• Gene id: 2692

Gene Summary

• Gene Symbol: GHRHR   Gene   UCSC   Ensembl
• Aliases: GHRFR, GRFR, IGHD1B, IGHD4
• Gene name: growth hormone releasing hormone receptor
• Alternate names: growth hormone-releasing hormone receptor, GHRH receptor, GRF receptor,
• Gene location: 7p14.3 (30963952: 30979527)     Exons: 13     NC_000007.14
• Gene summary(Entrez): This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also k
• OMIM: 139191

Protein Summary

• Protein general information: Q02643  
  • Name: Growth hormone releasing hormone receptor (GHRH receptor) (Growth hormone releasing factor receptor) (GRF receptor) (GRFR)
  • Length: 423  
  • Mass: 47402
  • Tissue specificity: Pituitary gland.
• Sequence:

  MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLCWPTAGSGEWVT
  LPCPDFFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITI
  LVALRRLHCPRNYVHTQLFTTFILKAGAVFLKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAV
  YLNCLLASTSPSSRRAFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLF
  LNIIRILVRKLEPAQGSLHTQSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAIL
  YCFLNQEVRTEISRKWHGHDPELLPAWRTRAKWTTPSRSAAKVLTSMC

• Structural information:
  • Interpro: IPR017981  IPR036445  IPR001879  IPR003288  IPR000832   IPR017983  
  • Prosite: PS00649 PS00650 PS50227 PS50261
  • PDB: 2XDG
  • PDBsum: 2XDG
  • STRING: ENSP00000320180
• Other Databases: GeneCards:  GHRHR  Malacards:  GHRHR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0008284	positive regulation of cell population proliferation	IBA	biological process
GO:0016520	growth hormone-releasing hormone receptor activity	IBA	molecular function
GO:0017046	peptide hormone binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0008528	G protein-coupled peptide receptor activity	IBA	molecular function
GO:0019838	growth factor binding	IBA	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of 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:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0060124	positive regulation of growth hormone secretion	IEA	biological process
GO:0019933	cAMP-mediated signaling	IEA	biological process
GO:0016520	growth hormone-releasing hormone receptor activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0060124	positive regulation of growth hormone secretion	IEA	biological process
GO:0046887	positive regulation of hormone secretion	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0030104	water homeostasis	IEA	biological process
GO:0017046	peptide hormone binding	IEA	molecular function
GO:0016520	growth hormone-releasing hormone receptor activity	IEA	molecular function
GO:0008340	determination of adult lifespan	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0046010	positive regulation of circadian sleep/wake cycle, non-REM sleep	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0007190	activation of adenylate cyclase activity	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0060133	somatotropin secreting cell development	IEA	biological process
GO:0051246	regulation of protein metabolic process	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0043567	regulation of insulin-like growth factor receptor signaling pathway	IEA	biological process
GO:0042445	hormone metabolic process	IEA	biological process
GO:0033143	regulation of intracellular steroid hormone receptor signaling pathway	IEA	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0021984	adenohypophysis development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016520	growth hormone-releasing hormone receptor activity	IMP	molecular function
GO:0017046	peptide hormone binding	IPI	molecular function
GO:0004930	G protein-coupled receptor activity	IC	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019838	growth factor binding	IPI	molecular function
GO:0005637	nuclear inner membrane	IDA	cellular component
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0016363	nuclear matrix	IDA	cellular component
GO:0030141	secretory granule	IDA	cellular component
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	biological process
GO:0043627	response to estrogen	IDA	biological process
GO:0051384	response to glucocorticoid	IDA	biological process
GO:0019933	cAMP-mediated signaling	IMP	biological process
GO:0032868	response to insulin	IMP	biological process
GO:0040018	positive regulation of multicellular organism growth	IMP	biological process
GO:0048609	multicellular organismal reproductive process	NAS	biological process
GO:0060124	positive regulation of growth hormone secretion	NAS	biological process
GO:0005640	nuclear outer membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0043568	positive regulation of insulin-like growth factor receptor signaling pathway	NAS	biological process
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04935	Growth hormone synthesis, secretion and action

Diseases

Associated diseases	References
Growth hormone deficiency	KEGG:H00254
Isolated growth hormone deficiency	KEGG:H02035
Growth hormone deficiency	KEGG:H00254
Isolated growth hormone deficiency	KEGG:H02035
Isolated growth hormone deficiency	PMID:8528260
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)