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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

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RefSeq Version NM_144997.5, 186928861
Length 3723 bp
Structure linear
Update Date 29-APR-2013
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
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Position Chain Variation Link
complement(18)-dbSNP:
complement(18)-g, cdbSNP: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
complement(206)-t, cdbSNP:1708629
complement(221)-g, cdbSNP:78262456
complement(223)-g, cdbSNP:78918950
complement(225)-c, adbSNP:75014442
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(579)-t, cdbSNP:200350612
complement(590)-g, adbSNP:150051278
complement(617)-c, adbSNP:139418842
complement(740)-g, cdbSNP:137852930
complement(750)-g, adbSNP:150712346
complement(772)-dbSNP:
complement(772)-c, adbSNP:141140415
complement(783)-t, cdbSNP:138688941
complement(954)-dbSNP:
complement(954)-g, adbSNP:200672897
complement(955)-t, cdbSNP:147164515
complement(1056)-t, gdbSNP:143525924
complement(1076..1077)-, cdbSNP:34867548
complement(1084)-g, adbSNP:138070947
complement(1090)-t, cdbSNP:201078144
complement(1096)-t, cdbSNP:200168437
complement(1207)-dbSNP:
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(1239)-t, gdbSNP:150175875
complement(1296)-dbSNP:
complement(1296)-t, cdbSNP:140500421
complement(1338)-c, adbSNP:146801028
complement(1435)-dbSNP:
complement(1435)-g, adbSNP:140246224
complement(1453)-t, cdbSNP:147142086
complement(1463)-t, cdbSNP:143483053
complement(1481)-g, adbSNP:138031155
complement(1496)-g, adbSNP:202215080
complement(1548)-g, adbSNP:200224064
complement(1553)-t, cdbSNP:190786280
complement(1579)-dbSNP:
complement(1579)-g, adbSNP:184718358
complement(1613)-g, adbSNP:200877872
complement(1653)-g, adbSNP:150752548
complement(1659)-c, adbSNP:141250189
complement(1702)-dbSNP:
complement(1702)-c, adbSNP:148257120
complement(1705)-g, adbSNP:143183215
complement(1737)-t, cdbSNP:61750032
complement(1773)-g, adbSNP:41464156
complement(1782)-g, adbSNP:41459448
complement(1787)-g, adbSNP:199889477
1789..1790+, cdbSNP:80338682
complement(1789)-, cdbSNP:80338683
complement(1819)-dbSNP:
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(1883)-g, adbSNP:112196863
complement(1893)-t, g, cdbSNP: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(2027)-t, cdbSNP:199643834
complement(2063)-dbSNP:
complement(2063)-t, cdbSNP:142288285
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(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
complement(2565)-g, adbSNP: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
complement(2801)-t, cdbSNP: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(3158)-g, adbSNP:7223831
complement(3200)-t, cdbSNP:141650706
complement(3395)-g, adbSNP:62064407
complement(3422..3423)-, a, aaaadbSNP:55976556
complement(3423..3424)-, adbSNP:11437983
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_144606 Homo sapiens folliculin (FLCN), transcript variant 2, mRNA. In-stock $418.00 $369.00 10
NM_144997 Homo sapiens folliculin (FLCN), transcript variant 1, mRNA. On-demand $849.00 20
Title Regulation of mitochondrial oxidative metabolism by tumor suppressor FLCN .
Author Hasumi,H., Baba,M., Hasumi,Y., Huang,Y., Oh,H., Hughes,R.M., Klein,M.E., Takikita,S., Nagashima,K., Schmidt,L.S. and Linehan,W.M.
Journal J. Natl. Cancer Inst. 104 (22), 1750-1764 (2012)
Title Gene expression and protein array studies of folliculin-regulated pathways .
Author Reiman,A., Lu,X., Seabra,L., Boora,U., Nahorski,M.S., Wei,W. and Maher,E.R.
Journal Anticancer Res. 32 (11), 4663-4670 (2012)
Title The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dube syndrome is required for murine B-cell development .
Author Baba,M., Keller,J.R., Sun,H.W., Resch,W., Kuchen,S., Suh,H.C., Hasumi,H., Hasumi,Y., Kieffer-Kwon,K.R., Gonzalez,C.G., Hughes,R.M., Klein,M.E., Oh,H.F., Bible,P., Southon,E., Tessarollo,L., Schmidt,L.S., Linehan,W.M. and Casellas,R.
Journal Blood 120 (6), 1254-1261 (2012)
Title Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax .
Author Kim,J., Yoo,J.H., Kang,D.Y., Cho,N.J. and Lee,K.A.
Journal Gene 499 (2), 339-342 (2012)
Title Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion .
Author Medvetz,D.A., Khabibullin,D., Hariharan,V., Ongusaha,P.P., Goncharova,E.A., Schlechter,T., Darling,T.N., Hofmann,I., Krymskaya,V.P., Liao,J.K., Huang,H. and Henske,E.P.
Journal PLoS ONE 7 (11), E47842 (2012)
Title Mutations of the Birt-Hogg-Dube (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability .
Author Shin,J.H., Shin,Y.K., Ku,J.L., Jeong,S.Y., Hong,S.H., Park,S.Y., Kim,W.H. and Park,J.G.
Journal J. Med. Genet. 40 (5), 364-367 (2003)
Title Clinical and genetic studies of Birt-Hogg-Dube syndrome .
Author Khoo,S.K., 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,M.A., Bradley,M., Teh,B.T., 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,M.L., Warren,M.B., Toro,J.R., Matrosova,V., Glenn,G., Turner,M.L., Duray,P., Merino,M., Choyke,P., Pavlovich,C.P., Sharma,N., Walther,M., Munroe,D., Hill,R., Maher,E., Greenberg,C., Lerman,M.I., Linehan,W.M., Zbar,B. and Schmidt,L.S.
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,L.S., Warren,M.B., Nickerson,M.L., Weirich,G., Matrosova,V., Toro,J.R., Turner,M.L., Duray,P., Merino,M., Hewitt,S., Pavlovich,C.P., Glenn,G., Greenberg,C.R., Linehan,W.M. 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,S.K., Bradley,M., Wong,F.K., Hedblad,M.A., Nordenskjold,M. and Teh,B.T.
Journal Oncogene 20 (37), 5239-5242 (2001)


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