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

Summary

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Official Symbol: GHRHRprovided by HGNC
Official Full Name: growth hormone releasing hormone receptorprovided by HGNC
Primary source: HGNC:4266
See related: Ensembl:ENSG00000106128; HPRD:00748; MIM:139191; Vega:OTTHUMG00000152801
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: GRFR; GHRFR; IGHD1B
Summary: 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]

Genomic context

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Location :: 7p14

Sequence :: Chromosome: 7; NC_000007.13 (31003636..31019146)

See GHRHR in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

The study established the GHRHR gene sequence variation map in isolated severe growth hormone deficiency patients and normal adult height.
Title: Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height.
bone quality and metabolism and its correlation with insulin sensitivity in subjects heterozygous for a null mutation in GHRHR
Title: The consequences of growth hormone-releasing hormone receptor haploinsufficiency for bone quality and insulin resistance.
GHRH-R and Hsp90 were found to be independent predictive factors of histopathological response to neoadjuvant RCT.
Title: Possible predictors of histopathological response to neoadjuvant chemoradiotherapy for rectal cancer.
study describes a new frame shift mutation in the coding sequence of exon 4 (corresponding to the extracellular domain of the receptor)(c.391delG) in the GHRHR in a family with isolated GH deficiency
Title: A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia.
This chapter reviews the biology of the GHRHR, the mutations that affect its gene and their effects in homozygous and heterozygous individuals.
Title: Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations.
The homozygous GHRHR mutation was rare, being detected in only one Japanese isolated GH deficiency family.
Title: Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature.
Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolism and breast cancer risk in the NCI breast and prostate cancer cohort consortium.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
The endometriotic stromal cells (ESCs) and transformed human ESCs, but not normal endometrial tissues, expressed GHRH-R mRNA.
Title: The growth hormone-releasing hormone (GHRH) antagonist JV-1-36 inhibits proliferation and survival of human ectopic endometriotic stromal cells (ESCs) and the T HESC cell line.
These results show, for the first time, the activation of the MAPKs cascade by the splic variant (SV1) receptor.
Title: Activation of mitogen-activated protein kinases by a splice variant of GHRH receptor.

Submit: New GeneRIF Correction See all (35)

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

Isolated growth hormone deficiency type 1B

MIM: 612781

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q02643	P01286	GHRH	HPRD	PubMed
Q02643	Q9UBU3	GHRL	HPRD	PubMed
Q02643	O43193	MLNR	HPRD	PubMed
BioGRID:108959	BioGRID:108958	GHRH	BioGRID	PubMed	Reconstituted Complex

Pathways from BioSystems

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Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
GPCR downstream signaling, organism-specific biosystem (from REACTOME)
GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
GPCR ligand binding, organism-specific biosystem (from REACTOME)
GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
GPCRs, Class B Secretin-like, organism-specific biosystem (from WikiPathways)
GPCRs, Class B Secretin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
GPCRs, Other, organism-specific biosystem (from WikiPathways)
GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
Glucagon-type ligand receptors, organism-specific biosystem (from REACTOME)
Glucagon-type ligand receptors, organism-specific biosystemThe glucagon hormone family regulates the activity of GPCRs from the secretin receptor subfamily in Class II/B (Mayo KE et al, 2003).
Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
Neuroactive ligand-receptor interaction, organism-specific biosystem
Neuroactive ligand-receptor interaction
Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
Neuroactive ligand-receptor interaction, conserved biosystem
Neuroactive ligand-receptor interaction
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by GPCR, organism-specific biosystem (from REACTOME)
Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

General gene information

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Markers

GHRHR (e-PCR), detects polymorphism
- UniSTS:29965

WI-7721 (e-PCR)
- UniSTS:38454

NoName (e-PCR)
- UniSTS:488046

G68168 (e-PCR)
- UniSTS:229493

G68169 (e-PCR)
- UniSTS:229494

G68170 (e-PCR)
- UniSTS:229495

G68171 (e-PCR)
- UniSTS:229496

G68172 (e-PCR)
- UniSTS:229497

G68173 (e-PCR)
- UniSTS:229498

G68174 (e-PCR)
- UniSTS:229499

G68166 (e-PCR)
- UniSTS:229500

G68167 (e-PCR)
- UniSTS:229501

GDB:6028546 (e-PCR)
- UniSTS:174

G68148 (e-PCR)
- UniSTS:225978

G68145 (e-PCR)
- UniSTS:225979

SHGC-35683 (e-PCR)
- UniSTS:53961

NoName (e-PCR)
- UniSTS:482291

Genotypes

See GHRHR SNP Geneview Report
See GHRHR SNP Genotype Report
See GHRHR SNP Variation Viewer Report

Homology

Homologs of the GHRHR gene: The GHRHR gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
G-protein coupled receptor activity	IC Inferred by Curator more info	PubMed
growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
growth hormone-releasing hormone receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
peptide hormone binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
activation of adenylate cyclase activity	IEA Inferred from Electronic Annotation more info
adenylate cyclase-activating G-protein coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
cAMP-mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
cell maturation	IEA Inferred from Electronic Annotation more info
cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
determination of adult lifespan	IEA Inferred from Electronic Annotation more info
growth hormone secretion	IEA Inferred from Electronic Annotation more info
hormone metabolic process	IEA Inferred from Electronic Annotation more info
lactation	IEA Inferred from Electronic Annotation more info
multicellular organismal reproductive process	NAS Non-traceable Author Statement more info	PubMed
positive regulation of cAMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of growth hormone secretion	NAS Non-traceable Author Statement more info	PubMed
positive regulation of insulin-like growth factor receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
positive regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of intracellular steroid hormone receptor signaling pathway	IEA Inferred from Electronic Annotation more info
regulation of protein metabolic process	IEA Inferred from Electronic Annotation more info
response to estrogen stimulus	IDA Inferred from Direct Assay more info	PubMed
response to glucocorticoid stimulus	IDA Inferred from Direct Assay more info	PubMed
response to insulin stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
somatotropin secreting cell development	IEA Inferred from Electronic Annotation more info
water homeostasis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cell surface	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IDA Inferred from Direct Assay more info	PubMed
nuclear inner membrane	IDA Inferred from Direct Assay more info	PubMed
nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
nuclear outer membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
secretory granule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: growth hormone-releasing hormone receptor

Names: growth hormone-releasing hormone receptor; GRF receptor; GHRH receptor

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.

Genomic

NG_021416.1 RefSeqGene

Range

5001..20511

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000823.3 → NP_000814.2 growth hormone-releasing hormone receptor precursor

Status: REVIEWED

Source sequence(s)

DB348314, L09237

Consensus CDS

CCDS5432.1

UniProtKB/Swiss-Prot

Q02643

Related

ENSP00000320180, OTTHUMP00000202460, ENST00000326139, OTTHUMT00000327967

Conserved Domains (2) summary

smart00008
Location:51 – 103
Blast Score: 168

HormR; Domain present in hormone receptors

pfam00002
Location:126 – 372
Blast Score: 708

7tm_2; 7 transmembrane receptor (Secretin family)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p10 Primary Assembly

Range

31003636..31019146

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

30885854..30901378

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

31053140..31068651

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018918.1 Alternate CHM1_1.0

Range

30981706..30997216

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001009824.1: Suppressed sequence

Description

NM_001009824.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AACC02000087.1	EAL24445.1
genomic	AB065701.1	BAC05924.1
genomic	ABBA01056814.1 (228176..243700)	None
genomic	AC005155.1	AAC23789.1
genomic	AMYH01017151.1 (518633..534143)	None
genomic	CH471073.1	EAW93973.1
		EAW93974.1
		EAW93975.1
		EAW93976.1
		EAW93977.1
genomic	U17579.1	AAB18630.1
		AAB18631.1
		AAB18632.1
genomic	U42225.1	AAB37758.1
mRNA	AB058895.1	BAB40232.1
mRNA	AF282259.1	AAG15368.1
mRNA	AF282260.1	AAG15369.1
mRNA	AF282261.1	AAG15370.1
mRNA	AF282262.1	AAG15371.1
mRNA	AV750179.1	None
mRNA	AY557192.1	AAS59864.1
mRNA	DB348314.1	None
mRNA	L01406.1	AAA35890.1
mRNA	L09237.1	AAA58619.1
mRNA	S79912.1	AAD14318.1
other-genetic	BC166636.1	AAI66636.1