Version: 8.0.0
Date: Tue Jan 28 2025
GHRH
Homo sapiensHGNC:4265
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

GHRH

Species
Homo sapiens
Symbol
GHRH
Name
growth hormone releasing hormone
Synonyms
  • GHRF
  • GRF
Biotype
protein coding gene
Automated Description
Enables growth hormone-releasing hormone activity and growth hormone-releasing hormone receptor binding activity. Involved in positive regulation of cell population proliferation. Acts upstream of or within several processes, including adenylate cyclase-activating G protein-coupled receptor signaling pathway; growth hormone secretion; and positive regulation of growth hormone secretion. Predicted to be located in extracellular region. Predicted to be active in extracellular space; perikaryon; and terminal bouton. Implicated in autoimmune polyendocrine syndrome type 1; endometrial cancer; ovarian cancer; and renal cell carcinoma. Biomarker of breast cancer; endometriosis (multiple); obstructive sleep apnea; and reproductive organ cancer (multiple).
RGD Description
This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11213
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          GHRH molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            GHRH role
            GHRH genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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