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Sequence in raw or FASTA format:

Database:

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


RefSeq Accession Definition Services Price Order
NM_018325 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA. ORF Sequence $419.34
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_018325.3, 365906242
Length 3244 bp
Structure linear
Update Date 17-APR-2013
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
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(81)-dbSNP:
complement(81)-t, cdbSNP:10757668
complement(86)-t, gdbSNP:77791104
complement(89)-t, adbSNP:77042371
complement(112)-dbSNP:
complement(112)-g, adbSNP:149095486
complement(113)-t, cdbSNP:138028443
complement(131)-t, cdbSNP:150335394
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(377)-t, cdbSNP:145418675
complement(395)-t, cdbSNP:147752518
complement(404)-g, adbSNP:112179438
complement(427)-t, cdbSNP:145645318
complement(491)-g, adbSNP:111392681
complement(569)-dbSNP:
complement(569)-g, adbSNP:188263738
complement(601)-g, adbSNP:200598638
complement(635)-dbSNP:
complement(635)-t, cdbSNP:34608611
complement(726..728)-dbSNP:
complement(726..728)-, attdbSNP:113299382
complement(727)-t, cdbSNP:17769294
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
complement(806)-c, adbSNP:74619849
complement(977)-dbSNP:
complement(977)-g, adbSNP:10122902
complement(981)-t, cdbSNP:201261393
complement(1003)-t, cdbSNP:35726666
complement(1045)-t, cdbSNP:139502204
complement(1093)-t, cdbSNP:201961571
complement(1101)-t, cdbSNP:146043466
complement(1108)-g, cdbSNP:141784061
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(1466)-t, cdbSNP:1088056
complement(1482)-g, adbSNP:149274966
complement(1511)-g, adbSNP:141063383
complement(1553)-t, cdbSNP:200237437
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(1801)-g, adbSNP:73440933
complement(1836)-t, cdbSNP:181860755
complement(1862..1863)-, adbSNP:200583482
complement(1985)-t, cdbSNP:111422595
complement(2230..2231)-, 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
complement(2474)-c, adbSNP:3739526
complement(2611)-c, adbSNP:41272887
complement(2617)-t, cdbSNP:184151041
complement(2767)-g, adbSNP:191690136
complement(2897)-t, cdbSNP:13691
complement(2903)-c, adbSNP:144871912
complement(2959)-t, c, adbSNP:9103
complement(3022)-t, adbSNP:141012074
complement(3173)-t, cdbSNP:150702046
Gene SymbolC9orf72
Gene SynonymALSFTD; FTDALS
Chromosome9
Locus Map9p21.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001256054 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 3, mRNA. Full Length $1168.65
ORF Sequence $419.34
NM_018325 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA. Full Length $1135.40
ORF Sequence $419.34
NM_145005 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 1, mRNA. Full Length $551.29
ORF Sequence $194.01
Title The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS .
Author Mori,K., Weng,S.M., Arzberger,T., May,S., Rentzsch,K., Kremmer,E., Schmid,B., Kretzschmar,H.A., Cruts,M., Van Broeckhoven,C., Haass,C. and Edbauer,D.
Journal Science 339 (6125), 1335-1338 (2013)
Title C9orf72 repeat expansions are a rare genetic cause of parkinsonism .
Author Lesage,S., Le Ber,I., Condroyer,C., Broussolle,E., Gabelle,A., Thobois,S., Pasquier,F., Mondon,K., Dion,P.A., Rochefort,D., Rouleau,G.A., Durr,A. and Brice,A.
Journal Brain 136 (PT 2), 385-391 (2013)
Title Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis .
Author Irwin,D.J., McMillan,C.T., Brettschneider,J., Libon,D.J., Powers,J., Rascovsky,K., Toledo,J.B., Boller,A., Bekisz,J., Chandrasekaran,K., Wood,E.M., Shaw,L.M., Woo,J.H., Cook,P.A., Wolk,D.A., Arnold,S.E., Van Deerlin,V.M., McCluskey,L.F., Elman,L., Lee,V.M., Trojanowski,J.Q. and Grossman,M.
Journal J. Neurol. Neurosurg. Psychiatr. 84 (2), 163-169 (2013)
Title C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration .
Author Gomez-Tortosa,E., Gallego,J., Guerrero-Lopez,R., Marcos,A., Gil-Neciga,E., Sainz,M.J., Diaz,A., Franco-Macias,E., Trujillo-Tiebas,M.J., Ayuso,C. and Perez-Perez,J.
Journal Neurology 80 (4), 366-370 (2013)
Title Extensive genetics of ALS: a population-based study in Italy .
Author Chio,A., Calvo,A., Mazzini,L., Cantello,R., Mora,G., Moglia,C., Corrado,L., D'Alfonso,S., Majounie,E., Renton,A., Pisano,F., Ossola,I., Brunetti,M., Traynor,B.J. and Restagno,G.
Journal Neurology 79 (19), 1983-1989 (2012)
Title Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis .
Author van Es,M.A., Veldink,J.H., Saris,C.G., Blauw,H.M., van Vught,P.W., Birve,A., Lemmens,R., Schelhaas,H.J., Groen,E.J., Huisman,M.H., van der Kooi,A.J., de Visser,M., Dahlberg,C., Estrada,K., Rivadeneira,F., Hofman,A., Zwarts,M.J., van Doormaal,P.T., Rujescu,D., Strengman,E., Giegling,I., Muglia,P., Tomik,B., Slowik,A., Uitterlinden,A.G., Hendrich,C., Waibel,S., Meyer,T., Ludolph,A.C., Glass,J.D., Purcell,S., Cichon,S., Nothen,M.M., Wichmann,H.E., Schreiber,S., Vermeulen,S.H., Kiemeney,L.A., Wokke,J.H., Cronin,S., McLaughlin,R.L., Hardiman,O., Fumoto,K., Pasterkamp,R.J., Meininger,V., Melki,J., Leigh,P.N., Shaw,C.E., Landers,J.E., Al-Chalabi,A., Brown,R.H. Jr., Robberecht,W., Andersen,P.M., Ophoff,R.A. and van den Berg,L.H.
Journal Nat. Genet. 41 (10), 1083-1087 (2009)
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,B.N., Hu,X., Sreedharan,J., Siddique,T., Schelhaas,H.J., Kusters,B., Troost,D., Baas,F., de Jong,V. and Shaw,C.E.
Journal Brain 129 (PT 4), 868-876 (2006)
Title DNA sequence and analysis of human chromosome 9 .
Author Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E., Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E., Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I., Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O., Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D., Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C., Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E., Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M., Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J., Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P., Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V., Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J., Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A., Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J., Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S., Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C., Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M., Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S., Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I., Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S., Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R., Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D., Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A., Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L., Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L., Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E., Hubbard,T., Jackson,M.J., Bentley,D.R., 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,B.A., Siddique,T., Sapp,P.C., Sailor,W., Huang,M.C., Hossain,A., Daube,J.R., Nance,M., Fan,C., Kaplan,J., Hung,W.Y., McKenna-Yasek,D., Haines,J.L., Pericak-Vance,M.A., Horvitz,H.R. and Brown,R.H. Jr.
Journal JAMA 284 (13), 1664-1669 (2000)

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