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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2693
Gene name Gene Name - the full gene name approved by the HGNC.	Growth hormone secretagogue receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GHSR
Synonyms (NCBI Gene) Gene synonyms aliases	GHDP, GHS-R1a, GHSR-1a
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q26.31
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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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

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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

Protein

UniProt ID

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

GHSR (growth hormone secretagogue receptor)