Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GHSR Gene

Aliases for GHSR Gene

  • Growth Hormone Secretagogue Receptor 2 3 5
  • GH-Releasing Peptide Receptor 3 4
  • Ghrelin Receptor 3 4
  • GHS-R 3 4
  • GHRP 3 4
  • GHDP 3

External Ids for GHSR Gene

Previous GeneCards Identifiers for GHSR Gene

  • GC03M169213
  • GC03M173120
  • GC03M173564
  • GC03M173483
  • GC03M173645
  • GC03M172162
  • GC03M169531

Summaries for GHSR Gene

Entrez Gene Summary for GHSR 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 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]

GeneCards Summary for GHSR Gene

GHSR (Growth Hormone Secretagogue Receptor) is a Protein Coding gene. Diseases associated with GHSR include growth hormone deficiency, isolated partial and short stature due to ghsr deficiency. Among its related pathways are Signaling by GPCR and cAMP signaling pathway. GO annotations related to this gene include G-protein coupled receptor activity and hormone binding. An important paralog of this gene is GPR39.

UniProtKB/Swiss-Prot for GHSR Gene

  • 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).

Tocris Summary for GHSR Gene

  • Ghrelin is the endogenous ligand for the ghrelin receptor, also known as the growth hormone secretagog receptor (GHS-R1a). Alternative splicing of preproghrelin yields two active peptides: ghrelin and des-Gln14-ghrelin, which differ by the deletion of one amino acid.

Gene Wiki entry for GHSR Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GHSR Gene

Genomics for GHSR Gene

Regulatory Elements for GHSR Gene

Genomic Location for GHSR Gene

Chromosome:
3
Start:
172,443,291 bp from pter
End:
172,448,456 bp from pter
Size:
5,166 bases
Orientation:
Minus strand

Genomic View for GHSR Gene

Genes around GHSR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GHSR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GHSR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GHSR Gene

Proteins for GHSR Gene

  • Protein details for GHSR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92847-GHSR_HUMAN
    Recommended name:
    Growth hormone secretagogue receptor type 1
    Protein Accession:
    Q92847
    Secondary Accessions:
    • Q14D12
    • Q6ISR8
    • Q92848
    • Q96RJ7

    Protein attributes for GHSR Gene

    Size:
    366 amino acids
    Molecular mass:
    41329 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GHSR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GHSR Gene

Proteomics data for GHSR Gene at MOPED

Post-translational modifications for GHSR Gene

  • Glycosylation at Asn 13 and Asn 27

Other Protein References for GHSR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GHSR Gene

Domains & Families for GHSR Gene

Gene Families for GHSR Gene

Protein Domains for GHSR Gene

Suggested Antigen Peptide Sequences for GHSR Gene

Graphical View of Domain Structure for InterPro Entry

Q92847

UniProtKB/Swiss-Prot:

GHSR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with GHSR: view

Function for GHSR Gene

Molecular function for GHSR Gene

UniProtKB/Swiss-Prot 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).
genes like me logo Genes that share phenotypes with GHSR: view

Human Phenotype Ontology for GHSR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GHSR Gene

MGI Knock Outs for GHSR:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for GHSR Gene

Localization for GHSR Gene

Subcellular locations from UniProtKB/Swiss-Prot for GHSR Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GHSR Gene COMPARTMENTS Subcellular localization image for GHSR gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for GHSR Gene

Pathways & Interactions for GHSR Gene

genes like me logo Genes that share pathways with GHSR: view

SIGNOR curated interactions for GHSR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GHSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway IEA,IDA 8688086
GO:0008343 adult feeding behavior ISS --
GO:0009755 hormone-mediated signaling pathway IDA 8688086
GO:0032094 response to food IEA --
GO:0032869 cellular response to insulin stimulus IEA --
genes like me logo Genes that share ontologies with GHSR: view

Drugs & Compounds for GHSR Gene

(37) Drugs for GHSR Gene - From: Novoseek, DGIdb, IUPHAR, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
TZP-101 Investigational Pharma agonist, Target 0
hexarelin Pharma Full agonist, Agonist 0
[<sup>125</sup>I][His<sup>9</sup>]ghrelin (human) Pharma Full agonist, Agonist 0
[<sup>125</sup>I][Tyr<sup>4</sup>]ghrelin (human) Pharma Full agonist, Agonist 0
[<sup>125</sup>I]Tyr-Ala-hexarelin Pharma Full agonist, Agonist 0

(18) Additional Compounds for GHSR Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
MK-0677
Full agonist, Agonist
[<sup>35</sup>S]MK-0677
Full agonist, Agonist
GSK161443
Antagonist
Ghrelin (human)
258279-04-8
Ghrelin (rat)
258338-12-4

(5) Tocris Compounds for GHSR Gene

Compound Action Cas Number
Ghrelin (human) Endogenous ghrelin receptor agonist 258279-04-8
Ghrelin (rat) Endogenous ghrelin receptor agonist 258338-12-4
L-692,585 Potent, non-peptide ghrelin receptor agonist 145455-35-2
MK 0677 High affinity ghrelin receptor agonist 159752-10-0
Tabimorelin hemifumarate Potent, orally active ghrelin receptor agonist 242143-80-2
genes like me logo Genes that share compounds with GHSR: view

Transcripts for GHSR Gene

mRNA/cDNA for GHSR Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GHSR Gene

Growth hormone secretagogue receptor:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GHSR Gene

No ASD Table

Relevant External Links for GHSR Gene

GeneLoc Exon Structure for
GHSR
ECgene alternative splicing isoforms for
GHSR

Expression for GHSR Gene

mRNA expression in normal human tissues for GHSR Gene

mRNA differential expression in normal tissues according to GTEx for GHSR Gene

This gene is overexpressed in Pituitary (x38.9) and Brain - Hypothalamus (x6.5).

Protein differential expression in normal tissues from HIPED for GHSR Gene

This gene is overexpressed in Frontal cortex (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GHSR Gene



SOURCE GeneReport for Unigene cluster for GHSR Gene Hs.130212

mRNA Expression by UniProt/SwissProt for GHSR Gene

Q92847-GHSR_HUMAN
Tissue specificity: Pituitary and hypothalamus.
genes like me logo Genes that share expression patterns with GHSR: view

Protein tissue co-expression partners for GHSR Gene

Primer Products

In Situ Assay Products

Orthologs for GHSR Gene

This gene was present in the common ancestor of animals.

Orthologs for GHSR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GHSR 35
  • 90.8 (n)
  • 94.54 (a)
GHSR 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GHSR 35
  • 89.11 (n)
  • 89.97 (a)
GHSR 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ghsr 35
  • 90.02 (n)
  • 95.88 (a)
Ghsr 16
Ghsr 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GHSR 35
  • 99.64 (n)
  • 100 (a)
GHSR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ghsr 35
  • 89.84 (n)
  • 96.15 (a)
oppossum
(Monodelphis domestica)
Mammalia GHSR 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 25 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GHSR 35
  • 77.68 (n)
  • 76.52 (a)
GHSR 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GHSR 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ghsr 35
  • 68.68 (n)
  • 74.71 (a)
zebrafish
(Danio rerio)
Actinopterygii ghsra 35
  • 70.28 (n)
  • 72.89 (a)
ghsra 36
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ETHR 35
  • 50.63 (n)
  • 38.49 (a)
capaR 36
  • 23 (a)
ManyToMany
CG8784 36
  • 18 (a)
ManyToMany
CG8795 36
  • 19 (a)
ManyToMany
Pk1r 36
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nmur-1 36
  • 23 (a)
ManyToMany
nmur-2 36
  • 23 (a)
ManyToMany
nmur-3 36
  • 20 (a)
ManyToMany
nmur-4 36
  • 24 (a)
ManyToMany
Species with no ortholog for GHSR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GHSR Gene

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

Paralogs for GHSR Gene

Paralogs for GHSR Gene

(18) SIMAP similar genes for GHSR Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for GHSR Gene

genes like me logo Genes that share paralogs with GHSR: view

Variants for GHSR Gene

Sequence variations from dbSNP and Humsavar for GHSR Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_032705 Growth hormone deficiency, isolated partial (GHDP)
rs2232165 - 172,448,354(-) CTGGA(C/T)TGGGA reference, synonymous-codon
VAR_073173 Growth hormone deficiency, isolated partial (GHDP)
rs495225 -- 172,448,243(-) GTGGG(A/C/G/T)ATCGC reference, synonymous-codon
rs509035 -- 172,445,659(+) TTACT(A/G)AGCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GHSR Gene

Variant ID Type Subtype PubMed ID
nsv7356 OTHER Inversion 18451855
nsv877987 CNV Loss 21882294
nsv829794 CNV Gain 17160897
nsv877988 CNV Loss 21882294

Variation tolerance for GHSR Gene

Residual Variation Intolerance Score: 43.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GHSR Gene

HapMap Linkage Disequilibrium report
GHSR
Human Gene Mutation Database (HGMD)
GHSR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GHSR Gene

Disorders for GHSR Gene

MalaCards: The human disease database

(12) MalaCards diseases for GHSR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
growth hormone deficiency, isolated partial
  • partial isolated growth hormone deficiency
short stature due to ghsr deficiency
  • ghrelin receptor deficiency
growth hormone insensitivity, partial
  • partial ighd
gastroparesis
  • gastric atonia
growth hormone deficiency
  • isolated somatotropin deficiency
- elite association - COSMIC cancer census association via MalaCards
Search GHSR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GHSR_HUMAN
  • Growth hormone deficiency, isolated partial (GHDP) [MIM:615925]: A disorder characterized by partial growth hormone deficiency resulting in growth delay and short stature, sometimes associated with recurrent episodes of abdominal pain, vomiting, ketosis and hypoglycemia. {ECO:0000269 PubMed:16511605, ECO:0000269 PubMed:19789204}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GHSR

Genetic Association Database (GAD)
GHSR
Human Genome Epidemiology (HuGE) Navigator
GHSR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GHSR
genes like me logo Genes that share disorders with GHSR: view

No data available for Genatlas for GHSR Gene

Publications for GHSR Gene

  1. A receptor in pituitary and hypothalamus that functions in growth hormone release. (PMID: 8688086) Howard A.D. … van der Ploeg L.H.T. (Science 1996) 2 3 4 67
  2. Ghrelin receptor expression in lymphocytes isolated from adult cystic fibrosis patients. (PMID: 19887765) Cohen R.I. … McCloskey T. (Respiration 2010) 3 23
  3. Contrasting association of a non-synonymous leptin receptor gene polymorphism with Wegener's granulomatosis and Churg-Strauss syndrome. (PMID: 20185531) Wieczorek S. … Epplen J.T. (Rheumatology (Oxford) 2010) 3 23
  4. Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity. (PMID: 20404923) Gjesing A.P. … Pedersen O. (PLoS ONE 2010) 3 23
  5. A genetic study of the ghrelin and growth hormone secretagogue receptor (GHSR) genes and stature. (PMID: 18945286) Gueorguiev M. … Korbonits M. (Ann. Hum. Genet. 2009) 3 23

Products for GHSR Gene

Sources for GHSR Gene

Back to Top

Content