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	2693
Gene name	Growth hormone secretagogue receptor
Gene symbol	GHSR
Synonyms (NCBI Gene)	GHDPGHS-R1aGHSR-1a
Chromosome	3
Chromosome location	3q26.31
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 conserve

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917883	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs267606843	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs762351324	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (40)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029715	hsa-miR-26b-5p	Microarray	19088304
MIRT044459	hsa-miR-320a	CLASH	23622248
MIRT532321	hsa-miR-561-3p	PAR-CLIP	22012620
MIRT532320	hsa-miR-889-3p	PAR-CLIP	22012620
MIRT532319	hsa-miR-488-3p	PAR-CLIP	22012620
MIRT532318	hsa-miR-510-3p	PAR-CLIP	22012620
MIRT532321	hsa-miR-561-3p	PAR-CLIP	22012620
MIRT532320	hsa-miR-889-3p	PAR-CLIP	22012620
MIRT532319	hsa-miR-488-3p	PAR-CLIP	22012620
MIRT532318	hsa-miR-510-3p	PAR-CLIP	22012620
MIRT1018519	hsa-miR-1178	CLIP-seq
MIRT1018520	hsa-miR-1197	CLIP-seq
MIRT1018521	hsa-miR-1226	CLIP-seq
MIRT1018522	hsa-miR-1228	CLIP-seq
MIRT1018523	hsa-miR-1270	CLIP-seq
MIRT1018524	hsa-miR-3065-3p	CLIP-seq
MIRT1018525	hsa-miR-342-3p	CLIP-seq
MIRT1018526	hsa-miR-3671	CLIP-seq
MIRT1018527	hsa-miR-4436a	CLIP-seq
MIRT1018528	hsa-miR-4531	CLIP-seq
MIRT1018529	hsa-miR-4687-5p	CLIP-seq
MIRT1018530	hsa-miR-4700-3p	CLIP-seq
MIRT1018531	hsa-miR-4733-3p	CLIP-seq
MIRT1018532	hsa-miR-4735-5p	CLIP-seq
MIRT1018533	hsa-miR-4762-5p	CLIP-seq
MIRT1018534	hsa-miR-518a-5p	CLIP-seq
MIRT1018535	hsa-miR-527	CLIP-seq
MIRT1018536	hsa-miR-556-3p	CLIP-seq
MIRT1018537	hsa-miR-570	CLIP-seq
MIRT1018538	hsa-miR-620	CLIP-seq
MIRT1018539	hsa-miR-634	CLIP-seq
MIRT1018540	hsa-miR-767-3p	CLIP-seq
MIRT2001636	hsa-miR-3646	CLIP-seq
MIRT2001637	hsa-miR-3908	CLIP-seq
MIRT2001638	hsa-miR-4328	CLIP-seq
MIRT2001639	hsa-miR-4476	CLIP-seq
MIRT2234707	hsa-miR-4303	CLIP-seq
MIRT2234708	hsa-miR-4427	CLIP-seq
MIRT1018527	hsa-miR-4436a	CLIP-seq
MIRT1018530	hsa-miR-4700-3p	CLIP-seq

Show/Hide all (84)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001616	Function	Growth hormone secretagogue receptor activity	IBA
GO:0001616	Function	Growth hormone secretagogue receptor activity	IDA	8688086
GO:0001616	Function	Growth hormone secretagogue receptor activity	IEA
GO:0002031	Process	G protein-coupled receptor internalization	IDA	10644702
GO:0004930	Function	G protein-coupled receptor activity	IDA	8688086
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	27129257, 29876881
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15232612
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	8688086
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007565	Process	Female pregnancy	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0008154	Process	Actin polymerization or depolymerization	IDA	15232612
GO:0008343	Process	Adult feeding behavior	IEA
GO:0008343	Process	Adult feeding behavior	ISS
GO:0009725	Process	Response to hormone	IDA	15232612
GO:0009755	Process	Hormone-mediated signaling pathway	IBA
GO:0009755	Process	Hormone-mediated signaling pathway	IDA	31911434
GO:0009755	Process	Hormone-mediated signaling pathway	IDA	8688086
GO:0009986	Component	Cell surface	IDA	8688086
GO:0010700	Process	Negative regulation of norepinephrine secretion	IEA
GO:0016020	Component	Membrane	IEA
GO:0016520	Function	Growth hormone-releasing hormone receptor activity	IDA	8688086
GO:0017046	Function	Peptide hormone binding	IEA
GO:0030072	Process	Peptide hormone secretion	IEA
GO:0030252	Process	Growth hormone secretion	IEA
GO:0030252	Process	Growth hormone secretion	TAS	16511605
GO:0032094	Process	Response to food	IEA
GO:0032099	Process	Negative regulation of appetite	IEA
GO:0032100	Process	Positive regulation of appetite	IEA
GO:0032100	Process	Positive regulation of appetite	ISS
GO:0032354	Process	Response to follicle-stimulating hormone	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IDA	15232612
GO:0032715	Process	Negative regulation of interleukin-6 production	IDA	15232612
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IDA	15232612
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0032870	Process	Cellular response to hormone stimulus	IEA
GO:0036321	Process	Ghrelin secretion	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IMP	16511605
GO:0042562	Function	Hormone binding	IEA
GO:0042802	Function	Identical protein binding	IPI	27129257, 29876881
GO:0043005	Component	Neuron projection	IDA	12890514
GO:0043134	Process	Regulation of hindgut contraction	IEA
GO:0043568	Process	Positive regulation of insulin-like growth factor receptor signaling pathway	IEA
GO:0045121	Component	Membrane raft	IDA	15232612
GO:0045923	Process	Positive regulation of fatty acid metabolic process	IEA
GO:0045927	Process	Positive regulation of growth	IEA
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046697	Process	Decidualization	IDA	17494105
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IDA	15232612
GO:0051963	Process	Regulation of synapse assembly	IEA
GO:0051969	Process	Regulation of transmission of nerve impulse	IEA
GO:0060123	Process	Regulation of growth hormone secretion	IEA
GO:0060259	Process	Regulation of feeding behavior	IEA
GO:0060416	Process	Response to growth hormone	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0090327	Process	Negative regulation of locomotion involved in locomotory behavior	IEA
GO:0097060	Component	Synaptic membrane	IEA
GO:0097067	Process	Cellular response to thyroid hormone stimulus	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:0120058	Process	Positive regulation of small intestinal transit	IEA
GO:1902065	Process	Response to L-glutamate	IEA
GO:1903672	Process	Positive regulation of sprouting angiogenesis	IEA
GO:1904000	Process	Positive regulation of eating behavior	IEA
GO:1904349	Process	Positive regulation of small intestine smooth muscle contraction	IEA
GO:1905333	Process	Regulation of gastric motility	IEA
GO:1905564	Process	Positive regulation of vascular endothelial cell proliferation	IEA
GO:1990314	Process	Cellular response to insulin-like growth factor stimulus	IEA
GO:2000110	Process	Negative regulation of macrophage apoptotic process	IEA

MIM	HGNC	e!Ensembl
601898	4267	ENSG00000121853

Q92847

Protein name

Growth hormone secretagogue receptor type 1 (GHS-R) (GH-releasing peptide receptor) (GHRP) (Ghrelin receptor)

Protein function

Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Also binds other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g

PDB

6KO5 , 7F9Y , 7F9Z , 7NA7 , 7NA8 , 7W2Z , 8JSR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	60 → 323	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Pituitary and hypothalamus.

Sequence

MWNATPSEEPGFNLTLADLDWDASPGNDSLGDELLQLFPAPLLAGVTATCVALFVVGIAG
NLLTMLVVSRFRELRTTTNLYLSSMAFSDLLIFLCMPLDLVRLWQYRPWNFGDLLCKLFQ
FVSESCTYATVLTITALSVERYFAICFPLRAKVVVTKGRVKLVIFVIWAVAFCSAGPIFV
LVGVEHENGTDPWDTNECRPTEFAVRSGLLTVMVWVSSIFFFLPVFCLTVLYSLIGRKLW
RRRRGDAVVGASLRDQNHKQTVKMLAVVVFAFILCWLPFHVGRYLFSKSFEPGSLEIAQI
SQYCNLVSFVLFYLSAAINPILYNIMSKKYRVAVFRLLGFEPFSQRKLSTLKDESSRAWT
ESSINT

Sequence length

366

Interactions

View interactions

	KEGG		Reactome
	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling Growth hormone synthesis, secretion and action		G alpha (q) signalling events

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Short stature due to growth hormone secretagogue receptor deficiency	Likely pathogenic; Pathogenic	rs1043529281, rs267606843	RCV001824197 RCV000008072

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
GHSR-related disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs150344113, rs137953416, rs1737532838, rs1320610166	RCV003918862 RCV003903458 RCV003397407 RCV003412164
Short stature	Uncertain significance	rs199588904	RCV005627241
Short stature due to partial GHR deficiency	Likely benign; Uncertain significance; Benign	rs150657222, rs754352155, rs146582211, rs5854471	RCV000339492 RCV000280899 RCV000322104 RCV000397207

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholism	Associate	31578828
Astrocytoma	Associate	16527811
Breast Neoplasms	Associate	18091988, 25557172, 35763463
Cachexia	Associate	15232612
Carcinogenesis	Associate	29262839, 31750884
Carcinoma Ductal Breast	Associate	18091988
Colorectal Neoplasms	Associate	20920174
Death	Associate	31974445
Depressive Disorder	Associate	31578828
Diabetes Mellitus Type 2	Associate	18698404
Digestive System Neoplasms	Associate	18064392
Dwarfism Pituitary	Stimulate	36714562
Endometrial Neoplasms	Associate	21761369
Glucose Intolerance	Associate	18698404, 22411573
Hypertrophy Left Ventricular	Associate	15616037
Inflammation	Associate	31038565
Insulin Resistance	Associate	19165163
Metabolic Syndrome	Associate	15616037
Neoplasm Metastasis	Associate	18064392
Neoplasms	Associate	16527811, 18064392, 25557172, 35123558
Neurofibroma	Associate	29262839
Obesity	Associate	15616037, 18647811, 18698404, 19165163, 20404923
Oropharyngeal Neoplasms	Associate	31974445
Pancreatic Neoplasms	Associate	25557172
Parkinson Disease	Associate	33260513
Pediatric acute onset neuropsychiatric syndrome	Associate	30458022
Periodontitis	Associate	31038565
Precancerous Conditions	Associate	31750884
Prostatic stromal proliferation of uncertain malignant potential	Associate	31750884
Pseudohypoparathyroidism	Associate	40251565
Retinal Dysplasia	Associate	31750884
Squamous Cell Carcinoma of Head and Neck	Associate	31974445
Stomach Neoplasms	Associate	21274374
Thyroiditis	Associate	12547722
Urinary Bladder Neoplasms	Associate	35123558
Uterine Cervical Dysplasia	Stimulate	33846517
Weight Gain	Associate	18064392
Weight Loss	Associate	18064392, 18698404, 22411573

GHSR (growth hormone secretagogue receptor)