LHFPL2 explained
Lipoma HMGIC fusion partner-like 2 protein is a protein that in humans is encoded by the LHFPL2 gene.[1] [2]
This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.
Further reading
- Kimura K . Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . vanc. Wakamatsu A . Suzuki Y . 3 . Ota . T . Nishikawa . T . Yamashita . R . Yamamoto . J . Sekine . M . Tsuritani . K .
- Longo-Guess CM . A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice . Proc. Natl. Acad. Sci. U.S.A. . 102 . 22 . 7894–9 . 2005 . 15905332 . 10.1073/pnas.0500760102 . 1142366 . vanc. Gagnon LH . Cook SA . 3 . Wu . J. . Zheng . Q. Y. . Johnson . K. R. . 2005PNAS..102.7894L . free .
- Brandenberger R . Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation . Nat. Biotechnol. . 22 . 6 . 707–16 . 2005 . 15146197 . 10.1038/nbt971 . vanc. Wei H . Zhang S . 3 . Lei . Shirley . Murage . Jaji . Fisk . Gregory J . Li . Yan . Xu . Chunhui . Fang . Rixun . 27764390 .
- Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
- Nagase T . Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain . DNA Res. . 3 . 5 . 321–9, 341–54 . 1997 . 9039502 . 10.1093/dnares/3.5.321 . vanc. Seki N . Ishikawa K . 3 . Ohira . M . Kawarabayasi . Y . Ohara . O . Tanaka . A . Kotani . H . Miyajima . N . free .
- Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
Notes and References
- Petit MM, Schoenmakers EF, Huysmans C, Geurts JM, Mandahl N, Van de Ven WJ . LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes . Genomics . 57 . 3 . 438–41 . Aug 1999 . 10329012 . 10.1006/geno.1999.5778 .
- Web site: Entrez Gene: LHFPL2 lipoma HMGIC fusion partner-like 2.