Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2692
Gene name	Growth hormone releasing hormone receptor
Gene symbol	GHRHR
Synonyms (NCBI Gene)	GHRFRGRFRIGHD1BIGHD4
Chromosome	7
Chromosome location	7p14.3
Summary	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

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2302022	G>A,T	Uncertain-significance, pathogenic	Splice donor variant
rs121918117	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121918118	T>A	Pathogenic	Missense variant, coding sequence variant
rs121918119	T>G	Pathogenic	Missense variant, coding sequence variant
rs121918120	C>A	Pathogenic	Missense variant, coding sequence variant
rs121918121	A>G	Pathogenic	Missense variant, coding sequence variant
rs146944568	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200848306	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs606231412	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs606231413	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs748432685	ACTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs779187338	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562592874	G>A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (32)

miRTarBase ID	miRNA	Experiments
MIRT1018503	hsa-let-7a	CLIP-seq
MIRT1018504	hsa-let-7b	CLIP-seq
MIRT1018505	hsa-let-7c	CLIP-seq
MIRT1018506	hsa-let-7d	CLIP-seq
MIRT1018507	hsa-let-7e	CLIP-seq
MIRT1018508	hsa-let-7f	CLIP-seq
MIRT1018509	hsa-let-7g	CLIP-seq
MIRT1018510	hsa-let-7i	CLIP-seq
MIRT1018511	hsa-miR-140-3p	CLIP-seq
MIRT1018512	hsa-miR-3529	CLIP-seq
MIRT1018513	hsa-miR-379	CLIP-seq
MIRT1018514	hsa-miR-3927	CLIP-seq
MIRT1018515	hsa-miR-4257	CLIP-seq
MIRT1018516	hsa-miR-4458	CLIP-seq
MIRT1018517	hsa-miR-4500	CLIP-seq
MIRT1018518	hsa-miR-98	CLIP-seq
MIRT2538701	hsa-miR-1913	CLIP-seq
MIRT2538702	hsa-miR-3130-3p	CLIP-seq
MIRT2538703	hsa-miR-324-3p	CLIP-seq
MIRT2538704	hsa-miR-4446-3p	CLIP-seq
MIRT2538705	hsa-miR-4492	CLIP-seq
MIRT2538706	hsa-miR-4498	CLIP-seq
MIRT2538707	hsa-miR-4505	CLIP-seq
MIRT2538708	hsa-miR-762	CLIP-seq
MIRT2538701	hsa-miR-1913	CLIP-seq
MIRT2538702	hsa-miR-3130-3p	CLIP-seq
MIRT2538703	hsa-miR-324-3p	CLIP-seq
MIRT2538704	hsa-miR-4446-3p	CLIP-seq
MIRT2538705	hsa-miR-4492	CLIP-seq
MIRT2538706	hsa-miR-4498	CLIP-seq
MIRT2538707	hsa-miR-4505	CLIP-seq
MIRT2538708	hsa-miR-762	CLIP-seq

Show/Hide all (66)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IC	7680413
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	1333056, 7680413
GO:0005637	Component	Nuclear inner membrane	IDA	10461027
GO:0005640	Component	Nuclear outer membrane	IDA	10461027
GO:0005737	Component	Cytoplasm	IDA	10461027
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10461027
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	1333056, 7680413
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007595	Process	Lactation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	12867592
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008528	Function	G protein-coupled peptide receptor activity	IBA
GO:0009986	Component	Cell surface	IDA	1333056
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IDA	1333056
GO:0016020	Component	Membrane	IEA
GO:0016363	Component	Nuclear matrix	IDA	10461027
GO:0016520	Function	Growth hormone-releasing hormone receptor activity	IBA
GO:0016520	Function	Growth hormone-releasing hormone receptor activity	IEA
GO:0016520	Function	Growth hormone-releasing hormone receptor activity	IMP	7680413
GO:0017046	Function	Peptide hormone binding	IBA
GO:0017046	Function	Peptide hormone binding	IEA
GO:0017046	Function	Peptide hormone binding	IPI	7680413
GO:0019838	Function	Growth factor binding	IBA
GO:0019838	Function	Growth factor binding	IPI	7680413
GO:0021984	Process	Adenohypophysis development	IEA
GO:0030141	Component	Secretory granule	IDA	10461027
GO:0030252	Process	Growth hormone secretion	IEA
GO:0030879	Process	Mammary gland development	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032868	Process	Response to insulin	IMP	17356054
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0033143	Process	Regulation of intracellular steroid hormone receptor signaling pathway	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IMP	8528260
GO:0042383	Component	Sarcolemma	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0043567	Process	Regulation of insulin-like growth factor receptor signaling pathway	IEA
GO:0043568	Process	Positive regulation of insulin-like growth factor receptor signaling pathway	NAS	11773624
GO:0043627	Process	Response to estrogen	IDA	9482665
GO:0046010	Process	Positive regulation of circadian sleep/wake cycle, non-REM sleep	IEA
GO:0046879	Process	Hormone secretion	IEA
GO:0046887	Process	Positive regulation of hormone secretion	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0051246	Process	Regulation of protein metabolic process	IEA
GO:0051384	Process	Response to glucocorticoid	IDA	9482665
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060124	Process	Positive regulation of growth hormone secretion	IEA
GO:0060124	Process	Positive regulation of growth hormone secretion	IEA
GO:0060124	Process	Positive regulation of growth hormone secretion	NAS	11773624
GO:0060133	Process	Somatotropin secreting cell development	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0141156	Process	CAMP/PKA signal transduction	IEA

MIM	HGNC	e!Ensembl
139191	4266	ENSG00000106128

Q02643

Protein name

Growth hormone-releasing hormone receptor (GHRH receptor) (Growth hormone-releasing factor receptor) (GRF receptor) (GRFR)

Protein function

Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.

PDB

2XDG , 7CZ5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02793	HRM	52 → 115	Hormone receptor domain	Family
PF00002	7tm_2	126 → 372	7 transmembrane receptor (Secretin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Pituitary gland.

Sequence

MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWD
GLLCWPTAGSGEWVTLPCPDFFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLA
EEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCPRNYVHTQLFTTFILKAGAVF
LKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRR
AFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLF
LNIIRILVRKLEPAQGSLHTQSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPL
ELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLPAWRTRAKWTTPSRSAAKVLT
SMC

Sequence length

423

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Hormone signaling Growth hormone synthesis, secretion and action		G alpha (s) signalling events Glucagon-type ligand receptors ADORA2B mediated anti-inflammatory cytokines production

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Isolated growth hormone deficiency type IB	Likely pathogenic; Pathogenic	rs200848306, rs606231412, rs606231413, rs1562606449	RCV000148941 RCV000148940 RCV000148942 RCV000768416
Isolated growth hormone deficiency, type 4	Pathogenic; Likely pathogenic	rs2128598609, rs376948691, rs774281185, rs200848306, rs779187338, rs1313808810, rs121918117, rs2302022, rs121918118, rs121918119, rs121918120, rs121918121, rs2128596101, rs570281194, rs758798716, rs1049885467 View all (1 more)	RCV001374715 RCV001783363 RCV003317586 RCV003992197 RCV003992209 RCV003145839 RCV000017360 RCV000017361 RCV000017362 RCV000017363 RCV000017364 RCV000017365 RCV000017366 RCV005036434 RCV004699295 RCV001293712

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1368616115	-
Disorder of sexual differentiation	Uncertain significance	rs2128598348	RCV001568322
GHRHR-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs375674796, rs549927188, rs151019928, rs35609199, rs2535160752, rs4988496, rs4988498, rs117572522, rs144372265	RCV003923600 RCV003958547 RCV003977769 RCV003972515 RCV003898947 RCV003974858 RCV003974859 RCV003932887 RCV003953547
Idiopathic growth hormone deficiency	Benign	rs4988496, rs4988498, rs4988499, rs740336	RCV000029936 RCV000029937 RCV000029938 RCV000029939
Isolated congenital growth hormone deficiency	Uncertain significance	rs746565662	RCV000404933

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	25843330, 26433351
Breast Neoplasms	Associate	17372203, 24479854
Calcinosis	Associate	24479854
Cancer Pain	Associate	39201517
Carcinoma Ductal	Stimulate	24479854
Carcinoma Lobular	Stimulate	24479854
Colorectal Neoplasms	Associate	19593408, 27546520
COVID 19	Associate	33860882
Dwarfism	Associate	10782778, 21274317, 33060564
Dwarfism Pituitary	Associate	10782778, 18034778, 18297129, 19209235, 19965916, 20016047, 21274317, 21995288, 25541890, 27031974, 27501283, 27651465, 29412390, 29537382, 33060564 View all (4 more)
Endometrial Neoplasms	Associate	28032599
Endometriosis	Associate	18684444
Fibrosis	Associate	37584484
Gigantism	Associate	33060564
Growth Disorders	Associate	18034778, 21274317, 35315986
Growth Hormone Secreting Pituitary Adenoma	Associate	19029774
Hemochromatosis	Associate	18034778, 18297129, 19965916, 21274317, 25843330, 27031974, 27501283, 29412390, 33860882
Hyperandrogenism	Associate	30975191
Inflammation	Associate	37584484
Insulin Resistance	Associate	21995288
Isolated Growth Hormone Deficiency Type IB	Associate	25541890
Isolated Growth Hormone Deficiency Type II	Associate	33060564
Lipodystrophy	Associate	33060564
Neoplasms	Associate	10962031, 16299104, 17372203, 18506184, 19593408, 24479854, 29895126, 33060564, 39201517
Neoplasms Glandular and Epithelial	Associate	37584484
Neuroendocrine Tumors	Associate	18224665
Optic Nerve Hypoplasia	Associate	10782778
Ovarian Diseases	Associate	30975191
Pituitary Diseases	Associate	10782778, 18297129
Pituitary dwarfism 1	Associate	29537382
Pituitary Neoplasms	Associate	19029774
Pneumonia	Associate	37584484
Polycystic Ovary Syndrome	Associate	30975191
Poroma	Stimulate	24479854
Poroma	Associate	29895126
Pseudohypoparathyroidism	Associate	25843330
Retinoblastoma	Associate	27911838
Short Stature Idiopathic Autosomal	Associate	28768959
Small Cell Lung Carcinoma	Associate	10962031
Squamous Cell Carcinoma of Head and Neck	Associate	22441816
Voice Disorders	Associate	35315986

GHRHR (growth hormone releasing hormone receptor)