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

Summary

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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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

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.
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.
Constitutive signal bias mediated by the human GHRHR splice variant 1.
Title: Constitutive signal bias mediated by the human GHRHR splice variant 1.
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.
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.
Structural basis for activation of the growth hormone-releasing hormone receptor.
Title: Structural basis for activation of the growth hormone-releasing hormone receptor.
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.
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.
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.
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)

Phenotypes

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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	not available

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

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

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 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	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	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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
involved_in 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 insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in growth hormone secretion	IEA Inferred from Electronic Annotation more info
involved_in hormone metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lactation	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 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
involved_in positive regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular steroid hormone receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in 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 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 cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
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	TAS Traceable Author Statement more info
located_in 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: GHRH receptor; GRF 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

4933..20508

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

30963953..30979528

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

31101596..31117172

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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.