LHFPL2

LHFPL2
Identifiers
Aliases	LHFPL2, lipoma HMGIC fusion partner-like 2, LHFPL tetraspan subfamily member 2
External IDs	OMIM: 609718; MGI: 2145236; GeneCards: LHFPL2
Gene location (Human)
Chr.	Chromosome 5 (human)
End	78,770,021 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	94,331,917 bp
RNA expression pattern
	Top expressed in
	vena cava; ; Achilles tendon; ; synovial membrane; ; synovial joint; ; cartilage tissue; ; olfactory bulb; ; saphenous vein; ; tendon of biceps brachii; ; pericardium; ; duodenum;
	Top expressed in
	medullary collecting duct; ; epithelium of lens; ; otolith organ; ; utricle; ; retinal pigment epithelium; ; cumulus cell; ; efferent ductule; ; ciliary body; ; iris; ; decidua;
	More reference expression data
	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
Databases	NCBI: entry; OMA: entry
	10184
	218454
	ENSG00000145685
	ENSMUSG00000045312
	Q6ZUX7
	Q8BGA2
	NM_005779
	NM_172589
	NP_005770
	NP_766177
	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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000145685 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000045312 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
1 2 "Entrez Gene: LHFPL2 lipoma HMGIC fusion partner-like 2".

External links

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

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000145685 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid10329012-5] 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.

[entrez-6] 1 2 "Entrez Gene: LHFPL2 lipoma HMGIC fusion partner-like 2".

LHFPL2

References

Further reading

External links