• Gene id: 2798

Gene Summary

• Gene Symbol: GNRHR   Gene   UCSC   Ensembl
• Aliases: GNRHR1, GRHR, HH7, LHRHR, LRHR
• Gene name: gonadotropin releasing hormone receptor
• Alternate names: 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,
• Gene location: 4q13.2 (67754387: 67737117)     Exons: 3     NC_000004.12
• Gene summary(Entrez): 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,
• OMIM: 138850

Protein Summary

• Protein general information: P30968  
  • Name: Gonadotropin releasing hormone receptor (GnRH receptor) (GnRH R)
  • Length: 328  
  • Mass: 37731
  • Tissue specificity: Pituitary, ovary, testis, breast and prostate but not in liver and spleen.
• Sequence:

  MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKLQKWTQKKEKGKKLSR
  MKLLLKHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVLSYLKLFSMYAPAFMMVVISLDRSLAITRPLALK
  SNSKVGQSMVGLAWILSSVFAGPQLYIFRMIHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFIIPLF
  IMLICNAKIIFTLTRVLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWTPYYVLGIWYWFDPEMLNRL
  SDPVNHFFFLFAFLNPCFDPLIYGYFSL

• Structural information:
  • Interpro: IPR000276  IPR017452  IPR001658  
  • Prosite: PS00237 PS50262
  • STRING: ENSP00000226413
• Other Databases: GeneCards:  GNRHR  Malacards:  GNRHR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004968	gonadotropin-releasing hormone receptor activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0042277	peptide binding	IBA	molecular function
GO:0097211	cellular response to gonadotropin-releasing hormone	IEA	biological process
GO:0004871	signal transducer activity	IEA	molecular function
GO:0004930	G-protein coupled receptor activity	IEA	molecular function
GO:0004930	G-protein coupled receptor activity	IEA	molecular function
GO:0004968	gonadotropin-releasing hormone receptor activity	IEA	molecular function
GO:0004968	gonadotropin-releasing hormone receptor activity	TAS	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016500	protein-hormone receptor activity	IEA	molecular function
GO:0042277	peptide binding	IBA	molecular function
GO:0097211	cellular response to gonadotropin-releasing hormone	IEA	biological process
GO:0004968	gonadotropin-releasing hormone receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007186	G-protein coupled receptor signaling pathway	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0042277	peptide binding	IBA	molecular function
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0004968	gonadotropin-releasing hormone receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
GO:0032870	cellular response to hormone stimulus	IBA	biological process
GO:0042277	peptide binding	IBA	molecular function
GO:0016500	protein-hormone receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004968	gonadotropin-releasing hormone receptor activity	TAS	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0097211	cellular response to gonadotropin-releasing hormone	IEA	biological process
GO:0097211	cellular response to gonadotropin-releasing hormone	IEA	biological process
GO:0016020	membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04912	GnRH signaling pathway
hsa04080	Neuroactive ligand-receptor interaction
hsa04912	GnRH signaling pathway

Diseases

Associated diseases	References
Cancer	GAD: 19640273
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (breast)	GAD: 19640273
Obesity	GAD: 20734064
Bone diseases	GAD: 19453261
Psychological disorders	GAD: 19086053
Several psychiatric disorders	GAD: 19086053
Amenorrhoea	GAD: 21247312
Kallmann syndrome (KS)	GAD: 18682503
Polycystic ovary syndrome (PCOS)	INFBASE: 21274726
Hypogonadotropic hypogonadism	KEGG: H00255
Hypogonadotropic hypogonadism	MIK: 23155690
Male factor infertility	MIK: 12568864
Oligozoospermia	MIK: 16968799
Delayed puberty	MIK: 21292259
Hypogonadotropic hypogonadism	INFBASE: 16968799
Congenital hypogonadotropic hypogonadism (CHH)	MIK: 25531638
Hypopituitarism	KEGG: H01700
Hypogonadotropic hypogonadism	KEGG:H00255
Hypogonadotropic hypogonadism	KEGG:H00255
Hypogonadotropic hypogonadism 7 with or without anosmia	PMID:17235395
Congenital hypogonadotropic hypogonadism	MIK: 25531638
Delayed puberty	MIK: 21292259
Idiopathic hypogonadotropic hypogonadism (IHH)	MIK: 11397842
Oligozoospermia	MIK: 16968799

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23155690	Idiopathic hypogonadotropichypogonadism, severity of hypogonadism	GnRHR ( S168R, Gln106Arg and Arg262Gln)	Chinese	42 (40 controls, 2 patients)	Male infertility, Female infertility
16868131	Hypogonadotropic hypogonadism	T104I and the Y108C		2 patient with hypogonadotropic hypogonadism	Male infertility, Female infertility
12568864	Hypogonadotropic hypogonadism (HH)	Arg(139)His (R139H)		1 male patient with the complete form of HH without anosmia	Male infertility
11397871	Hypogonadotropic hypogonadism	Arg(139)His, Asn(10)Lys, Gln(106)Arg,	Brazili an	17 patients (10 males and 7 females) from 14 different families with HH and normal olfaction	Male infertility
11384641	Hypogonadotropic hypogonadism	Arg262Gln/Tyr284Cys		4 complete idiopathic hypogonadotropic hypogonadism	Male infertility, Female infertility
21292259	Delayed puberty	(Phe309del) in GNRHR	Finnish	146 with constitutional delay of growth and puberty	Male infertility	FGFR1 GNRHR TAC3 and TACR3
25531638	Congenital hypogonadotropic hypogonadism	p.R117W mutation in PROK2, p.E90K mutation in GNRHR		2 patients, controls	Male infertility	GNRHR PROKR2 FGFR1
17235395	Idiopathic hypogonadotropic hypogonadism (IHH)	FGFR1 mutation		2 families one with Kallmann syndrome (IHH and anosmia) and another with normosmic IHH,	Male infertility	FGFR1 LHRH factor (NELF) GNRHR
17223984	Idiopathic hypogonadotropic hypogonadism (IHH)	GnRHR gene sequence analysis showed no mutations. KAL1 sequence analysis identified two novel missense mutations: c.1061A to G in exon 7 (N304S) and c.1583C to A in exon 10 (S478X), rs808119, rs809446	Brazili an	26 Brazilian males with IHH with and without hyposmia/anosmia	Male infertility	GnRHR KAL1
16968799	Oligospermia, isolated hypogonadotropic hypogonadism (IHH)	GnRHR (R262Q)		11 (8 patients included sibling pairs with delayed puberty, 3 in whom one brother had delayed puberty and another had hypogonadotropic hypogonadism)	Male infertility	GNRHR
11397842	Idiopathic hypogonadotropic hypogonadism (IHH)	GnRHR (Q106R)		1 patient with IHH	Male infertility	GnRHR
30947225	Normosmic Hypogonadotropic Hypogonadism	g.68619942G>A, c.112C>T, p.Arg38*	Pakista ni	4 cases	Male infertility, Female infertility	NGS
29777911	Idiopathic hypogonadotropic hypogonadism	c.364C>T, p.L122F	Han Chi nese	3 cases	Male infertility	NGS