP:142219855
1453+c, tdbSNP:387907211
complement(1554)-dbSNP:
complement(1554)-g, adbSNP:368128251
complement(1577)-t, cdbSNP:143346402
1623+c, tdbSNP:397517184
complement(1658)-dbSNP:
complement(1658)-t, adbSNP:370463895
complement(1697)-dbSNP:
complement(1697)-t, cdbSNP:76458291
complement(1837)-dbSNP:
complement(1837)-t, gdbSNP:149229372
complement(1868)-g, adbSNP:61001398
complement(1879)-t, cdbSNP:139539832
complement(1894)-g, adbSNP:75460545
complement(1899)-g, cdbSNP:367770980
complement(1907)-c, adbSNP:150036969
complement(1929)-t, cdbSNP:113542001
complement(1947)-dbSNP:
complement(1947)-t, gdbSNP:138890128
complement(1962)-t, cdbSNP:368279608
complement(1999)-t, cdbSNP:150255709
complement(2001)-g, adbSNP:199499109
2002+a, gdbSNP:397517185
complement(2007)-g, adbSNP:200349671
complement(2008)-t, cdbSNP:141999048
complement(2013)-t, cdbSNP:200891785
2020+a, cdbSNP:397517186
complement(2070)-dbSNP:
complement(2070)-t, cdbSNP:148174226
complement(2086)-g, adbSNP:200288646
complement(2101)-t, cdbSNP:267603424
complement(2106)-g, adbSNP:183603557
complement(2121..2122)-dbSNP:
complement(2121..2122)-, gdbSNP:371525457
2169+a, gdbSNP:397517187
complement(2174)-g, adbSNP:74067815
complement(2175)-g, adbSNP:141925577
complement(2177)-g, adbSNP:201848437
complement(2211)-g, adbSNP:367621959
complement(2217)-t, cdbSNP:369604693
complement(2220)-dbSNP:
complement(2220)-t, cdbSNP:61688134
complement(2232)-t, cdbSNP:202054255
complement(2235)-g, cdbSNP:201223488
complement(2242)-g, adbSNP:146944210
complement(2271)-dbSNP:
complement(2271)-t, adbSNP:375322301
complement(2282)-g, adbSNP:145561881
complement(2332)-g, adbSNP:180739851
complement(2463)-dbSNP:
complement(2463)-t, cdbSNP:267603423
complement(2520)-g, adbSNP:367776754
complement(2543)-dbSNP:
complement(2543)-t, cdbSNP:386471932
2574+c, tdbSNP:193922683
complement(2608)-t, cdbSNP:111943197
complement(2619)-t, cdbSNP:376754153
complement(2633)-g, adbSNP:373909378
complement(2650)-g, adbSNP:140872303
complement(2651)-t, cdbSNP:139408145
complement(2686)-dbSNP:
complement(2686)-t, cdbSNP:144158922
complement(2721)-t, gdbSNP:372063844
complement(2757)-g, adbSNP:61926077
complement(2804)-dbSNP:
complement(2804)-g, cdbSNP:139472403
complement(2833)-t, cdbSNP:201838439
complement(2835)-g, adbSNP:373890183
complement(2840)-t, gdbSNP:370592605
complement(2846)-g, adbSNP:141025897
complement(2877)-t, cdbSNP:143685061
complement(2882)-t, cdbSNP:2291550
complement(2882)-t, cdbSNP:386563925
complement(2894)-dbSNP:
complement(2894)-t, cdbSNP:113544922
complement(2947)-t, adbSNP:149319186
complement(2952)-t, gdbSNP:376874273
complement(2970)-g, adbSNP:78979794
complement(2971)-t, cdbSNP:148752791
complement(3003)-t, cdbSNP:374500043
complement(3027)-g, adbSNP:138700703
complement(3050)-g, adbSNP:76102634
complement(3061)-c, adbSNP:74839837
3078+c, tdbSNP:387907229
complement(3082)-t, adbSNP:201076495
complement(3090)-t, cdbSNP:376701259
complement(3093)-t, cdbSNP:372020861
complement(3096)-t, cdbSNP:369389402
3148+dbSNP:
3148+a, gdbSNP:387907210
complement(3212)-t, adbSNP:374811560
complement(3258)-g, adbSNP:190886443
complement(3293)-dbSNP:
complement(3293)-g, cdbSNP:144325590
complement(3295)-t, adbSNP:182158174
complement(3308)-g, adbSNP:377372612
complement(3319)-g, adbSNP:201358406
complement(3341)-dbSNP:
complement(3341)-g, adbSNP:35404804
complement(3359)-c, adbSNP:138280089
3366+c, tdbSNP:387907228
3367+a, gdbSNP:387907227
complement(3377)-g, adbSNP:2287626
complement(3377)-g, adbSNP:386563697
complement(3429)-t, cdbSNP:147895473
complement(3455)-t, gdbSNP:373381644
3480+c, tdbSNP:387907208
3481+a, gdbSNP:387907209
complement(3488)-g, adbSNP:201572736
complement(3534)-dbSNP:
complement(3534)-g, adbSNP:112192000
complement(3614)-dbSNP:
complement(3614)-t, cdbSNP:199900459
complement(3626)-t, cdbSNP:143316915
complement(3635)-t, cdbSNP:17846779
complement(3635)-t, cdbSNP:386544764
complement(3665)-g, adbSNP:188944145
complement(3670)-t, cdbSNP:12298510
complement(3688)-g, adbSNP:137907278
complement(3689)-t, cdbSNP:146942382
complement(3694)-dbSNP:
complement(3694)-t, cdbSNP:200876028
complement(3749)-t, cdbSNP:140182559
complement(3788)-g, adbSNP:150303433
complement(3930)-dbSNP:
complement(3930)-t, cdbSNP:59492152
complement(3943)-t, cdbSNP:143091422
complement(3953)-t, cdbSNP:371193643
complement(3960)-t, cdbSNP:149077049
complement(3968)-g, adbSNP:368875701
complement(3975)-t, cdbSNP:200499616
complement(3979)-t, cdbSNP:59663759
complement(4013)-g, adbSNP:377704379
complement(4014)-g, cdbSNP:200350065
complement(4082)-dbSNP:
complement(4082)-t, cdbSNP:145005748
complement(4121)-g, adbSNP:376991991
complement(4166)-dbSNP:
complement(4166)-t, cdbSNP:374672511
complement(4225)-g, cdbSNP:369587958
complement(4251)-dbSNP:
complement(4251)-t, cdbSNP:17846782
complement(4251)-g, adbSNP:386544765
complement(4275)-g, adbSNP:369608273
complement(4309)-g, adbSNP:144125604
complement(4340)-dbSNP:
complement(4340)-t, cdbSNP:377289768
complement(4342)-g, adbSNP:140448278
complement(4364)-g, adbSNP:146782703
4372+c, tdbSNP:397517190
complement(4412)-g, cdbSNP:371653292
complement(4457)-g, adbSNP:368079660
complement(4482)-dbSNP:
complement(4482)-t, gdbSNP:76584880
complement(4556)-dbSNP:
complement(4556)-t, cdbSNP:186493048
4557+a, gdbSNP:121909304
complement(4600)-t, gdbSNP:78275359
complement(4615)-g, cdbSNP:373396917
complement(4629)-t, cdbSNP:149722127
complement(4644)-g, cdbSNP:147521845
complement(4658)-g, adbSNP:143310355
complement(4677)-t, cdbSNP:180770035
complement(4689)-t, cdbSNP:386447840
complement(4689)-g, adbSNP:114906131
complement(4692)-t, cdbSNP:376736105
complement(4718)-t, gdbSNP:370423028
complement(4773)-t, gdbSNP:188290333
complement(4880)-g, adbSNP:146747782
complement(4987)-g, adbSNP:143461880
complement(5019..5020)-, gdbSNP:34599737
complement(5080)-g, adbSNP:139937898
complement(5146)-g, adbSNP:73253073
complement(5189)-g, cdbSNP:1283784
complement(5247)-c, adbSNP:377734952
complement(5306)-g, adbSNP:111647146
complement(5341)-c, adbSNP:141707120
5446+c, tdbSNP:148416760
complement(5521)-g, cdbSNP:184578911
complement(5528)-g, adbSNP:377351174
complement(5552)-c, adbSNP:374294612
complement(5608)-g, cdbSNP:144446899
complement(5711)-t, adbSNP:829063
complement(5741)-t, adbSNP:149235644
complement(5887)-g, adbSNP:192888616
complement(5888)-t, cdbSNP:113307208
5930+c, tdbSNP:139370710
complement(5935..5936)-, adbSNP:201459464
complement(5987)-t, adbSNP:111349057
6161+c, tdbSNP:144076013
complement(6171)-c, adbSNP:369206463
complement(6199)-, gdbSNP:201058622
complement(6199)-g, adbSNP:374848925
complement(6442)-, gdbSNP:368512533
complement(6466)-t, adbSNP:79202780
complement(6520)-g, adbSNP:138502719
6521+a, gdbSNP:853287
complement(6704)-c, adbSNP:12817966
complement(6705)-c, adbSNP:12817799
complement(6720)-g, adbSNP:12817793
complement(6726)-t, adbSNP:12817648
complement(6742)-t, cdbSNP:12819187
complement(7083)-g, adbSNP:185196180
complement(7102)-t, gdbSNP:113290058
7110+a, cdbSNP:1283785
complement(7210)-g, adbSNP:369176373
complement(7260..7261)-gg, aadbSNP:386761109
complement(7397)-g, adbSNP:369061303
complement(7471)-t, cdbSNP:16924306
complement(7541)-g, adbSNP:117295320
complement(7581)-g, adbSNP:192230600
complement(7595)-t, gdbSNP:76760708
complement(7681)-c, adbSNP:375761017
complement(7719)-t, cdbSNP:187601904
complement(7933)-t, cdbSNP:113907773
complement(7950)-t, cdbSNP:11835091
complement(7984)-t, gdbSNP:116542036
complement(8053)-g, adbSNP:11832676
complement(8083)-g, adbSNP:143249920
complement(8096)-g, adbSNP:183248049
complement(8153..8158)-, ataggcdbSNP:200165311
complement(8211)-g, adbSNP:78132170
complement(8215)-g, adbSNP:113837759
Gene SymbolABCC9
Gene SynonymABC37; ATFB12; CANTU; CMD1O; SUR2
Chromosome12
Locus Map12p12.1
Title Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9 .
Author Czeschik JC, Voigt C, Goecke TO, Ludecke HJ, Wagner N, Kuechler A and Wieczorek D.
Journal Am. J. Med. Genet. A 161A (2), 295-300 (2013)
Title Dominant missense mutations in ABCC9 cause Cantu syndrome .
Author Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G and Cuppen E.
Journal Nat. Genet. 44 (7), 793-796 (2012)
Title Cantu syndrome is caused by mutations in ABCC9 .
Author van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB and Hoischen A.
Journal Am. J. Hum. Genet. 90 (6), 1094-1101 (2012)
Title Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population .
Author Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA and Butte NF.
Journal PLoS ONE 7 (12), E51954 (2012)
Title ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating .
Author Bienengraeber M, Olson TM, Selivanov VA, Kathmann EC, O'Cochlain F, Gao F, Karger AB, Ballew JD, Hodgson DM, Zingman LV, Pang YP, Alekseev AE and Terzic A.
Journal Nat. Genet. 36 (4), 382-387 (2004)
Title Molecular characterization of human SUR2-containing K(ATP) channels .
Author Davis-Taber R, Choi W, Feng J, Hoogenboom L, McNally T, Kroeger P, Shieh CC, Simmer R, Brioni JD, Sullivan JP, Gopalakrishnan M and Scott VE.
Journal Gene 256 (1-2), 261-270 (2000)
Title Intracellular nucleotide-mediated gating of SUR/Kir6.0 complex potassium channels expressed in a mammalian cell line and its modification by pinacidil .
Author Satoh E, Yamada M, Kondo C, Repunte VP, Horio Y, Iijima T and Kurachi Y.
Journal J. Physiol. (Lond.) 511 (PT 3), 663-674 (1998)
Title SUR2 subtype (A and B)-dependent differential activation of the cloned ATP-sensitive K+ channels by pinacidil and nicorandil .
Author Shindo T, Yamada M, Isomoto S, Horio Y and Kurachi Y.
Journal Br. J. Pharmacol. 124 (5), 985-991 (1998)
Title Toward understanding the assembly and structure of KATP channels .
Author Aguilar-Bryan L, Clement JP 4th, Gonzalez G, Kunjilwar K, Babenko A and Bryan J.
Journal Physiol. Rev. 78 (1), 227-245 (1998)
Title Dilated Cardiomyopathy Overview .
Author Hershberger,R.E. and Morales,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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