Gene: LHFPL2

Alternate names for this Gene: -

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.1

Description of this Gene: LHFPL tetraspan subfamily member 2

Type of Gene: protein-coding

rs7709066 in LHFPL2 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs10942863 in LHFPL2 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs344650 in LHFPL2 gene and Parkinson Disease PMID 27402877 2016 Identification of genetic modifiers of age-at-onset for familial Parkinson's disease.

rs72315235 in LHFPL2 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs72315235 in LHFPL2 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34797797 in LHFPL2 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.