Gene: GHSR

Alternate names for this Gene: GHDP

Gene Summary: This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.

Gene is located in Chromosome: 3

Location in Chromosome : 3q26.31

Description of this Gene: growth hormone secretagogue receptor

Type of Gene: protein-coding

rs509035 in GHSR gene and Body Height PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

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

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs121917883 in GHSR gene and Dysmorphic features PMID 27023906 2016 Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

PMID 21646290 2011 Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.

PMID 16511605 2006 Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.

PMID 19789204 2009 Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.

rs572169 in GHSR gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

rs509035 in GHSR gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs121917883 in GHSR gene and Short Stature, Idiopathic, Autosomal PMID 16511605 2006 Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.

PMID 19789204 2009 Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor.