LHFPL2

LHFPL2
Identifiers
Aliases	LHFPL2 , lipoma HMGIC fusion partner-like 2, LHFPL tetraspan subfamily member 2
External IDs	OMIM: 609718 MGI: 2145236 HomoloGene: 4222 GeneCards: LHFPL2
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q14.1 Start 78,485,215 bp [1] End 78,770,021 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13|13 C3 Start 94,057,796 bp [2] End 94,195,409 bp [2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • molecular function Cellular component • membrane • integral component of membrane • plasma membrane • platelet alpha granule membrane • cellular component Biological process • platelet degranulation • development of primary female sexual characteristics • development of primary male sexual characteristics • positive regulation of fertilization • single fertilization • biological process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	10184	218454
Ensembl	ENSG00000145685	ENSMUSG00000045312
UniProt	Q6ZUX7	Q8BGA2
RefSeq (mRNA)	NM_005779	NM_172589
RefSeq (protein)	NP_005770	NP_766177
Location (UCSC)	Chr 5: 78.49 – 78.77 Mb	Chr 13: 94.06 – 94.2 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Lipoma HMGIC fusion partner-like 2 protein is a protein that in humans is encoded by the LHFPL2 gene. ^{[5] [6]}

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. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000145685 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000045312 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Petit MM, Schoenmakers EF, Huysmans C, Geurts JM, Mandahl N, Van de Ven WJ (Aug 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.
6. "Entrez Gene: LHFPL2 lipoma HMGIC fusion partner-like 2".

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. PMC   1356129 . 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 . PMC   1142366 . 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. S2CID   27764390.
• 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.
• 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. doi: 10.1093/dnares/3.5.321 . PMID   9039502.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.

External links

• LHFPL2 human gene location in the UCSC Genome Browser .
• LHFPL2 human gene details in the UCSC Genome Browser .