LHFPL2

From Wikipedia, the free encyclopedia


Lipoma HMGIC fusion partner-like 2
Identifiers
Symbol(s) LHFPL2; DKFZp781E0375; KIAA0206
External IDs OMIM: 609718 MGI: 2145236 HomoloGene: 4222
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 10184 218454
Ensembl ENSG00000145685 ENSMUSG00000045312
Uniprot Q6ZUX7 Q8BGA2
Refseq NM_005779 (mRNA)
NP_005770 (protein)		 NM_172589 (mRNA)
NP_766177 (protein)
Location Chr 5: 77.82 - 77.84 Mb Chr 13: 95.16 - 95.3 Mb
Pubmed search [1] [2]

Lipoma HMGIC fusion partner-like 2, also known as LHFPL2, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: LHFPL2 lipoma HMGIC fusion partner-like 2.

[edit] Further reading

  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55-65. doi:10.1101/gr.4039406. PMID 16344560. 
  • Longo-Guess CM, Gagnon LH, Cook SA, et al. (2005). "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. doi:10.1073/pnas.0500760102. PMID 15905332. 
  • Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.". Nat. Biotechnol. 22 (6): 707-16. doi:10.1038/nbt971. PMID 15146197. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039. 
  • Petit MM, Schoenmakers EF, Huysmans C, et al. (1999). "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. doi:10.1006/geno.1999.5778. PMID 10329012. 
  • Nagase T, Seki N, Ishikawa K, et al. (1997). "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. PMID 9039502. 
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791-806. PMID 8889548. 
 This article on a gene on chromosome 5 is a stub. You can help Wikipedia by expanding it.