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Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_018325 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_018325.3, 365906242
Length 3244 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA.
Product protein C9orf72 isoform a
Comment

Summary: Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011].


Transcript Variant: This variant (2) differs in the 5' UTR and 3' coding region and UTR compared to variant 1. The resulting protein (isoform a) is longer compared to isoform 1. Variants 2 and 3 encode the same protein.

RefSeq NP_060795.1
CDS 108..1553
Misc Feature(1)84..86
Misc Feature(2)285..1082
Misc Feature(3)285..1082
Exon (1)1..63
Gene:C9orf72
Gene Synonym:ALSFTD; FTDALS
Exon (2)64..551
Gene:C9orf72
Gene Synonym:ALSFTD; FTDALS
Exon (3)552..611
Gene:C9orf72
Gene Synonym:ALSFTD; FTDALS
Exon (4)612..707
Gene:C9orf72
Gene Synonym:ALSFTD; FTDALS
Exon (5)708..772
Gene:C9orf72
Gene Synonym:ALSFTD; FTDALS
Exon (6)773..845
Gene:C9orf72
Gene Synonym:ALSFTD; FTDALS
Exon (7)846..962
Gene:C9orf72
Gene Synonym:ALSFTD; FTDALS
Exon (8)963..1198
Gene:C9orf72
Gene Synonym:ALSFTD; FTDALS
Exon (9)1199..1256
Gene:C9orf72
Gene Synonym:ALSFTD; FTDALS
Exon (10)1257..1366
Gene:C9orf72
Gene Synonym:ALSFTD; FTDALS
Exon (11)1367..3244
Gene:C9orf72
Gene Synonym:ALSFTD; FTDALS
Translation MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEIT FLANHTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTE LSFYLPLHRVCVDRLTHIIRKGRIWMHKERQENVQKIILEGTERMEDQGQSIIPMLTGEV IPVMELLSSMKSHSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQTCGCSVVVGSS AEKVNKIVRTLCLFLTPAERKCSRLCEAESSFKYESGLFVQGLLKDSTGSFVLPFRQVMY APYPTTHIDVDVNTVKQMPPCHEHIYNQRRYMRSELTAFWRATSEEDMAQDTIIYTDESF TPDLNIFQDVLHRDTLVKAFLDQVFQLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDT QKGKKPFKSLRNLKIDLDLTAEGDLNIIMALAEKIKPGLHSFIFGRPFYTSVQERDVLMT F
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Position Chain Variation Link
complement(71)-dbSNP:
complement(71)-g, adbSNP:371125601
complement(81)-t, cdbSNP:10757668
complement(86)-t, gdbSNP:77791104
complement(89)-t, adbSNP:77042371
complement(112)-g, adbSNP:149095486
complement(113)-t, cdbSNP:138028443
complement(128)-t, cdbSNP:370462123
complement(130)-g, adbSNP:377404268
complement(131)-t, cdbSNP:150335394
complement(178)-g, adbSNP:373581954
complement(193)-g, adbSNP:140145837
complement(200)-g, adbSNP:151145224
complement(246)-g, cdbSNP:181815263
complement(253)-g, cdbSNP:201250307
complement(261)-c, adbSNP:144163719
complement(267)-g, adbSNP:199871012
complement(303)-t, adbSNP:373709108
complement(377)-t, cdbSNP:145418675
complement(395)-t, cdbSNP:147752518
complement(404)-g, adbSNP:112179438
complement(416)-g, cdbSNP:369687342
complement(427)-t, cdbSNP:145645318
complement(447)-t, cdbSNP:373008422
complement(480)-g, cdbSNP:372541138
complement(491)-g, adbSNP:111392681
complement(494)-t, cdbSNP:376972290
complement(569)-dbSNP:
complement(569)-g, adbSNP:188263738
complement(584)-t, cdbSNP:374411112
complement(600)-t, cdbSNP:370135790
complement(601)-g, adbSNP:200598638
complement(603)-t, cdbSNP:368117087
complement(630)-dbSNP:
complement(630)-t, cdbSNP:376288435
complement(635)-t, cdbSNP:34608611
complement(651)-g, adbSNP:373783122
complement(726..728)-dbSNP:
complement(726..728)-, attdbSNP:113299382
complement(727)-t, cdbSNP:17769294
complement(727)-t, cdbSNP:386544500
complement(750)-g, adbSNP:113939233
complement(755)-g, adbSNP:149801256
complement(772)-t, cdbSNP:111621456
complement(777)-dbSNP:
complement(777)-t, cdbSNP:139743072
complement(789)-g, adbSNP:147034723
806+a, cdbSNP:74619849
complement(977)-dbSNP:
complement(977)-g, adbSNP:10122902
complement(981)-t, cdbSNP:201261393
complement(994)-t, cdbSNP:370472336
1003+c, tdbSNP:35726666
complement(1045)-t, cdbSNP:139502204
complement(1087)-t, cdbSNP:374369837
complement(1089)-g, adbSNP:370756199
complement(1093)-t, cdbSNP:201961571
complement(1101)-t, cdbSNP:146043466
complement(1108)-g, cdbSNP:141784061
complement(1122)-g, adbSNP:373419325
complement(1125)-g, adbSNP:371377376
complement(1211)-dbSNP:
complement(1211)-t, cdbSNP:199900665
complement(1223)-g, cdbSNP:148034295
complement(1241)-t, cdbSNP:192859049
complement(1284)-dbSNP:
complement(1284)-t, g, adbSNP:2643806
complement(1291)-t, cdbSNP:185358772
complement(1311)-g, adbSNP:811641
complement(1340)-t, gdbSNP:34602100
complement(1361)-g, adbSNP:201734930
complement(1370)-dbSNP:
complement(1370)-t, cdbSNP:812272
complement(1382)-g, adbSNP:2453563
complement(1383)-g, adbSNP:190477376
complement(1392)-g, adbSNP:200703028
complement(1404)-g, cdbSNP:368371587
complement(1407)-t, cdbSNP:376385318
complement(1457)-g, adbSNP:375040006
complement(1466)-t, cdbSNP:1088056
complement(1482)-g, adbSNP:149274966
complement(1500)-g, cdbSNP:369166616
complement(1511)-g, adbSNP:141063383
complement(1553)-t, cdbSNP:200237437
complement(1593)-g, adbSNP:371151244
complement(1594)-t, cdbSNP:377706283
complement(1596)-t, adbSNP:374947245
complement(1647)-t, cdbSNP:12237092
complement(1661)-c, adbSNP:2783013
complement(1700)-t, cdbSNP:2783012
complement(1721)-t, cdbSNP:185200099
complement(1727)-g, adbSNP:146530591
complement(1768)-c, adbSNP:376488477
complement(1801)-g, adbSNP:73440933
complement(1836)-t, cdbSNP:181860755
complement(1862..1863)-, adbSNP:200583482
complement(1985)-t, cdbSNP:111422595
complement(2229..2230)-, cdbSNP:34400956
complement(2232)-t, cdbSNP:189808047
complement(2340)-c, adbSNP:148832592
complement(2365)-g, adbSNP:114297800
complement(2390)-t, cdbSNP:80172172
complement(2413)-g, adbSNP:149684050
complement(2428)-g, adbSNP:15540
2474+a, cdbSNP:3739526
complement(2611)-c, adbSNP:41272887
complement(2617)-t, cdbSNP:184151041
complement(2689)-c, adbSNP:375528640
complement(2767)-g, adbSNP:191690136
2897+c, tdbSNP:13691
complement(2903)-c, adbSNP:144871912
2959+a, c, tdbSNP:9103
complement(3005)-t, adbSNP:372145469
3022+a, tdbSNP:141012074
complement(3173)-t, cdbSNP:150702046
Gene SymbolC9orf72
Gene SynonymALSFTD; FTDALS
Chromosome9
Locus Map9p21.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_145005 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 1, mRNA. On-demand $399.00 14
NM_001256054 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 3, mRNA. In-stock $509.00 $460.00 12
NM_018325 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA. In-stock $509.00 $460.00 12
XM_006716739 PREDICTED: Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant X1, mRNA. On-demand $699.00 18
Title C9orf72 nucleotide repeat structures initiate molecular cascades of disease .
Author Haeusler AR, Donnelly CJ, Periz G, Simko EA, Shaw PG, Kim MS, Maragakis NJ, Troncoso JC, Pandey A, Sattler R, Rothstein JD and Wang J.
Journal Nature 507 (7491), 195-200 (2014)
Title C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking .
Author Farg MA, Sundaramoorthy V, Sultana JM, Yang S, Atkinson RA, Levina V, Halloran MA, Gleeson PA, Blair IP, Soo KY, King AE and Atkin JD.
Journal Hum. Mol. Genet. (2014) In press
Title C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies .
Author Hensman Moss DJ, Poulter M, Beck J, Hehir J, Polke JM, Campbell T, Adamson G, Mudanohwo E, McColgan P, Haworth A, Wild EJ, Sweeney MG, Houlden H, Mead S and Tabrizi SJ.
Journal Neurology 82 (4), 292-299 (2014)
Title RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia .
Author Zu T, Liu Y, Banez-Coronel M, Reid T, Pletnikova O, Lewis J, Miller TM, Harms MB, Falchook AE, Subramony SH, Ostrow LW, Rothstein JD, Troncoso JC and Ranum LP.
Journal Proc. Natl. Acad. Sci. U.S.A. 110 (51), E4968-E4977 (2013)
Title Basal ganglia involvement in amyotrophic lateral sclerosis .
Author Bede P, Elamin M, Byrne S, McLaughlin RL, Kenna K, Vajda A, Pender N, Bradley DG and Hardiman O.
Journal Neurology 81 (24), 2107-2115 (2013)
Title Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3 .
Author Vance C, Al-Chalabi A, Ruddy D, Smith BN, Hu X, Sreedharan J, Siddique T, Schelhaas HJ, Kusters B, Troost D, Baas F, de Jong V and Shaw CE.
Journal Brain 129 (PT 4), 868-876 (2006)
Title DNA sequence and analysis of human chromosome 9 .
Author Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
Journal Nature 429 (6990), 369-374 (2004)
Title No evidence of linkage to chromosome 9q21-22 in a Swedish family with frontotemporal dementia and amyotrophic lateral sclerosis .
Author Ostojic J, Axelman K, Lannfelt L and Froelich-Fabre S.
Journal Neurosci. Lett. 340 (3), 245-247 (2003)
Title Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22 .
Author Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Hossain A, Daube JR, Nance M, Fan C, Kaplan J, Hung WY, McKenna-Yasek D, Haines JL, Pericak-Vance MA, Horvitz HR and Brown RH Jr.
Journal JAMA 284 (13), 1664-1669 (2000)
Title Amyotrophic Lateral Sclerosis Overview .
Author Kinsley,L. and Siddique,T.
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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