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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GHSR Gene

protein-coding GIFtS: 61
GCID: GC03M172162

growth hormone secretagogue receptor

Explore 53 diseases affiliated with
GHSR via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Growth Hormone Secretagogue Receptor¹ ²
Ghrelin Receptor² ³
GHRP² ³
GHS-R² ³
GH-Releasing Peptide Receptor² ³
Growth Hormone Secretagogue Receptor Type 1²

External Ids:	HGNC: 4267¹	Entrez Gene: 2693²	Ensembl: ENSG00000121853⁷	OMIM: 601898⁵	UniProtKB: Q92847³

Export aliases for GHSR gene to outside databases

Previous GC identifers: GC03M169213 GC03M173120 GC03M173564 GC03M173483 GC03M173645 GC03M169531

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GHSR:

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 conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein;

this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release.

The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may

function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short

stature.(provided by RefSeq, Apr 2010)

UniProtKB/Swiss-Prot: GHSR_HUMAN, Q92847

Function: Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other

growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight

secretagogues (e.g. L-692,429, MK-0677, adenosine)

summary for GHSR:

Ghrelin is the endogenous ligand for the ghrelin receptor, also known as the growth hormone secretagog

receptor (GHS-R1a). Alternative splicing of the prepro-ghrelin yields two active peptides: ghrelin and

des-Gln14-ghrelin, which differ by the deletion of one amino acid residue. The predominant form, ghrelin, is

highly expressed in endocrine cells of the stomach, with low levels also found in the hypothalamus. The

G-protein-coupled ghrelin receptor is expressed in the pituitary, hypothalamus, hippocampus,

gastrointestinal tract and the vasculature including the aorta, coronary arteries, pulmonary arteries,

arcuate arteries, and saphenous veins. Ghrelin potently stimulates the release of growth hormone from the

anterior pituitary. Ghrelin is thought to act on ghrelin receptors present on pituitary somatotrophs and on

growth hormone-releasing hormone (GHRH) positive cells in the hypothalamus triggering GHRH release. The

peptide also acts as a potent vasodilator in vivo and in vitro. Ghrelin peptide was the first circulating

hormone shown to stimulate eating and weight gain. In humans circulating ghrelin levels are decreased in

acute states of positive energy balance and obesity, and are elevated during weight loss induced by

sustained fasting and anorexia nervosa. The development of ghrelin antagonists, or a means to inhibit

ghrelin release may be an important pharmaceutical goal for the management of obesity.

Gene Wiki entry for GHSR (Growth hormone secretagogue receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GHSR gene promoter:
PPAR-gamma1 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GHSR promoter sequence

Search SABiosciences Chromatin IP Primers for GHSR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GHSR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q26.31 Ensembl cytogenetic band: 3q26.31 HGNC cytogenetic band: 3q26.31

GHSR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GHSR gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M172162: view genomic region (about GC identifiers)

Start:	172,161,081 bp from pter	End:	172,166,246 bp from pter
Size:	5,166 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GHSR_HUMAN, Q92847 (See protein sequence)

Recommended Name: Growth hormone secretagogue receptor type 1

Size: 366 amino acids; 41329 Da

Subcellular location: Cell membrane; Multi-pass membrane protein

Secondary accessions: Q14D12 Q6ISR8 Q92848 Q96RJ7

Alternative splicing: 2 isoforms: Q92847-1 Q92847-2

Explore the universe of human proteins at neXtProt for GHSR: NX_Q92847

GHSR Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_004113.1 NP_940799.1

ENSEMBL proteins:

ENSP00000241256 ENSP00000395344

Reactome Protein details: Q92847
Human Recombinant Protein Products:

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	Uscn Proteins for GHSR

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0009986	cell surface	IDA	8688086
GO:0016021	integral to membrane	IEA	--
GO:0043005	neuron projection	IDA	12890514
GO:0045121	membrane raft	IDA	15232612

GHSR for ontologies About GeneDecksing

GHSR Antibody Products:

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	Uscn Antibodies for GHSR
	ThermoFisher Antibodies for GHSR

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	Uscn ELISAs and CLIAs for GHSR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GHSR for domains About GeneDecksing

3 InterPro domains/families:

IPR003905 GHS1_rcpt

IPR017452 GPCR_Rhodpsn_7TM

IPR000276 GPCR_Rhodpsn

Graphical View of Domain Structure for InterPro Entry Q92847

ProtoNet protein and cluster: Q92847

1 Blocks protein family: IPB003905 Growth hormone secretagogue receptor type 1 signature

UniProtKB/Swiss-Prot: GHSR_HUMAN, Q92847

Similarity: Belongs to the G-protein coupled receptor 1 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: GHSR_HUMAN, Q92847

Function: Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other

growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight

secretagogues (e.g. L-692,429, MK-0677, adenosine)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GHSR
		1 QIAGEN miScript miRNA Assays for microRNA that regulate GHSR:
		hsa-miR-150
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for GHSR

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GHSR

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001616	growth hormone secretagogue receptor activity	IDA	8688086
GO:0004930	G-protein coupled receptor activity	IDA	8688086
GO:0005515	protein binding	--	--
GO:0016520	growth hormone-releasing hormone receptor activity	IDA	8688086
GO:0017046	peptide hormone binding	IEA	--

GHSR for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for GHSR:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-outs for GHSR: Ghsr^tm1Mws Ghsr^tm1.1Lex Ghsr^tm1Lowl Ghsr^tm1Rgs
7 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Ghsr):

adipose tissue	behavior/neurological	digestive/alimentary	growth/size	homeostasis/metabolism
no phenotypic analysis	skeleton

GHSR for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Class A/1 (Rhodopsin-like receptors)

Class A/1 (Rhodopsin-like receptors)	1.00	GPCRs, Class A Rhodopsin-like	0.41
GPCR ligand binding	0.75	Neuroactive ligand-receptor interaction	0.38
Peptide ligand-binding receptors	0.61

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

G alpha (q) signalling events

G alpha (q) signalling events

1.00

Gastrin-CREB signalling pathway via PKC and MAPK

0.90

Selected targets of GCR-alpha

Selected targets of GCR-alpha

1.00

Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q

Peptide GPCRs

0.46

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for GHSR

Selected targets of GCR-alpha

2 BioSystems Pathways for GHSR

	GPCRs, Class A Rhodopsin-like
	Peptide GPCRs

5/8 Reactome Pathways for GHSR (see all 8)

	GPCR downstream signaling
	Peptide ligand-binding receptors
	Gastrin-CREB signalling pathway via PKC and MAPK
	Signaling by GPCR
	GPCR ligand binding

1 Kegg Pathway (Kegg details for GHSR):

Neuroactive ligand-receptor interaction

GHSR for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GHSR

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/125 Interacting proteins for GHSR (Q92847³ ENSP00000241256⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 125)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GHRL	Q9UBU3³, ENSP00000335074⁴	I2D: score=1 STRING: ENSP00000335074
ADRA1D	ENSP00000368766⁴	STRING: ENSP00000368766
AGTR1	ENSP00000273430⁴	STRING: ENSP00000273430
AVPR1A	ENSP00000299178⁴	STRING: ENSP00000299178
AVPR1B	ENSP00000356094⁴	STRING: ENSP00000356094

About this table

Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007186	G-protein coupled receptor signaling pathway	IDA	8688086
GO:0008154	actin polymerization or depolymerization	IDA	15232612
GO:0008343	adult feeding behavior	ISS	--
GO:0009725	response to hormone stimulus	IDA	15232612
GO:0009755	hormone-mediated signaling pathway	IDA	8688086

GHSR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GHSR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for GHSR

Compounds for GHSR available from Tocris Bioscience About this table

Compound	Action	CAS #
YIL 781	Ghrelin receptor (GHS-R1a) antagonist	[875258-85-8]
L-692,585	Potent, non-peptide ghrelin receptor agonist	[145455-35-2]
Tabimorelin hemifumarate	Potent, orally active ghrelin receptor agonist	[193079-69-5]

10/28 Novoseek chemical compound relationships for GHSR gene (see all 28) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ghrp	97	397	9053785 (13), 1592884 (12), 8496311 (12), 2026752 (10) (see all 52)
hexarelin	90.1	31	14669829 (3), 19931584 (2), 10790589 (2), 11227737 (2) (see all 16)
mk-0677	76.8	3	16213742 (1), 10427162 (1)
ipamorelin	76.5	1	19289567 (1)
vapreotide	71.6	2	11322499 (1), 11227737 (1)
acth	62.3	29	9768675 (3), 16832586 (2), 7617137 (2), 16551736 (2) (see all 14)
oxindole	57.6	2	15780607 (1), 18923064 (1)
hcrh	53.2	1	9253314 (1)
glucose	42	11	14973181 (1), 16625861 (1), 20180161 (1), 19275667 (1) (see all 8)
lanreotide	41.1	2	11322499 (1), 11227737 (1)

Search CenterWatch for drugs/clinical trials and news about GHSR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GHSR gene (2 alternative transcripts):

NM_004122.2 NM_198407.2

Unigene Cluster for GHSR:

Growth hormone secretagogue receptor

Hs.130212 [show with all ESTs]

Unigene Representative Sequence: NM_198407

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000241256(uc003fib.2) ENST00000427970(uc011bpv.2)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GHSR
		1 QIAGEN miScript miRNA Assays for microRNA that regulate GHSR:
		hsa-miR-150
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GHSR (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GHSR (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Additional cDNA sequence:

AY429112.1 BC069068.1 BC069374.1 BC113547.1 U60179.1 U60181.1

3 DOTS entries:

DT.91787832 DT.102822290 DT.202714

14 AceView cDNA sequences:

U60179 NM_198407 AY429112 BV198882 U60181 BC069068 NM_004122 BC069374

CD618068 CD618071 CD618077 CD618075 CD618066 CD618072

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GHSR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGTGGGTGT

About this image

GHSR expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Spinal Cord

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GHSR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GHSR

SOURCE GeneReport for Unigene cluster: Hs.130212

UniProtKB/Swiss-Prot: GHSR_HUMAN, Q92847

Tissue specificity: Pituitary and hypothalamus

SABiosciences Expression via Pathway-Focused PCR Arrays including GHSR:

G Protein Coupled Receptors 384HT in human mouse rat

Obesity in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GHSR

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for GHSR gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GHSR¹	growth hormone secretagogue receptor	77.68(n) 76.52(a)		378911 NM_204394.1 NP_989725.1
lizard (Anolis carolinensis)	Reptilia	GHSR⁶ --	--	73(a) 47(a)	1 ↔ 1 possible ortholog	3(6289864-6298332) GL343202.1(2257747-2260485)
zebrafish (Danio rerio)	Actinopterygii	ghsra¹	growth hormone secretagogue receptor a	70.28(n) 72.89(a)		795753 NM_001146272.1 NP_001139744.1
fruit fly (Drosophila melanogaster)	Insecta	Pk1r⁶ capaR⁶ (see all 4)	capa receptor (see all 4)	24(a) 21(a) (see all 4)	possible ortholog possible ortholog (see all 4)	3R(9925554-9928844) 3L(21552074-21555281)
worm (Caenorhabditis elegans)	Secernentea	nmur-2⁶ nmur-1⁶ (see all 3)	Protein NMUR-1 (see all 3)	22(a) 20(a) (see all 3)	possible ortholog possible ortholog (see all 3)	II(123339-125004) X(8980922-8985008)

ENSEMBL Gene Tree for GHSR (if available)
TreeFam Gene Tree for GHSR (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GHSR gene

NTSR1² GPR39² NMUR1² TRHR² MLNR² NMUR2² NTSR2²

17 SIMAP similar genes for GHSR using alignment to 2 protein entries: GHSR_HUMAN (see all proteins):

HTR2A CCKBR QRFPR CCR3 HCRTR1 CCRL2

CCR5 NMUR2 SSTR5 HTR4 ADRA2C CCR2

MLNR NTSR1 CCR7 NMUR1 OPRK1

GHSR for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for GHSR
PGOHUM00000243609

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121917883^1,2	C	pathogenic	213322043(-)	`GTTTGA/CGGTGC`	4	E A	mis¹		0	--	--	--	--
rs199588904^1,2	C	pathogenic	213322141(+)	`CTTCCT/AGCCGA`	4	/R /W	mis¹		1		EU	1283
rs28476722^1,2	F,	--	169531641(+)	`CTAATT/CATGAT`	1	--	ut3¹		1		WA	118
rs73039028^1,2	C,F,	--	169532069(+)	`TAGACA/CTTTAA`	1	--	ut3¹		4		WA CSA	124
rs79483527^1,2		--	169532280(+)	`TTTGTT/AAAGCC`	1	--	ut3¹		1		WA	118
rs9880206^1,2	C,F,H,	--	169532353(+)	`ACATGC/GAACTC`	1	--	ut3¹		7		EA NS NA WA	540
rs58550930^1,2	F,	--	169532581(+)	`AGTGGT/AAACCT`	1	--	ut3¹		2		WA NA	238
rs9880652^1,2	C,F,H,	--	169532585(+)	`GTAACC/GTCGAG`	1	--	ut3¹		10		NA EA NS WA	672
rs200649707^1,2	C	--	169532809(+)	`AGGGTG/TTCTGT`	1	--	ut3¹		0	--	--	--	--
rs150344113^1,2	C,F	--	169533406(+)	`CCAGGC/TCCGAG`	2	T A	mis¹		1		NA	4526

HapMap Linkage Disequilibrium report for GHSR (172161081 - 172166246 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for GHSR: --
Human Gene Mutation Database (HGMD): GHSR

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GHSR for disorders           About GeneDecksing

OMIM gene information: 601898
OMIM disorders: 604271
UniProtKB/Swiss-Prot: GHSR_HUMAN, Q92847

Defects in GHSR may be a cause of idiopathic short stature autosomal (ISSA) [MIM:604271]. Short stature is

defined by a subnormal rate of growth

20/53 diseases for GHSR (see all 53): About MalaCards

anorexia nervosa short stature growth hormone secreting pituitary adenoma growth hormone deficiency

obesity isolated growth hormone deficiency prader-willi syndrome pituitary adenoma

type 1 diabetes mellitus autism spectrum disorder wegener's granulomatosis gastrointestinal stromal tumor

bulimia nervosa gastroparesis cushing's syndrome neuroendocrine tumor

prolactinoma diabetes mellitus pituitary tumor alcohol dependence

10/27 Novoseek disease relationships for GHSR gene (see all 27) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
obesity	54.7	29	15616037 (5), 20404923 (5), 18945286 (2), 17229584 (1) (see all 13)
acromegaly	50.3	6	8126120 (3), 8370708 (2), 9467586 (1)
gastroparesis	48.7	4	16225494 (1), 19298585 (1), 18946177 (1)
short stature	48.6	10	16511605 (2), 16511600 (2), 17229584 (1), 19789204 (1) (see all 7)
prolactinoma	48	4	9709982 (1), 9467586 (1), 11422110 (1)
pituitary adenoma	44.3	21	11422110 (4), 14616888 (3), 9768675 (2), 9851770 (2) (see all 8)
pituitary tumors	40.1	6	9467586 (3), 9709982 (1), 9851770 (1), 9768675 (1)
effects cardiovascular	39.1	6	11294772 (1), 17324965 (1), 18667202 (1)
growth hormone deficiency	39.1	1	19789204 (1)
adenoma	32.4	34	10444306 (4), 9768675 (3), 14616888 (3), 8175966 (3) (see all 10)

Genetic Association Database (GAD): GHSR
Human Genome Epidemiology (HuGE) Navigator: GHSR (34 documents)

Export disorders for GHSR gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GHSR gene, integrated from 9 sources (see all 369):
(articles sorted by number of sources associating them with GHSR)

Utopia: connect your pdf to the dynamic
world of online information

A receptor in pituitary and hypothalamus that functions in growth hormone release. (PubMed id 8688086)^{1, 2, 3} Howard A.D.... van der Ploeg L.H.T. (1996)
Growth hormone secretagogue receptor family members and ligands. (PubMed id 11322507)^{1, 2, 9} Smith R.G.... Howard A.D. (2001)
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. (PubMed id 16511605)^{1, 2, 9} Pantel J.... Amselem S. (2006)
Association of ghrelin receptor gene polymorphism with bulimia nervosa in a Japanese population. (PubMed id 16362631)^{1, 4, 9} Miyasaka K....Funakoshi A. (2006)
Genomic structure and transcriptional regulation of the human growth hormone secretagogue receptor. (PubMed id 11356716)^{1, 2, 9} Petersenn S.... Schulte H.M. (2001)
Ghrelin receptor gene: identification of several sequence variants in extremely obese children and adolescents, healthy normal-weight and underweight students, and children with short normal stature. (PubMed id 14715843)^{1, 4, 9} Wang H.J....Hinney A. (2004)
Sequencing analysis of the ghrelin receptor (growth hormone secretagogue receptor type 1a) gene. (PubMed id 15080774)^{1, 4} Vartiainen J....Ukkola O. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Ghrelin is a growth-hormone-releasing acylated peptide from stomach. (PubMed id 10604470)^{1, 2} Kojima M.... Kangawa K. (1999)
Unacylated ghrelin is not a functional antagonist but a full agonist of the type 1a growth hormone secretagogue receptor (GHS-R). (PubMed id 17601657)^{1, 9} Gauna C....Delhanty P.J. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2693	HGNC: 4267	AceView: GHSR	Ensembl:ENSG00000121853	euGenes: HUgn2693
ECgene: GHSR	Kegg: 2693	H-InvDB: GHSR

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for GHSR	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GHSR gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GHSR gene:
Search GeneIP for patents involving GHSR

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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