Gene: LHCGR

Alternate names for this Gene: HHG|LCGR|LGR2|LH/CG-R|LH/CGR|LHR|LHRHR|LSH-R|ULG5

Gene Summary: This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: luteinizing hormone/choriogonadotropin receptor

Type of Gene: protein-coding

Gene: STON1-GTF2A1L

Alternate names for this Gene: ALF|GTF2A1L|GTF2A1LF|SALF

Gene Summary: STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: STON1-GTF2A1L readthrough

Type of Gene: protein-coding

rs17326656 in LHCGR;STON1-GTF2A1L gene and Waist-Hip Ratio PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

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