GHRH growth hormone releasing hormone [Homo sapiens (human)] - Gene

Summary

Official Symbol: GHRHprovided by HGNC
Official Full Name: growth hormone releasing hormoneprovided by HGNC
Primary source: HGNC:HGNC:4265
See related: Ensembl:ENSG00000118702 MIM:139190; AllianceGenome:HGNC:4265
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GRF; INN; GHRF
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (37251086..37261814, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (38975156..38985884, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (35879489..35890217, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of Growth Hormone-Releasing Hormone and Its Receptor Splice Variants in Primary Human Endometrial Carcinomas: Novel Therapeutic Approaches.
Title: Expression of Growth Hormone-Releasing Hormone and Its Receptor Splice Variants in Primary Human Endometrial Carcinomas: Novel Therapeutic Approaches.
A comprehensive contribution of genetic variations of the insulin-like growth factor 1 signalling pathway to stroke susceptibility.
Title: A comprehensive contribution of genetic variations of the insulin-like growth factor 1 signalling pathway to stroke susceptibility.
Structural basis for activation of the growth hormone-releasing hormone receptor.
Title: Structural basis for activation of the growth hormone-releasing hormone receptor.
Study in Han Chinese population revealed that rs3755792 and rs7624906 variants at SST in smoking population and rs3755792 in drinking population presented significant association with hypertension incidence. rs6032470 at GHRH had a statistical association with ischemic stroke incidence in smoking population.
Title: Common variants at somatostatin are significantly associated with hypertension incidence in smoking and drinking populations.
GHRH expression was significantly increased in patients with temporal lobe epilepsy. Coimmunoprecipitation confirmed that GHRH interacted with GABAAalpha1 and GABAAbeta2 + 3. GHRH may play an important role in inhibiting seizures by activating GABAARs.
Title: Interactions between GHRH and GABAARs in the brains of patients with epilepsy and in animal models of epilepsy.
P53 can suppress inflammation in a plethora of human tissues. Growth Hormone - Releasing Hormone is a hypothalamic peptide with a great capacity to affect the complex networks of cellular regulation via GHRH - specific receptors. GHRH antagonistic and agonistic analogs have been developed for clinical applications
Title: P53, GHRH, inflammation and cancer.
c.57+1G>A mutation in the GHRH receptor gene is associated with severe and congenital isolated GH deficiency.
Title: Occurrence of neoplasms in individuals with congenital, severe GH deficiency from the Itabaianinha kindred.
GHRH and GHRH-R are expressed in human adipocytes and are negatively associated; GHRH at low doses may exert an anti-obesity effect by inhibiting HMSC differentiation in adipocytes and by increasing adipocyte lipolysis in an autocrine or paracrine pathway; these effects are mediated by GH and GH-R
Title: Growth hormone-releasing hormone is produced by adipocytes and regulates lipolysis through growth hormone receptor.
GHRH stimulates a ligand-independent activation of EGFR involving at least cAMP/PKA and Src family signaling pathways
Title: Growth hormone-releasing hormone induced transactivation of epidermal growth factor receptor in human triple-negative breast cancer cells.
GHRH analogs of the Miami series powerfully suppress tumor growth, but have only a weak endocrine GH inhibitory activity. The suppression of tumor growth could be induced in part by the downregulation of
Title: Synthesis and structure-activity studies on novel analogs of human growth hormone releasing hormone (GHRH) with enhanced inhibitory activities on tumor growth.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71427 (e-PCR)
- UniSTS:12605

RH71010 (e-PCR)
- UniSTS:30387

NoName (e-PCR)
- UniSTS:484032

NoName (e-PCR)
- UniSTS:480489

G66937 (e-PCR)
- UniSTS:167663

G66938 (e-PCR)
- UniSTS:167664

G66939 (e-PCR)
- UniSTS:167665

G66940 (e-PCR)
- UniSTS:167666

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables growth hormone-releasing hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth hormone-releasing hormone activity	IDA Inferred from Direct Assay more info	PubMed
enables growth hormone-releasing hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables growth hormone-releasing hormone receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables neuropeptide hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptide hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in adenohypophysis development	ISS Inferred from Sequence or Structural Similarity more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in growth hormone secretion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within growth hormone secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in positive regulation of circadian sleep/wake cycle, REM sleep	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of circadian sleep/wake cycle, REM sleep	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within positive regulation of growth hormone secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of growth hormone secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of growth hormone secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of growth hormone secretion	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of insulin-like growth factor receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within positive regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to food	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info
is_active_in perikaryon	IBA Inferred from Biological aspect of Ancestor more info
is_active_in terminal bouton	IBA Inferred from Biological aspect of Ancestor more info
located_in terminal bouton	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: somatoliberin

Names: growth hormone releasing factor; sermorelin; somatocrinin; somatorelin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.