• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_144997 Homo sapiens folliculin (FLCN), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

RefSeq Version NM_144997.5, 186928861
Length 3723 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.
Product folliculin isoform 1
Comment

Summary: This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) encodes the longer isoform (1).

RefSeq NP_659434.2
CDS 505..2244
Misc Feature(1)394..396
Misc Feature(2)394..396
Misc Feature(3)688..690
Misc Feature(4)688..690
Misc Feature(5)814..1305
Exon (1)1..277
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (2)278..391
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (3)392..480
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (4)481..753
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (5)754..900
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (6)901..1122
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (7)1123..1283
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (8)1284..1375
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (9)1376..1566
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (10)1567..1680
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (11)1681..1804
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (12)1805..1936
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (13)1937..2042
Gene:FLCN
Gene Synonym:BHD; FLCL
Exon (14)2043..3687
Gene:FLCN
Gene Synonym:BHD; FLCL
Translation MNAIVALCHFCELHGPRTLFCTEVLHAPLPQGDGNEDSPGQGEQAEEEEGGIQMNSRMRA HSPAEGASVESSSPGPKKSDMCEGCRSLAAGHPGYISHDKETSIKYVSHQHPSHPQLFSI VRQACVRSLSCEVCPGREGPIFFGDEQHGFVFSHTFFIKDSLARGFQRWYSIITIMMDRI YLINSWPFLLGKVRGIIDELQGKALKVFEAEQFGCPQRAQRMNTAFTPFLHQRNGNAARS LTSLTSDDNLWACLHTSFAWLLKACGSRLTEKLLEGAPTEDTLVQMEKLADLEEESESWD NSEAEEEEKAPVLPESTEGRELTQGPAESSSLSGCGSWQPRKLPVFKSLRHMRQVLGAPS FRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLRTMLPVGCVRIIPYSSQYEEAYRCNFLGL SPHVQIPPHVLSSEFAVIVEVHAAARSTLHPVGCEDDQSLSKYEFVVTSGSPVAADRVGP TILNKIEAALTNQNLSVDVVDQCLVCLKEEWMNKVKVLFKFTKVDSRPKEDTQKLLSILG ASEEDNVKLLKFWMTGLSKTYKSHLMSTVRSPTASESRN
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
18+dbSNP:
18+c, gdbSNP:1736209
complement(24)-t, cdbSNP:207476321
complement(37)-t, gdbSNP:207476320
complement(74)-g, adbSNP:138847774
complement(187)-g, adbSNP:180900492
complement(203)-t, cdbSNP:41345949
206+c, tdbSNP:1708629
complement(221)-g, cdbSNP:78262456
complement(223)-g, cdbSNP:78918950
complement(225)-c, adbSNP:75014442
complement(248)-t, cdbSNP:370286675
complement(276..277)-, cctcagacccccgcctaccdbSNP:370486376
complement(329)-dbSNP:
complement(329)-t, cdbSNP:117215381
complement(371)-g, adbSNP:116581458
complement(408)-g, adbSNP:114481741
complement(412)-g, adbSNP:115413827
complement(415)-t, cdbSNP:8069957
complement(427)-g, cdbSNP:147598893
complement(440)-t, cdbSNP:145125741
complement(447)-g, adbSNP:140144170
complement(476)-t, cdbSNP:151144873
complement(497)-dbSNP:
complement(497)-t, cdbSNP:369632481
554+c, gdbSNP:398124537
complement(579)-t, cdbSNP:200350612
587..588+, cdbSNP:398124540
complement(590)-g, adbSNP:150051278
601+c, gdbSNP:386833401
complement(603)-t, adbSNP:375348725
complement(617)-c, adbSNP:139418842
complement(643)-g, cdbSNP:369115472
complement(680)-t, cdbSNP:374969279
complement(708)-g, adbSNP:371947198
740+c, gdbSNP:137852930
complement(750)-g, adbSNP:150712346
complement(772)-dbSNP:
complement(772)-c, adbSNP:141140415
complement(783)-t, cdbSNP:138688941
800+, adbSNP:398124534
823..824+cac, gtdbSNP:398124535
850+c, tdbSNP:398124536
complement(925)-dbSNP:
complement(925)-t, cdbSNP:375921200
complement(934)-t, cdbSNP:372918705
complement(948)-g, adbSNP:376825814
complement(954)-g, adbSNP:200672897
complement(955)-t, cdbSNP:147164515
complement(956)-g, adbSNP:373794943
complement(1040)-c, adbSNP:369906553
complement(1056)-t, gdbSNP:143525924
complement(1073..1074)-, cdbSNP:34867548
complement(1084)-g, adbSNP:138070947
complement(1090)-t, cdbSNP:201078144
complement(1096)-t, cdbSNP:200168437
1114..1115+gc, tadbSNP:398124538
complement(1148)-dbSNP:
complement(1148)-t, cdbSNP:370074267
complement(1157)-t, cdbSNP:367843558
complement(1194)-t, gdbSNP:373977390
complement(1207)-t, cdbSNP:200693409
complement(1215)-g, adbSNP:111258744
complement(1219)-g, adbSNP:78683075
complement(1224)-t, cdbSNP:186366202
complement(1230)-t, adbSNP:113938514
complement(1233)-t, cdbSNP:377261933
complement(1238)-t, gdbSNP:371401039
complement(1239)-t, gdbSNP:150175875
complement(1283)-t, cdbSNP:368778627
complement(1295)-dbSNP:
complement(1295)-g, adbSNP:372304384
complement(1296)-t, cdbSNP:140500421
complement(1314)-g, adbSNP:372342796
1333..1334+, tgdbSNP:398124539
complement(1338)-c, adbSNP:146801028
complement(1371)-g, adbSNP:367562964
1394..1397+dbSNP:
1394..1397+, aaagdbSNP:398124541
complement(1435)-g, adbSNP:140246224
complement(1453)-t, cdbSNP:147142086
1458..1459+, agcccctgtgttgccagagagtacagaadbSNP:398124542
complement(1463)-t, cdbSNP:143483053
complement(1481)-g, adbSNP:138031155
complement(1496)-g, adbSNP:202215080
complement(1526)-t, cdbSNP:375352888
complement(1548)-g, adbSNP:200224064
complement(1553)-t, cdbSNP:190786280
1564+c, tdbSNP:398124523
complement(1579)-dbSNP:
complement(1579)-g, adbSNP:184718358
complement(1613)-g, adbSNP:200877872
1621+c, tdbSNP:398124524
complement(1653)-g, adbSNP:150752548
complement(1659)-c, adbSNP:141250189
1683+dbSNP:
1683+, cdbSNP:398124525
complement(1705)-g, adbSNP:143183215
1707..1708+, cdbSNP:398124526
complement(1737)-t, cdbSNP:61750032
complement(1746)-c, adbSNP:376836624
complement(1766)-t, cdbSNP:368175757
complement(1773)-g, adbSNP:41464156
complement(1782)-g, adbSNP:41459448
complement(1785)-g, cdbSNP:372207262
complement(1786)-g, cdbSNP:368880414
complement(1787)-g, adbSNP:199889477
1789..1790+, cdbSNP:80338682
complement(1789)-t, gdbSNP:375082054
1789+, cdbSNP:80338683
complement(1791)-g, adbSNP:374707789
1809+dbSNP:
1809+, tdbSNP:398124527
complement(1819)-t, cdbSNP:112980409
complement(1830)-g, adbSNP:145004158
complement(1836)-g, adbSNP:141283741
complement(1837)-t, cdbSNP:41419545
complement(1840)-g, adbSNP:200724468
complement(1868)-t, cdbSNP:199786696
complement(1877)-t, cdbSNP:150439088
complement(1880)-g, adbSNP:377468280
complement(1883)-g, adbSNP:112196863
1893+c, g, tdbSNP:137852929
complement(1918)-g, cdbSNP:151312899
complement(1922)-g, adbSNP:144883828
complement(1923)-t, gdbSNP:141036419
complement(1967)-dbSNP:
complement(1967)-g, adbSNP:200660337
complement(2017)-t, cdbSNP:376715412
2026..2028+, aagdbSNP:398124529
complement(2027)-t, cdbSNP:199643834
2037+a, gdbSNP:398124530
complement(2063)-dbSNP:
complement(2063)-t, cdbSNP:142288285
2101+c, tdbSNP:398124532
complement(2103)-g, cdbSNP:190965235
complement(2127)-t, cdbSNP:185419942
complement(2196)-g, adbSNP:201810397
complement(2208)-t, cdbSNP:147554296
complement(2213)-t, cdbSNP:201056799
complement(2261)-c, adbSNP:115885284
complement(2262)-g, adbSNP:370269600
complement(2279)-g, adbSNP:149134801
complement(2297)-t, adbSNP:111861140
complement(2422)-t, cdbSNP:145430714
complement(2437)-t, cdbSNP:144507152
complement(2467)-g, adbSNP:76272341
complement(2512)-g, adbSNP:180873537
2565+a, gdbSNP:139734855
complement(2600)-c, adbSNP:7224474
complement(2623)-t, cdbSNP:117436649
complement(2637)-t, cdbSNP:12602675
complement(2647)-g, adbSNP:188840802
complement(2669)-t, cdbSNP:7224335
complement(2686)-g, adbSNP:7224213
complement(2724)-t, gdbSNP:146851795
complement(2772)-t, cdbSNP:184006653
complement(2784)-c, adbSNP:181935335
2801+c, tdbSNP:3803761
complement(2878)-t, gdbSNP:199572622
complement(2958)-t, gdbSNP:189888135
complement(3030)-t, cdbSNP:143768653
complement(3038)-t, cdbSNP:139529824
complement(3094)-g, cdbSNP:185759963
complement(3095)-, gdbSNP:367684498
complement(3158)-g, adbSNP:7223831
complement(3200)-t, cdbSNP:141650706
complement(3395)-g, adbSNP:62064407
complement(3397..3398)-, aaaadbSNP:397932764
complement(3426..3427)-, tdbSNP:199535675
complement(3580)-c, adbSNP:7218992
complement(3596)-c, adbSNP:11654407
complement(3647)-g, adbSNP:7218795
Gene SymbolFLCN
Gene SynonymBHD; FLCL
Chromosome17
Locus Map17p11.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_144997 Homo sapiens folliculin (FLCN), transcript variant 1, mRNA. On-demand $849.00 20
NM_144606 Homo sapiens folliculin (FLCN), transcript variant 2, mRNA. In-stock $418.00 $369.00 10
XM_005256515 PREDICTED: Homo sapiens folliculin (FLCN), transcript variant X2, mRNA. On-demand $849.00 20
XM_006721470 PREDICTED: Homo sapiens folliculin (FLCN), transcript variant X3, mRNA. On-demand $549.00 14
Title Knockdown of Slingshot 2 (SSH2) serine phosphatase induces Caspase3 activation in human carcinoma cell lines with the loss of the Birt-Hogg-Dube tumour suppressor gene (FLCN) .
Author Lu X, Boora U, Seabra L, Rabai EM, Fenton J, Reiman A, Nagy Z and Maher ER.
Journal Oncogene 33 (8), 956-965 (2014)
Title The folliculin tumor suppressor is a GAP for the RagC/D GTPases that signal amino acid levels to mTORC1 .
Author Tsun ZY, Bar-Peled L, Chantranupong L, Zoncu R, Wang T, Kim C, Spooner E and Sabatini DM.
Journal Mol. Cell 52 (4), 495-505 (2013)
Title Birt-Hogg-Dube syndrome is a novel ciliopathy .
Author Luijten MN, Basten SG, Claessens T, Vernooij M, Scott CL, Janssen R, Easton JA, Kamps MA, Vreeburg M, Broers JL, van Geel M, Menko FH, Harbottle RP, Nookala RK, Tee AR, Land SC, Giles RH, Coull BJ and van Steensel MA.
Journal Hum. Mol. Genet. 22 (21), 4383-4397 (2013)
Title Human folliculin delays cell cycle progression through late S and G2/M-phases: effect of phosphorylation and tumor associated mutations .
Author Laviolette LA, Wilson J, Koller J, Neil C, Hulick P, Rejtar T, Karger B, Teh BT and Iliopoulos O.
Journal PLoS ONE 8 (7), E66775 (2013)
Title Birt-Hogg-Dube syndrome in a patient with melanoma and a novel mutation in the FCLN gene .
Author Mota-Burgos A, Acosta EH, Marquez FV, Mendiola M and Herrera-Ceballos E.
Journal Int. J. Dermatol. 52 (3), 323-326 (2013)
Title Clinical and genetic studies of Birt-Hogg-Dube syndrome .
Author Khoo SK, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R, Binet O, Lambert D, Friedel J, Levy R, Ferlicot S, Wolkenstein P, Hammel P, Bergerheim U, Hedblad MA, Bradley M, Teh BT, Nordenskjold M and Richard S.
Journal J. Med. Genet. 39 (12), 906-912 (2002)
Title Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome .
Author Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar
Journal Cancer Cell 2 (2), 157-164 (2002)
Title Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2 .
Author Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, Turner ML, Duray P, Merino M, Hewitt S, Pavlovich CP, Glenn G, Greenberg CR, Linehan WM and Zbar B.
Journal Am. J. Hum. Genet. 69 (4), 876-882 (2001)
Title Birt-Hogg-Dube syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2 .
Author Khoo SK, Bradley M, Wong FK, Hedblad MA, Nordenskjold M and Teh BT.
Journal Oncogene 20 (37), 5239-5242 (2001)
Title Birt-Hogg-Dube Syndrome .
Author Toro,J.R.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.