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Aliases for GHRHR Gene

Aliases for GHRHR Gene

  • Growth Hormone Releasing Hormone Receptor 2 3 5
  • GHRH Receptor 3 4
  • GRF Receptor 3 4
  • GRFR 3 4
  • Growth Hormone-Releasing Factor Receptor 4
  • IGHD1B 3
  • GHRFR 3

External Ids for GHRHR Gene

Previous GeneCards Identifiers for GHRHR Gene

  • GC07P030646
  • GC07P030745
  • GC07P030776
  • GC07P030970
  • GC07P030885

Summaries for GHRHR Gene

Entrez Gene Summary for GHRHR Gene

  • This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]

GeneCards Summary for GHRHR Gene

GHRHR (Growth Hormone Releasing Hormone Receptor) is a Protein Coding gene. Diseases associated with GHRHR include growth hormone deficiency, isolated, type ib and isolated growth hormone deficiency, type ib, ghrhr-related. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. GO annotations related to this gene include G-protein coupled receptor activity and peptide hormone binding. An important paralog of this gene is MGC57346-CRHR1.

UniProtKB/Swiss-Prot for GHRHR Gene

  • Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.

Gene Wiki entry for GHRHR Gene

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

Genomics for GHRHR Gene

Regulatory Elements for GHRHR Gene

Genomic Location for GHRHR Gene

Chromosome:
7
Start:
30,938,669 bp from pter
End:
30,993,254 bp from pter
Size:
54,586 bases
Orientation:
Plus strand

Genomic View for GHRHR Gene

Genes around GHRHR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GHRHR Gene

Proteins for GHRHR Gene

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

    Protein Symbol:
    Q02643-GHRHR_HUMAN
    Recommended name:
    Growth hormone-releasing hormone receptor
    Protein Accession:
    Q02643
    Secondary Accessions:
    • Q99863

    Protein attributes for GHRHR Gene

    Size:
    423 amino acids
    Molecular mass:
    47402 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GHRHR Gene

neXtProt entry for GHRHR Gene

Proteomics data for GHRHR Gene at MOPED

Post-translational modifications for GHRHR Gene

  • Glycosylation at Asn 50
  • Modification sites at PhosphoSitePlus

Other Protein References for GHRHR Gene

Antibody Products

No data available for DME Specific Peptides for GHRHR Gene

Domains & Families for GHRHR Gene

Gene Families for GHRHR Gene

Suggested Antigen Peptide Sequences for GHRHR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02643

UniProtKB/Swiss-Prot:

GHRHR_HUMAN :
  • Belongs to the G-protein coupled receptor 2 family.
Family:
  • Belongs to the G-protein coupled receptor 2 family.
genes like me logo Genes that share domains with GHRHR: view

Function for GHRHR Gene

Molecular function for GHRHR Gene

GENATLAS Biochemistry:
growth hormone releasing hormone receptor,G protein coupled receptor superfamily
UniProtKB/Swiss-Prot Function:
Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.
genes like me logo Genes that share phenotypes with GHRHR: view

Human Phenotype Ontology for GHRHR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GHRHR Gene

MGI Knock Outs for GHRHR:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

Localization for GHRHR Gene

Subcellular locations from UniProtKB/Swiss-Prot for GHRHR Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GHRHR Gene COMPARTMENTS Subcellular localization image for GHRHR gene
Compartment Confidence
plasma membrane 5
nucleus 4

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

Pathways & Interactions for GHRHR Gene

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

Pathways by source for GHRHR Gene

1 KEGG pathway for GHRHR Gene
1 Qiagen pathway for GHRHR Gene

Gene Ontology (GO) - Biological Process for GHRHR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA --
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway IEA,IDA 1333056
GO:0007595 lactation IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with GHRHR: view

No data available for SIGNOR curated interactions for GHRHR Gene

Drugs & Compounds for GHRHR Gene

(13) Drugs for GHRHR Gene - From: DGIdb, DrugBank, Novoseek, and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sermorelin Approved, Withdrawn Pharma binder, Target, agonist 0
Tesamorelin Approved, Investigational Pharma binder, Target 0
BIM28011 Pharma Full agonist, Agonist 0

(6) Additional Compounds for GHRHR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GHRHR: view

Transcripts for GHRHR Gene

mRNA/cDNA for GHRHR Gene

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17
SP1: - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: - - -
SP6: - - - - -
SP7: -

Relevant External Links for GHRHR Gene

GeneLoc Exon Structure for
GHRHR
ECgene alternative splicing isoforms for
GHRHR

Expression for GHRHR Gene

mRNA expression in normal human tissues for GHRHR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Pituitary (x52.0).

SOURCE GeneReport for Unigene cluster for GHRHR Gene Hs.767

mRNA Expression by UniProt/SwissProt for GHRHR Gene

Q02643-GHRHR_HUMAN
Tissue specificity: Pituitary gland.
genes like me logo Genes that share expression patterns with GHRHR: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for GHRHR Gene

Orthologs for GHRHR Gene

This gene was present in the common ancestor of chordates.

Orthologs for GHRHR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GHRHR 35
  • 85.33 (n)
  • 84.69 (a)
GHRHREC 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GHRHR 35
  • 87.55 (n)
  • 87.47 (a)
GHRHR 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ghrhr 35
  • 82.82 (n)
  • 81.56 (a)
Ghrhr 16
Ghrhr 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GHRHR 35
  • 99.13 (n)
  • 99.05 (a)
GHRHR 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ghrhr 35
  • 83.06 (n)
  • 82.03 (a)
oppossum
(Monodelphis domestica)
Mammalia GHRHR 36
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves GHRHR 35
  • 62.94 (n)
  • 62.29 (a)
GHRHR 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GHRHR 36
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ghrhrl 35
  • 60.96 (n)
  • 57.37 (a)
Species with no ortholog for GHRHR:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GHRHR Gene

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

Paralogs for GHRHR Gene

(14) SIMAP similar genes for GHRHR Gene using alignment to 5 proteins:

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

Variants for GHRHR Gene

Sequence variations from dbSNP and Humsavar for GHRHR Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs121918118 Growth hormone deficiency, isolated, 1B (IGHD1B) 30,971,183(+) AGCCC(A/T)CTTCG reference, missense
VAR_015797 Growth hormone deficiency, isolated, 1B (IGHD1B)
VAR_015798 Growth hormone deficiency, isolated, 1B (IGHD1B)
VAR_015799 Growth hormone deficiency, isolated, 1B (IGHD1B)
VAR_015800 Growth hormone deficiency, isolated, 1B (IGHD1B)

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

Variant ID Type Subtype PubMed ID
nsv436557 CNV Deletion 17901297
nsv527038 CNV Gain 19592680
nsv527586 CNV Loss 19592680

Variation tolerance for GHRHR Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.99; 68.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GHRHR Gene

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

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

Disorders for GHRHR Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
growth hormone deficiency, isolated, type ib
  • isolated growth hormone deficiency type 1b
isolated growth hormone deficiency, type ib, ghrhr-related
  • ighd1b
growth hormone deficiency
  • isolated somatotropin deficiency
dwarfism
isolated growth hormone deficiency
  • dwarfism, growth hormone deficiency
- elite association - COSMIC cancer census association via MalaCards
Search GHRHR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GHRHR_HUMAN
  • Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781]: An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. {ECO:0000269 PubMed:10084571, ECO:0000269 PubMed:11232012, ECO:0000269 PubMed:12534354}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GHRHR Gene

dwarfism with growth hormone deficiency

Relevant External Links for GHRHR

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

Publications for GHRHR Gene

  1. Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone. (PMID: 7680413) Gaylinn B.D. … Thorner M.O. (Mol. Endocrinol. 1993) 2 3 4 23 67
  2. Activation of mitogen-activated protein kinases by a splice variant of GHRH receptor. (PMID: 19897610) Barabutis N. … Varga J.L. (J. Mol. Endocrinol. 2010) 3 23
  3. Triple-negative breast cancers express receptors for growth hormone-releasing hormone (GHRH) and respond to GHRH antagonists with growth inhibition. (PMID: 18629632) KAPster F. … Buchholz S. (Breast Cancer Res. Treat. 2009) 3 23
  4. Genetic screening of a Dutch population with isolated GH deficiency (IGHD). (PMID: 18785993) de Graaff L.C. … Hokken-Koelega A.C. (Clin. Endocrinol. (Oxf) 2009) 3 23
  5. Extended haplotypes in the growth hormone releasing hormone receptor gene (GHRHR) are associated with normal variation in height. (PMID: 19209235) Johansson A. … Gyllensten U. (PLoS ONE 2009) 3 23

Products for GHRHR Gene

Sources for GHRHR Gene

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