GNRHR: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

GNRHR

Aliases

GNRHR1, GRHR, HH7, LHRHR, LRHR

Entrez Gene ID

2798

Gene Name

Gonadotropin releasing hormone receptor

Chromosomal Location

4q13.2

HGNC ID

HGNC:4421

Summary

This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_009293.1

RefSeq mRNA

NM_000406.3, NM_001012763.2

e!Ensembl

Gene	ENSG00000109163
Transcript	ENST00000226413, ENST00000420975
Protein	ENSP00000226413, ENSP00000397561

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs1038426	GGGGCACAGAGAGAGTCTGGACACGT	-/G	GGGGAGTCAGCCGTGTATCATCGGA	Utr variant 3 prime	21274726

Gene Ontology (GO)

Show/Hide all(7 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007186	Biological process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007275	Biological process	Multicellular organism development	TAS	10686191
GO:0032870	Biological process	Cellular response to hormone stimulus	IBA	21873635
GO:0005887	Cellular component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Cellular component	Integral component of plasma membrane	TAS	8386108
GO:0016020	Cellular component	Membrane	TAS	9259321
GO:0004968	Molecular function	Gonadotropin-releasing hormone receptor activity	IBA	21873635

Protein Information

Protein Name

Gonadotropin-releasing hormone receptor, gnRH receptor, gnRH-R, gonadotropin-releasing hormone (type 1) receptor 1, leutinizing hormone releasing horomone receptor, leutinizing-releasing hormone receptor, luliberin receptor, type I GnRH receptor

Function

Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling

Refseq Proteins

NP_000397.1, NP_001012781.1

UniProt

P30968

Pfam

Pfam Accession	Pfam ID
PF00001	7tm_1