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

    Gene ID: 2692, updated on 8-Apr-2018
    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; 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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    Location:
    7p14.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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-MINDY4 readthrough (NMD candidate) Neighboring gene MINDY lysine 48 deubiquitinase 4 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 ADCYAP receptor type I Neighboring gene small integral membrane protein 14 pseudogene

    • Project title: 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 Jun 15 11:32:44 2016

    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.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
    • GPCRs, Other, organism-specific biosystem (from WikiPathways)
      GPCRs, Other, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
    • 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
    G-protein coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    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
     
    cell surface receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to glucose stimulus 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 metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of circadian sleep/wake cycle, non-REM sleep IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    secretory granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    growth hormone-releasing hormone receptor
    Names
    GHRH receptor
    GRF receptor
    growth hormone releasing hormone receptor variant 1
    growth hormone releasing hormone receptor variant 2
    growth hormone releasing hormone receptor variant 3
    growth hormone releasing hormone receptor variant 4

    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/Swiss-Prot
      Q02643
      UniProtKB/TrEMBL
      A0A090N8Y6
      Related
      ENSP00000320180.2, OTTHUMP00000202460, ENST00000326139.6, 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 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      30964021..30979531
      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.
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