Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.
| RefSeq Version | NM_144997.5, 186928861 |
| Length | 3723 bp |
| Structure | linear |
| Update Date | 26-MAR-2011 |
| 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]. Transcript Variant: This variant (1) encodes the longer isoform (1). |
| RefSeq | NP_659434.2 |
| CDS | 505..2244 | Exon (1) | 1..277 | Exon (2) | 1..277 | Exon (3) | 278..391 | Exon (4) | 392..480 | Exon (5) | 481..753 | Exon (6) | 754..900 | Exon (7) | 901..1122 | Exon (8) | 1123..1283 | Exon (9) | 1284..1375 | Exon (10) | 1376..1566 | Exon (11) | 1567..1680 | Exon (12) | 1681..1804 | Exon (13) | 1805..1936 | Exon (14) | 1937..2042 | Exon (15) | 2043..3687 |
| Translation | MNAIVALCHFCELHGPRTLFCTEVLHAPLPQGDGNEDSPGQGEQAEEEEGGIQMNSRMRA
HSPAEGASVESSSPGPKKSDMCEGCRSLAAGHPGYISHDKETSIKYVSHQHPSHPQLFSI
VRQACVRSLSCEVCPGREGPIFFGDEQHGFVFSHTFFIKDSLARGFQRWYSIITIMMDRI
YLINSWPFLLGKVRGIIDELQGKALKVFEAEQFGCPQRAQRMNTAFTPFLHQRNGNAARS
LTSLTSDDNLWACLHTSFAWLLKACGSRLTEKLLEGAPTEDTLVQMEKLADLEEESESWD
NSEAEEEEKAPVLPESTEGRELTQGPAESSSLSGCGSWQPRKLPVFKSLRHMRQVLGAPS
FRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLRTMLPVGCVRIIPYSSQYEEAYRCNFLGL
SPHVQIPPHVLSSEFAVIVEVHAAARSTLHPVGCEDDQSLSKYEFVVTSGSPVAADRVGP
TILNKIEAALTNQNLSVDVVDQCLVCLKEEWMNKVKVLFKFTKVDSRPKEDTQKLLSILG
ASEEDNVKLLKFWMTGLSKTYKSHLMSTVRSPTASESRN
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| Position | Chain | Variation | Link |
| 18 | + | c, g | dbSNP:1736209 |
| complement(203) | - | t, c | dbSNP:41345949 |
| 206 | + | c, t | dbSNP:1708629 |
| complement(221) | - | g, c | dbSNP:78262456 |
| complement(223) | - | g, c | dbSNP:78918950 |
| complement(225) | - | c, a | dbSNP:75014442 |
| complement(329) | - | t, c | dbSNP:117215381 |
| complement(371) | - | g, a | dbSNP:116581458 |
| complement(408) | - | g, a | dbSNP:114481741 |
| complement(412) | - | g, a | dbSNP:115413827 |
| complement(415) | - | t, c | dbSNP:8069957 |
| complement(1073..1074) | - | , c | dbSNP:34867548 |
| complement(1215) | - | g, a | dbSNP:111258744 |
| complement(1219) | - | g, a | dbSNP:78683075 |
| complement(1230) | - | t, a | dbSNP:113938514 |
| complement(1737) | - | t, c | dbSNP:61750032 |
| complement(1773) | - | g, a | dbSNP:41464156 |
| complement(1782) | - | g, a | dbSNP:41459448 |
| 1789..1790 | + | , c | dbSNP:80338682 |
| 1789 | + | , c | dbSNP:80338683 |
| complement(1819) | - | t, c | dbSNP:112980409 |
| complement(1837) | - | t, c | dbSNP:41419545 |
| complement(1883) | - | g, a | dbSNP:112196863 |
| complement(2261) | - | c, a | dbSNP:115885284 |
| complement(2297) | - | t, a | dbSNP:111861140 |
| complement(2467) | - | g, a | dbSNP:76272341 |
| complement(2600) | - | c, a | dbSNP:7224474 |
| complement(2623) | - | t, c | dbSNP:117436649 |
| complement(2637) | - | t, c | dbSNP:12602675 |
| complement(2669) | - | t, c | dbSNP:7224335 |
| complement(2686) | - | g, a | dbSNP:7224213 |
| 2801 | + | c, t | dbSNP:3803761 |
| complement(3158) | - | g, a | dbSNP:7223831 |
| complement(3395) | - | g, a | dbSNP:62064407 |
| complement(3397..3398) | - | , aaaa | dbSNP:55976556 |
| complement(3405..3406) | - | , aaaa | dbSNP:72354607 |
| complement(3422..3423) | - | , a | dbSNP:71787110 |
| complement(3423..3424) | - | , a | dbSNP:11437983 |
| complement(3580) | - | c, a | dbSNP:7218992 |
| complement(3596) | - | c, a | dbSNP:11654407 |
| complement(3647) | - | g, a | dbSNP:7218795 |
| Gene Symbol | FLCN |
| Gene Synonym | BHD; DKFZp547A118; FLCL; FLJ45004; FLJ99377; MGC17998; MGC23445 |
| Chromosome | 17 |
| Locus Map | 17p11.2 |
| All Transcripts | NM_144997 , NM_144606 |
| Title | Multiple desmoplastic melanomas in Birt-Hogg-Dube syndrome and a proposed signaling link between folliculin, the mTOR pathway, and melanoma susceptibility . |
| Author | Cocciolone,R.A., Crotty,K.A., Andrews,L., Haass,N.K. and Moloney,F.J. |
| Journal | Arch Dermatol 146 (11), 1316-1318 (2010) |
| Title | Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer . |
| Author | Nahorski,M.S., Lim,D.H., Martin,L., Gille,J.J., McKay,K., Rehal,P.K., Ploeger,H.M., van Steensel,M., Tomlinson,I.P., Latif,F., Menko,F.H. and Maher,E.R. |
| Journal | J. Med. Genet. 47 (6), 385-390 (2010) |
| Title | Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature . |
| Author | Kunogi,M., Kurihara,M., Ikegami,T.S., Kobayashi,T., Shindo,N., Kumasaka,T., Gunji,Y., Kikkawa,M., Iwakami,S., Hino,O., Takahashi,K. and Seyama,K. |
| Journal | J. Med. Genet. 47 (4), 281-287 (2010) |
| Title | [Intra- and interfamilial phenotype variation in Birt-Hogg-Dube syndrome: Consequences for therapy] . |
| Author | Steff,M., Bourillon,A., Frebourg,T., Balderi,X., Descamps,V., Joly,P., Piette,F., Crestani,B., Grandchamp,B. and Soufir,N. |
| Journal | Ann Dermatol Venereol 137 (3), 203-207 (2010) |
| Title | Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation . |
| Author | Sundaram,S., Tasker,A.D. and Morrell,N.W. |
| Journal | Eur. Respir. J. 33 (6), 1510-1512 (2009) |
| 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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