LHFPL3

LHFPL3
Identifiers
Aliases	LHFPL3, LHFPL4, lipoma HMGIC fusion partner-like 3, LHFPL tetraspan subfamily member 3
External IDs	OMIM: 609719; MGI: 1925076; GeneCards: LHFPL3
Gene location (Human) Chr. Chromosome 7 (human) Band 7q22.2-q22.3 Start 104,328,603 bp End 104,908,561 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 A3 Start 22,951,057 bp End 23,480,595 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lateral nuclear group of thalamus subthalamic nucleus inferior ganglion of vagus nerve ventral tegmental area external globus pallidus amygdala corpus callosum Brodmann area 46 hypothalamus superior vestibular nucleus Top expressed in globus pallidus habenula deep cerebellar nuclei medial dorsal nucleus dorsal tegmental nucleus dorsomedial hypothalamic nucleus ventromedial nucleus lateral hypothalamus inferior colliculi superior colliculus More reference expression data BioGPS n/a
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 375612 269629 Ensembl ENSG00000187416 ENSMUSG00000106379 UniProt Q86UP9 Q9CTN8 RefSeq (mRNA) NM_199000 NM_001386065 NM_001081231 NM_029990 NM_001359998 RefSeq (protein) NP_945351 NP_001074700 NP_084266 NP_001346927 Location (UCSC) Chr 7: 104.33 – 104.91 Mb Chr 5: 22.95 – 23.48 Mb PubMed search
Wikidata
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LHFPL tetraspan subfamily member 3 is a protein that in humans is encoded by the LHFPL3 gene.

Function

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. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008].

Further reading

• Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR (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.
• Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP (2010). "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility". Mol. Psychiatry. 15 (9): 954–68. doi:10.1038/mp.2009.34. PMC 2934739. PMID 19401682.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.