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) Band 5q14.1 Start 78,485,215 bp End 78,770,021 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13|13 C3 Start 94,194,304 bp End 94,331,917 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vena cava Achilles tendon synovial membrane synovial joint olfactory bulb saphenous vein pericardium duodenum smooth muscle tissue mucosa of urinary bladder Top expressed in medullary collecting duct otolith organ utricle retinal pigment epithelium cumulus cell ciliary body iris dermis renal corpuscle vas deferens More reference expression data BioGPS 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: 94.19 – 94.33 Mb PubMed search
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.

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, 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. Bibcode:2005PNAS..102.7894L. 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.