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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
  • Growth Hormone Secretagogue Receptor Type 1 3
  • 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 Growth Hormone Insensitivity, Partial. Among its related pathways are Peptide ligand-binding receptors and RET signaling. GO annotations related to this gene include G-protein coupled receptor activity and hormone binding. An important paralog of this gene is MLNR.

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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GHSR Gene

Genomics for GHSR Gene

Regulatory Elements for GHSR Gene

Enhancers for GHSR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G172590 1.6 Ensembl ENCODE dbSUPER 10.7 -145.4 -145392 6.4 HDGF PKNOX1 FOXA2 MLX WRNIP1 DMAP1 YY1 ZNF766 CBX5 ZNF143 TNFSF10 GHSR LINC02068
GH03G172625 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11 -178.2 -178165 2.4 HLF CEBPB ZNF384 CEBPG ATF2 FOXA1 IRF9 MAFF JUND ZNF316 NCEH1 GHSR SLC31A1P1 PIR41392
GH03G172606 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11 -159.4 -159399 1.9 JUN JUNB DPF2 ZFP69B PRDM6 ZNF692 IKZF1 FOS HNF4A PRDM10 TNFSF10 GHSR SLC31A1P1 PIR41392
GH03G172648 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.9 -200.2 -200245 1.4 ZNF687 ZNF10 CEBPB NR3C1 HIC1 POLR2A PRDM10 TCF7L2 GHSR NCEH1 PIR41392 SLC31A1P1
GH03G172622 1.2 Ensembl ENCODE dbSUPER 11 -174.9 -174944 1.7 CTCF PKNOX1 JUN SIN3A ZBTB40 RAD21 POLR2A SMC3 FOSL2 FOS NCEH1 GHSR SLC31A1P1 PIR41392
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GHSR on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for GHSR Gene

  • Glycosylation at Asn13 and isoforms=227

Other Protein References for GHSR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GHSR Gene

Domains & Families for GHSR Gene

Gene Families 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).

Gene Ontology (GO) - Molecular Function for GHSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001616 growth hormone secretagogue receptor activity IDA 8688086
GO:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IDA 8688086
GO:0016520 growth hormone-releasing hormone receptor activity IDA 8688086
GO:0017046 peptide hormone binding IEA --
genes like me logo Genes that share ontologies with GHSR: view
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

  • Taconic Biosciences Mouse Models for GHSR

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GHSR

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GHSR gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GHSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 8688086
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043005 neuron projection IDA 12890514
genes like me logo Genes that share ontologies with GHSR: view

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:0007165 signal transduction IEA --
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 IDA 15232612
genes like me logo Genes that share ontologies with GHSR: view

Drugs & Compounds for GHSR Gene

(51) Drugs for GHSR Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
TZP-101 Investigational Pharma agonist, Target 0
hexarelin Pharma Full agonist, Agonist 0
Anamorelin Pharma stimulator Ghrelin receptor agonist, synthetic, orally active 0
[D-Lys3]-GHRP-6 Pharma ghrelin receptor antagonist, Ghrelin receptor antagonist 0
Ghrelin (human) Pharma Endogenous ligand for the GHS receptor, Endogenous ghrelin receptor agonist 0

(13) 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
MK 0677
159752-10-0

(5) Tocris Compounds for GHSR Gene

Compound Action Cas Number
[D-Lys3]-GHRP-6 Ghrelin receptor antagonist 136054-22-3
Ghrelin (human) Endogenous ghrelin receptor agonist 258279-04-8
Ghrelin (rat) Endogenous ghrelin receptor agonist 258338-12-4
MK 0677 High affinity ghrelin receptor agonist 159752-10-0
YIL 781 Ghrelin receptor (GHS-R1a) antagonist 875258-85-8

(14) ApexBio Compounds for GHSR Gene

Compound Action Cas Number
[D-Arg1,D-Phe5,D-Trp7,9,Leu11]-Substance P 96736-12-8
[Des-octanoyl]-Ghrelin (human) 313951-59-6
[Des-octanoyl]-Ghrelin (rat) 307950-60-3
[D-Lys3]-GHRP-6 ghrelin receptor antagonist 136054-22-3
Anamorelin Ghrelin receptor agonist, synthetic, orally active 249921-19-5
Anamorelin Fumarate GHSR stimulator 339539-92-3
Anamorelin hydrochloride GHSR/ghrelin receptor agonist 861998-00-7
Cortistatin-8 485803-62-1
Ghrelin (human) Endogenous ligand for the GHS receptor 258279-04-8
Ghrelin (rat) 258338-12-4
Ibutamoren Mesylate Growth hormone (GH) secretagogue 159752-10-0
L-692,585 145455-35-2
Tabimorelin hemifumarate 242143-80-2
YIL 781 875258-85-8
genes like me logo Genes that share compounds with GHSR: view

Drug Products

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

Clone Products

  • Addgene plasmids for GHSR

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for GHSR Gene

NURSA nuclear receptor signaling pathways regulating expression of GHSR Gene:

GHSR

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.

Evidence on tissue expression from TISSUES for GHSR Gene

  • Nervous system(4.5)
  • Stomach(3.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with GHSR: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GHSR Gene

Orthologs for GHSR Gene

This gene was present in the common ancestor of animals.

Orthologs for GHSR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GHSR 34 35
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia GHSR 34 35
  • 90.8 (n)
mouse
(Mus musculus)
Mammalia Ghsr 34 16 35
  • 90.02 (n)
rat
(Rattus norvegicus)
Mammalia Ghsr 34
  • 89.84 (n)
dog
(Canis familiaris)
Mammalia GHSR 34 35
  • 89.11 (n)
oppossum
(Monodelphis domestica)
Mammalia GHSR 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 25 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GHSR 34 35
  • 77.68 (n)
lizard
(Anolis carolinensis)
Reptilia GHSR 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ghsr 34
  • 68.68 (n)
zebrafish
(Danio rerio)
Actinopterygii ghsra 34 35
  • 70.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta ETHR 34
  • 50.63 (n)
capaR 35
  • 23 (a)
ManyToMany
Pk1r 35
  • 23 (a)
ManyToMany
CG8795 35
  • 19 (a)
ManyToMany
CG8784 35
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nmur-4 35
  • 24 (a)
ManyToMany
nmur-1 35
  • 23 (a)
ManyToMany
nmur-2 35
  • 23 (a)
ManyToMany
nmur-3 35
  • 20 (a)
ManyToMany
Species where no ortholog for GHSR was found in the sources mined by GeneCards:
  • 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
rs121917883 Pathogenic, Growth hormone deficiency, isolated partial (GHDP) [MIM:615925] 172,447,803(-) GTTTG(A/C/T)GGTGC reference, missense
rs199588904 other, Growth hormone deficiency, isolated partial (GHDP) [MIM:615925] 172,447,705(+) CTTCC(A/T)GCCGA reference, missense
rs267606843 Pathogenic 172,448,408(-) ATGTG(A/G)AACGC reference, stop-gained
rs150657222 Likely benign 172,443,482(+) ATGAT(-/TATC)TTTCT utr-variant-3-prime
rs2232165 Likely benign 172,448,354(-) CTGGA(C/T)TGGGA reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv7356 OTHER inversion 18451855
nsv829794 CNV gain 17160897

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

Human Gene Mutation Database (HGMD)
GHSR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GHSR

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

Disorders for GHSR Gene

MalaCards: The human disease database

(9) 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
growth hormone insensitivity, partial
  • ghip
gastroparesis
  • gastric atonia
growth hormone deficiency
  • isolated somatotropin deficiency
functional gastric disease
- 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. 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 22 46 64
  2. Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor. (PMID: 19789204) Pantel J. … Amselem S. (J. Clin. Endocrinol. Metab. 2009) 3 4 22 64
  3. 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 22 46 64
  4. Polymorphisms of genes coding for ghrelin and its receptor in relation to anthropometry, circulating levels of IGF-I and IGFBP-3, and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition (EPIC). (PMID: 18375957) Dossus L. … Kaaks R. (Carcinogenesis 2008) 3 22 46 64
  5. Ghrelin receptor gene polymorphisms and body size in children and adults. (PMID: 18647811) Garcia E.A. … Korbonits M. (J. Clin. Endocrinol. Metab. 2008) 3 22 46 64

Products for GHSR Gene

  • Addgene plasmids for GHSR

Sources for GHSR Gene

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