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

Gene ID: 2692, updated on 3-May-2025
Official Symbol
GHRHRprovided by HGNC
Official Full Name
growth hormone releasing hormone receptorprovided by HGNC
Primary source
HGNC:HGNC:4266
See related
Ensembl:ENSG00000106128 MIM:139191; AllianceGenome:HGNC:4266
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; IGHD4; 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]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Try the new Transcript table
See GHRHR in Genome Data Viewer
Location:
7p14.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (30963953..30979528)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (31101596..31117172)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (31003568..31019143)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene INMT-MINDY4 readthrough (NMD candidate) Neighboring gene MINDY lysine 48 deubiquitinase 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30941843-30942646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30942647-30943449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30946833-30947332 Neighboring gene oxysterol binding protein like 9 pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30948457-30948956 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30961348-30961528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25820 Neighboring gene aquaporin 1 (Colton blood group) Neighboring gene ReSE screen-validated silencer GRCh37_chr7:31014486-31014664 Neighboring gene uncharacterized LOC105375222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18074 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:31024083-31024608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:31029507-31030287 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:31032726-31033925 Neighboring gene uncharacterized LOC105375221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31066433-31067036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31067037-31067640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31082296-31082796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31082797-31083297 Neighboring gene ADCYAP receptor type I Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:31109473-31109974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31117973-31118706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31141510-31142010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:31145675-31146470

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. Carakushansky M, et al. Eur J Endocrinol, 2003 Jan. PMID 12534354
  2. Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib. Salvatori R, et al. J Clin Endocrinol Metab, 2001 Jan. PMID 11232012
  3. Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site. Salvatori R, et al. Mol Endocrinol, 2002 Mar. PMID 11875102
  4. Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency. Soneda A, et al. Growth Horm IGF Res, 2013 Aug. PMID 23602557
  5. GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects. Marui S, et al. Horm Res Paediatr, 2012. PMID 23052699

See all (103) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
    Title: Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
  2. 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.
  3. Constitutive signal bias mediated by the human GHRHR splice variant 1.
    Title: Constitutive signal bias mediated by the human GHRHR splice variant 1.
  4. Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome.
    Title: Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome.
  5. Vestibular function in severe GH deficiency due to an inactivating mutation in the GH-releasing hormone receptor gene.
    Title: Vestibular function in severe GH deficiency due to an inactivating mutation in the GH-releasing hormone receptor gene.
  6. Structural basis for activation of the growth hormone-releasing hormone receptor.
    Title: Structural basis for activation of the growth hormone-releasing hormone receptor.
  7. Study investigated the signaling axis of GHRH-R and found evidence showing how GHRH-R is up-regulated after stimulation of LPS in human ciliary epithelial cells and the contribution of a noncanonical signaling axis of GHRH-R that involves JAK2 and STAT3 in acute ocular inflammation.
    Title: Signaling mechanisms of growth hormone-releasing hormone receptor in LPS-induced acute ocular inflammation.
  8. The finding that 8% of IGHD cases without GH1 mutations are explained by GHRHR molecular defects (including missense mutations), together with the high proportion of sporadic cases among those patients, has important implications for genetic counseling.
    Title: Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
  9. Our results demonstrate a direct action of LPS on ciliary and iris epithelial cells to produce pro-inflammatory factors through a GHRH-R mediated mechanism, and suggest a role of these epithelial cells, in addition to the resident antigen presenting cells, in immune surveillance of the eye. Infiltrating leukocytes may enhance these inflammatory responses by regulating GHRH-R in ciliary and iris epithelial cells, in additi
    Title: Growth hormone-releasing hormone receptor mediates cytokine production in ciliary and iris epithelial cells during LPS-induced ocular inflammation.
  10. Deletion at the GHRHR gene locus mediated by Alu specific microhomology is associated with isolated growth hormone deficiency.
    Title: Novel gross deletion at the GHRHR gene locus possibly mediated by Alu specific microhomology identified in a Sri Lankan patient with isolated growth hormone deficiency.
Submit: New GeneRIF Correction See all GeneRIFs (64)

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Isolated growth hormone deficiency, type 4
MedGen: C4722273 OMIM: 618157 GeneReviews: Not available
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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables G protein-coupled receptor activity IC
Inferred by Curator
more info
 PubMed 
enables G protein-coupled receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables growth factor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables growth factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables growth hormone-releasing hormone receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables growth hormone-releasing hormone receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables growth hormone-releasing hormone receptor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peptide hormone binding IEA
Inferred from Electronic Annotation
more info
  
enables peptide hormone binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within adenohypophysis development IEA
Inferred from Electronic Annotation
more info
  
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in cAMP/PKA signal transduction IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cell maturation IEA
Inferred from Electronic Annotation
more info
  
involved_in cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within determination of adult lifespan IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of growth hormone secretion IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within hormone metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of hormone secretion IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within lactation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within mammary gland development IEA
Inferred from Electronic Annotation
more info
  
involved_in multicellular organismal reproductive process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of circadian sleep/wake cycle, non-REM sleep IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within positive regulation of growth hormone secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of growth hormone secretion IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of growth hormone secretion NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within positive regulation of hormone secretion IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of insulin-like growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of intracellular steroid hormone receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of protein metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in response to estrogen IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to glucocorticoid IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to insulin IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within somatotropin secreting cell development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
  
located_in secretory granule IDA
Inferred from Direct Assay
more info
 PubMed 
Preferred Names
growth hormone-releasing hormone receptor
Names
GHRH receptor
GRF receptor

NEW Try the new Transcript table

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

  1. NG_021416.1 RefSeqGene

    Range
    4933..20508
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000823.4 → NP_000814.2  growth hormone-releasing hormone receptor precursor

    See identical proteins and their annotated locations for NP_000814.2

    Status: REVIEWED

    Source sequence(s)
    AC005155, L09237
    Consensus CDS
    CCDS5432.1
    UniProtKB/Swiss-Prot
    Q02643, Q99863
    UniProtKB/TrEMBL
    A0A090N8Y6, A0A1B0H7U2
    Related
    ENSP00000320180.2, ENST00000326139.7
    Conserved Domains (2) summary
    pfam00002
    Location:126 → 372
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:52 → 112
    HRM; Hormone receptor domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    30963953..30979528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    31101596..31117172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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 Accession Links
GenPept Link UniProtKB Link
Q02643.2 GenPept UniProtKB/Swiss-Prot:Q02643

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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