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GHSR Gene

protein-coding   GIFtS: 65
GCID: GC03M172162

Growth Hormone Secretagogue Receptor

  See GHSR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Growth Hormone Secretagogue Receptor1 2
Ghrelin Receptor2 3
GHRP2 3
GHS-R2 3
GH-Releasing Peptide Receptor2 3
Growth Hormone Secretagogue Receptor Type 12

External Ids:    HGNC: 42671   Entrez Gene: 26932   Ensembl: ENSG000001218537   OMIM: 6018985   UniProtKB: Q928473   

Export aliases for GHSR gene to outside databases

Previous GC identifers: GC03M169213 GC03M173120 GC03M173564 GC03M173483 GC03M173645 GC03M169531


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GHSR Gene:
This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy
homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues
and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the
functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for
growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for
Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with
autosomal idiopathic short stature.(provided by RefSeq, Apr 2010)

GeneCards Summary for GHSR Gene:
GHSR (growth hormone secretagogue receptor) is a protein-coding gene. Diseases associated with GHSR include short stature, and partial isolated growth hormone deficiency. GO annotations related to this gene include growth hormone-releasing hormone receptor activity and G-protein coupled receptor activity. An important paralog of this gene is NTSR1.

UniProtKB/Swiss-Prot: GHSR_HUMAN, Q92847
Function: Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also
other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low
molecular weight secretagogues (e.g. L-692,429, MK-0677, adenosine)

summary for GHSR Gene:
Ghrelin is the endogenous ligand for the ghrelin receptor, also known as the growth hormone secretagog
receptor (GHS-R1a). Alternative splicing of the prepro-ghrelin yields two active peptides: ghrelin and
des-Gln14-ghrelin, which differ by the deletion of one amino acid residue. The predominant form, ghrelin, is
highly expressed in endocrine cells of the stomach, with low levels also found in the hypothalamus. The
G-protein-coupled ghrelin receptor is expressed in the pituitary, hypothalamus, hippocampus,
gastrointestinal tract and the vasculature including the aorta, coronary arteries, pulmonary arteries,
arcuate arteries, and saphenous veins. Ghrelin potently stimulates the release of growth hormone from the
anterior pituitary. Ghrelin is thought to act on ghrelin receptors present on pituitary somatotrophs and on
growth hormone-releasing hormone (GHRH) positive cells in the hypothalamus triggering GHRH release. The
peptide also acts as a potent vasodilator in vivo and in vitro. Ghrelin peptide was the first circulating
hormone shown to stimulate eating and weight gain. In humans circulating ghrelin levels are decreased in
acute states of positive energy balance and obesity, and are elevated during weight loss induced by
sustained fasting and anorexia nervosa. The development of ghrelin antagonists, or a means to inhibit
ghrelin release may be an important pharmaceutical goal for the management of obesity.

Gene Wiki entry for GHSR (Growth hormone secretagogue receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the GHSR gene promoter:
         PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGHSR promoter sequence
   Search Chromatin IP Primers for GHSR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GHSR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q26.31   Ensembl cytogenetic band:  3q26.31   HGNC cytogenetic band: 3q26.31

GHSR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GHSR gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M172162:  view genomic region     (about GC identifiers)

Start:
172,161,081 bp from pter      End:
172,166,246 bp from pter
Size:
5,166 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GHSR_HUMAN, Q92847 (See protein sequence)
Recommended Name: Growth hormone secretagogue receptor type 1  
Size: 366 amino acids; 41329 Da
Secondary accessions: Q14D12 Q6ISR8 Q92848 Q96RJ7
Alternative splicing: 2 isoforms:  Q92847-1   Q92847-2   

Explore the universe of human proteins at neXtProt for GHSR: NX_Q92847

Post-translational modifications: 

  • Glycosylation2 at Asn13, Asn27
  • REFSEQ proteins (2 alternative transcripts): 
    NP_004113.1  NP_940799.1  

    ENSEMBL proteins: 
     ENSP00000241256   ENSP00000395344  
    Reactome Protein details: Q92847

    GHSR Human Recombinant Protein Products:

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    antibodies-online peptides for GHSR

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    antibodies-online kits for GHSR (11 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    GHSR: GPCR / Class A : Ghrelin receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: ghrelin receptor
    Ghrelin receptor

    3 InterPro protein domains:
     IPR003905 GHS-R
     IPR017452 GPCR_Rhodpsn_7TM
     IPR000276 GPCR_Rhodpsn

    Graphical View of Domain Structure for InterPro Entry Q92847

    ProtoNet protein and cluster: Q92847

    1 Blocks protein domain: IPB003905 Growth hormone secretagogue receptor type 1 signature

    UniProtKB/Swiss-Prot: GHSR_HUMAN, Q92847
    Similarity: Belongs to the G-protein coupled receptor 1 family


    Find genes that share domains with GHSR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GHSR_HUMAN, Q92847
    Function: Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also
    other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low
    molecular weight secretagogues (e.g. L-692,429, MK-0677, adenosine)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001616growth hormone secretagogue receptor activity IDA8688086
    GO:0004930G-protein coupled receptor activity IDA8688086
    GO:0005515protein binding ----
    GO:0016520growth hormone-releasing hormone receptor activity IDA8688086
    GO:0017046peptide hormone binding IEA--
         
    Find genes that share ontologies with GHSR           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GHSR:
     Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Ghsr):
     adipose tissue  behavior/neurological  digestive/alimentary  growth/size/body  homeostasis/metabolism 
     no phenotypic analysis  skeleton 

    Find genes that share phenotypes with GHSR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GHSR: Ghsrtm1Mws Ghsrtm1Rgs Ghsrtm1.1Lex Ghsrtm1Lowl

       genOway: Develop your customized and physiologically relevant rodent model for GHSR

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    1 qRT-PCR Assays for microRNA that regulate GHSR:
    hsa-miR-150
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GHSR_HUMAN, Q92847: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus2
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0009986cell surface IDA8688086
    GO:0016021integral component of membrane IEA--
    GO:0043005neuron projection IDA12890514
    GO:0045121membrane raft IDA15232612

    Find genes that share ontologies with GHSR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GHSR About    
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    GPCRs, Class A Rhodopsin-like0.43
    GPCR ligand binding0.71
    Neuroactive ligand-receptor interaction0.36
    Peptide ligand-binding receptors0.60
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    4Neuropeptides signaling through G protein alpha i and G protein alpha q
    Peptide GPCRs0.46
    5Selected targets of GCR alpha
    Selected targets of GCR alpha


    Find genes that share SuperPaths with GHSR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for GHSR
        GPCRs, Class A Rhodopsin-like
    Peptide GPCRs

    2 Reactome Pathways for GHSR
        Peptide ligand-binding receptors
    G alpha (q) signalling events


    1 Kegg Pathway  (Kegg details for GHSR):
        Neuroactive ligand-receptor interaction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GHSR: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Obesity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GHSR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GHSR (Q928473 ENSP000002412564) via UniProtKB, MINT, STRING, and/or I2D (see all 126)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GHRLQ9UBU33, ENSP000003350744I2D: score=1 STRING: ENSP00000335074
    ADRA1DENSP000003687664STRING: ENSP00000368766
    AGTR1ENSP000002734304STRING: ENSP00000273430
    AVPR1AENSP000002991784STRING: ENSP00000299178
    AVPR1BENSP000003560944STRING: ENSP00000356094
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007186G-protein coupled receptor signaling pathway IDA8688086
    GO:0008154actin polymerization or depolymerization IDA15232612
    GO:0008343adult feeding behavior ISS--
    GO:0009725response to hormone IDA15232612
    GO:0009755hormone-mediated signaling pathway IDA8688086

    Find genes that share ontologies with GHSR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for GHSR
      Browse compounds at ApexBio 

    Compounds for GHSR available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ghrelin (rat)Endogenous ghrelin receptor agonist[258338-12-4]
    [D-Lys3]-GHRP-6Ghrelin receptor antagonist[136054-22-3]
    YIL 781Ghrelin receptor (GHS-R1a) antagonist[875258-85-8]
    Ghrelin (human)Endogenous ghrelin receptor agonist[258279-04-8]
    Tabimorelin hemifumarate Potent, orally active ghrelin receptor agonist [193079-69-5]

    Selected IUPHAR Ligands for GHSR (ghrelin receptor) (see all 17)    About this table
    LigandTypeActionAffinityPubmed IDs
    MK-0677
    AgonistFull agonist8.62 - 9.7210427162 15905359
    SM-130,686
    AgonistPartial agonist9.5118923064
    [125I][His9]ghrelin (human)
    AgonistFull agonist9.411522606
    [125I][Tyr4]ghrelin (human)
    AgonistFull agonist9.411314756
    [35S]MK-0677
    AgonistFull agonist9.29092793
    GHRP-6
    AgonistFull agonist9.0815905359
    wFw-Isn-NH2
    AgonistPartial agonist5.92 - 8.4121402696
    GSK161443
    AntagonistAntagonist8.420593439
    JMV3008
    AntagonistAntagonist8.2517927165
    [125I]Tyr-Ala-hexarelin
    AgonistFull agonist8.211061542

    Selected Novoseek inferred chemical compound relationships for GHSR gene (see all 28)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ghrp 97 397 9053785 (13), 1592884 (12), 8496311 (12), 2026752 (10) (see all 52)
    hexarelin 90.1 31 14669829 (3), 19931584 (2), 10790589 (2), 11227737 (2) (see all 16)
    mk-0677 76.8 3 16213742 (1), 10427162 (1)
    ipamorelin 76.5 1 19289567 (1)
    vapreotide 71.6 2 11322499 (1), 11227737 (1)
    acth 62.3 29 9768675 (3), 16832586 (2), 7617137 (2), 16551736 (2) (see all 14)
    oxindole 57.6 2 15780607 (1), 18923064 (1)
    hcrh 53.2 1 9253314 (1)
    glucose 42 11 14973181 (1), 16625861 (1), 20180161 (1), 19275667 (1) (see all 8)
    lanreotide 41.1 2 11322499 (1), 11227737 (1)



    Find genes that share compounds with GHSR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GHSR gene (2 alternative transcripts): 
    NM_004122.2  NM_198407.2  

    Unigene Cluster for GHSR:

    Growth hormone secretagogue receptor
    Hs.130212  [show with all ESTs]
    Unigene Representative Sequence: NM_198407
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000241256(uc003fib.2) ENST00000427970(uc011bpv.2)
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    Additional mRNA sequence: 

    AY429112.1 BC069068.1 BC069374.1 BC113547.1 U60179.1 U60181.1 

    3 DOTS entries:

    DT.91787832  DT.102822290  DT.202714 

    14 AceView cDNA sequences:

    AY429112 U60179 NM_198407 BC069068 U60181 BC069374 BV198882 NM_004122 
    CD618077 CD618071 CD618068 CD618075 CD618066 CD618072 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GHSR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTGGGTGT
    GHSR Expression
    About this image


    GHSR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Midbrain   
     
     Neural Tube (Nervous System)
             Spinal Ventral Columns
    GHSR Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.130212

    UniProtKB/Swiss-Prot: GHSR_HUMAN, Q92847
    Tissue specificity: Pituitary and hypothalamus

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GHSR: 
              G Protein Coupled Receptors 384HT in human mouse rat
              Obesity in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GHSR gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ghsr1 , 5 growth hormone secretagogue receptor1, 5 90.02(n)1
    95.88(a)1
      3 (10.86 cM)5
    2081881  NM_177330.41  NP_796304.11 
     273713515 
    chicken
    (Gallus gallus)
    Aves GHSR1 growth hormone secretagogue receptor 77.68(n)
    76.52(a)
      378911  NM_204394.1  NP_989725.1 
    lizard
    (Anolis carolinensis)
    Reptilia GHSR6
    Uncharacterized protein
    73(a)
    1 ↔ 1
    3(6289864-6298332)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ghsr1 growth hormone secretagogue receptor 68.68(n)
    74.71(a)
      100497774  XM_002931572.2  XP_002931618.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ghsra1 growth hormone secretagogue receptor a 70.28(n)
    72.89(a)
      795753  NM_001146272.1  NP_001139744.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ETHR1 ETHR 50.63(n)
    38.49(a)
      42523  NM_206533.1  NP_996255.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nmur-46
    nmur-26
    (see all 4)
    Protein NMUR-2 (nmur-2) mRNA, complete cds
    (see all 4)
    24(a)
    23(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    I(6989067-6992106) WBGene00016265
    II(123339-125004) WBGene00019616


    ENSEMBL Gene Tree for GHSR (if available)
    TreeFam Gene Tree for GHSR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GHSR gene
    NTSR12  GPR392  NMUR12  MLNR2  NMUR22  TRHR2  NTSR22  
    18 SIMAP similar genes for GHSR using alignment to 2 protein entries:     GHSR_HUMAN (see all proteins):
    HTR2A    CCKBR    QRFPR    HCRTR1    CCRL2    KISS1R
    CCR5    NMUR2    SSTR5    HTR4    ADRA2C    MLNR
    NTSR1    CCR2    OPRM1    CCR7    NMUR1    OPRK1

    Find genes that share paralogs with GHSR           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GHSR
    PGOHUM00000243609


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GHSR (see all 262)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0327054
    Short stature, idiopathic, autosomal (ISSA)4--see VAR_0327052 A E mis40--------
    rs1995889041,2
    Cpathogenic1172028149(+) CTTCCT/AGCCGA 4 /R /W mis11Minor allele frequency- A:0.00EU 1283
    rs1219178831,2
    Cpathogenic1172028247(-) GTTTGA/CGGTGC 4 E A mis10--------
    rs1496016901,2
    C--172023253(+) AAACAA/GTACTC 1 -- ds50010--------
    rs1443348451,2
    --172023478(+) CTAGAC/TATAAA 1 -- ds50010--------
    rs785868051,2
    C,F--172023486(+) AAACCC/AAGAAG 1 -- ds50011Minor allele frequency- A:0.03EA 120
    rs1487807441,2
    C--172023540(+) CCAAAA/GCAATC 1 -- ds50010--------
    rs1810370851,2
    --172023562(+) GGAGGC/TCAAGG 1 -- ds50010--------
    rs1424477811,2
    C--172023634(+) GAAGCC/TGAACT 1 -- ds50010--------
    rs1862753891,2
    C--172023660(+) ATTGGA/GCCCTC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for GHSR (172161081 - 172166246 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GHSR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv877988CNV Loss21882294
    nsv877987CNV Loss21882294
    nsv829794CNV Gain17160897
    nsv7356OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): GHSR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GHSR
    DNA2.0 Custom Variant and Variant Library Synthesis for GHSR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601898   
    OMIM disorders: 604271  
    UniProtKB/Swiss-Prot: GHSR_HUMAN, Q92847
  • Short stature, idiopathic, autosomal (ISSA) [MIM:604271]: A condition defined by a standing height more
    than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared
    with a well-nourished, genetically relevant population, in the absence of specific causative disorders. Note=The
    disease may be caused by mutations affecting the gene represented in this entry

  • 10 diseases for GHSR:    
    About MalaCards
    short stature    partial isolated growth hormone deficiency    retinitis pigmentosa 43    gastroparesis
    anorexia nervosa    isolated growth hormone deficiency    growth hormone deficiency    cushing's syndrome
    acromegaly    obesity

    2 diseases from the University of Copenhagen DISEASES database for GHSR:
    Gastroparesis     Prader-Willi syndrome

    Find genes that share disorders with GHSR           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GHSR gene (see all 27)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 54.7 29 15616037 (5), 20404923 (5), 18945286 (2), 17229584 (1) (see all 13)
    acromegaly 50.3 6 8126120 (3), 8370708 (2), 9467586 (1)
    gastroparesis 48.7 4 16225494 (1), 19298585 (1), 18946177 (1)
    short stature 48.6 10 16511605 (2), 16511600 (2), 17229584 (1), 19789204 (1) (see all 7)
    prolactinoma 48 4 9709982 (1), 9467586 (1), 11422110 (1)
    pituitary adenoma 44.3 21 11422110 (4), 14616888 (3), 9768675 (2), 9851770 (2) (see all 8)
    pituitary tumors 40.1 6 9467586 (3), 9709982 (1), 9851770 (1), 9768675 (1)
    effects cardiovascular 39.1 6 11294772 (1), 17324965 (1), 18667202 (1)
    growth hormone deficiency 39.1 1 19789204 (1)
    adenoma 32.4 34 10444306 (4), 9768675 (3), 14616888 (3), 8175966 (3) (see all 10)

    Genetic Association Database (GAD): GHSR
    Human Genome Epidemiology (HuGE) Navigator: GHSR (34 documents)

    Export disorders for GHSR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GHSR gene, integrated from 10 sources (see all 380):
    (articles sorted by number of sources associating them with GHSR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A receptor in pituitary and hypothalamus that functions in growth hormone release. (PubMed id 8688086)1, 2, 3 Howard A.D.... van der Ploeg L.H.T. (Science 1996)
    2. Growth hormone secretagogue receptor family members and ligands. (PubMed id 11322507)1, 2, 9 Smith R.G.... Howard A.D. (Endocrine 2001)
    3. A genetic study of the ghrelin and growth hormone secretagogue receptor (GHSR) genes and stature. (PubMed id 18945286)1, 4, 9 Gueorguiev M....Korbonits M. (Ann. Hum. Genet. 2009)
    4. Epistatic interaction between haplotypes of the ghrelin ligand and receptor genes influence susceptibility to myocardial infarction and coronary artery disease. (PubMed id 17324965)1, 4, 9 Baessler A....Hengstenberg C. (Hum. Mol. Genet. 2007)
    5. Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. (PubMed id 16511605)1, 2, 9 Pantel J.... Amselem S. (J. Clin. Invest. 2006)
    6. Ghrelin receptor gene polymorphisms and body size in children and adults. (PubMed id 18647811)1, 4, 9 Garcia E.A....Korbonits M. (J. Clin. Endocrinol. Metab. 2008)
    7. Contrasting association of a non-synonymous leptin receptor gene polymorphism with Wegener's granulomatosis and Churg-Strauss syndrome. (PubMed id 20185531)1, 4, 9 Wieczorek S....Epplen J.T. (Rheumatology (Oxford) 2010)
    8. Association of ghrelin receptor gene polymorphism with bulimia nervosa in a Japanese population. (PubMed id 16362631)1, 4, 9 Miyasaka K....Funakoshi A. (J Neural Transm 2006)
    9. Genomic structure and transcriptional regulation of the human growth hormone secretagogue receptor. (PubMed id 11356716)1, 2, 9 Petersenn S.... Schulte H.M. (Endocrinology 2001)
    10. Polymorphisms of genes coding for ghrelin and its receptor in relation to anthropometry, circulating levels of IGF-I and IGFBP-3, and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition (EPIC). (PubMed id 18375957)1, 4, 9 Dossus L....Kaaks R. (Carcinogenesis 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2693 HGNC: 4267 AceView: GHSR Ensembl:ENSG00000121853 euGenes: HUgn2693
    ECgene: GHSR Kegg: 2693 H-InvDB: GHSR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GHSR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GHSR gene:
    Search GeneIP for patents involving GHSR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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