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

Gene ID: 2692, updated on 27-Sep-2014
Official Symbol
GHRHRprovided by HGNC
Official Full Name
growth hormone releasing hormone receptorprovided by HGNC
Primary source
HGNC: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]
See GHRHR in Epigenomics, MapViewer
Location:
7p14
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (30964021..30979531)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (31003636..31019146)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene INMT-FAM188B readthrough (NMD candidate) Neighboring gene family with sequence similarity 188, member B Neighboring gene oxysterol binding protein-like 9 pseudogene 6 Neighboring gene aquaporin 1 (Colton blood group) Neighboring gene adenylate cyclase activating polypeptide 1 (pituitary) receptor type I Neighboring gene uncharacterized LOC101928310

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 IDA
Inferred from Direct Assay
more info
PubMed 
response to glucocorticoid IDA
Inferred from Direct Assay
more info
PubMed 
response to insulin 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 component of 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 
Preferred Names
growth hormone-releasing hormone receptor
Names
growth hormone-releasing hormone receptor
GRF receptor
GHRH receptor

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 

    Range
    5001..20511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_000814.2

    Status: REVIEWED

    Source sequence(s)
    DB348314, L09237
    Consensus CDS
    CCDS5432.1
    UniProtKB/Swiss-Prot
    Q02643
    Related
    ENSP00000320180, OTTHUMP00000202460, ENST00000326139, OTTHUMT00000327967
    Conserved Domains (2) summary
    pfam00002
    Location:126372
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02793
    Location:52112
    HRM; Hormone receptor domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    30964021..30979531
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    30885854..30901378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    31003564..31019092
    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.