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

Gene ID: 2692, updated on 27-Jun-2015
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]
Orthologs
See GHRHR in Epigenomics, MapViewer
Location:
7p14
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105375222 Neighboring gene uncharacterized LOC105375221 Neighboring gene adenylate cyclase activating polypeptide 1 (pituitary) receptor type I

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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Products Interactant Other Gene Complex Source Pubs Description

Markers

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
GHRH receptor
GRF 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 RefSeqGene

    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 identical proteins and their annotated locations for NP_000814.2

    Status: REVIEWED

    Source sequence(s)
    DB348314, L09237
    Consensus CDS
    CCDS5432.1
    UniProtKB/TrEMBL
    A0A090N8Y6
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011515263.1XP_011513565.1  

    See identical proteins and their annotated locations for XP_011513565.1

    Related
    ENSP00000387113, OTTHUMP00000202499, ENST00000409904, OTTHUMT00000328062
    Conserved Domains (1) summary
    pfam00002
    Location:62308
    7tm_2; 7 transmembrane receptor (Secretin family)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    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.