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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GHSR Gene

protein-coding   GIFtS: 64
GCID: GC03M172162

Growth Hormone Secretagogue Receptor

  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 idiopathic short stature, and among its related super-pathways are Class A/1 (Rhodopsin-like receptors) and Signaling by GPCR. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GHSR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GHSR_HUMAN, Q92847 (See protein sequence)
Recommended Name: Growth hormone secretagogue receptor type 1  
Size: 366 amino acids; 41329 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
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

GHSR Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

REFSEQ proteins (2 alternative transcripts): 
NP_004113.1  NP_940799.1  

ENSEMBL proteins: 
 ENSP00000241256   ENSP00000395344  
Reactome Protein details: Q92847
Human Recombinant Protein Products for GHSR: 
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ProSpec Recombinant Protein for GHSR
Cloud-Clone Corp. Proteins for GHSR 

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

GHSR for ontologies           About GeneDecksing



GHSR Antibody Products: 
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LSBio Antibodies in human, mouse, rat for GHSR 

Assay Products for GHSR: 
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Cloud-Clone Corp. ELISAs for GHSR 
Cloud-Clone Corp. CLIAs for GHSR


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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


GHSR for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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): 5/6 molecular function terms (GO ID links to tree view) (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--
     
GHSR for ontologies           About GeneDecksing


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  homeostasis/metabolism 
 no phenotypic analysis  skeleton 

GHSR for phenotypes           About GeneDecksing

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

   inGenious Targeting Laboratory - Custom generated mouse model solutions for GHSR 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GHSR

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GHSR 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GHSR 

miRNA
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hsa-miR-150
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Inhib. RNA
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Gene Editing
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                     Customized lentivirus expression plasmids for stable overexpression of GHSR 

Cell Line
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Search LifeMap BioReagents cell lines for GHSR
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GHSR


(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for GHSR About                                                                                                See pathways by source

SuperPathContained pathways About
1Class A/1 (Rhodopsin-like receptors)
Class A/1 (Rhodopsin-like receptors)0.71
GPCRs, Class A Rhodopsin-like0.41
GPCR ligand binding0.71
Neuroactive ligand-receptor interaction0.37
Peptide ligand-binding receptors0.60
2Signaling by GPCR
Signaling by GPCR0.90
Signal Transduction0.55
GPCR downstream signaling0.90
3G alpha (q) signalling events
Gastrin-CREB signalling pathway via PKC and MAPK0.90
G alpha (q) signalling events0.90
4Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q
Peptide GPCRs0.46
5Selected targets of GCR-alpha
Selected targets of GCR-alpha

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 EMD Millipore Pathway for GHSR
    Selected targets of GCR-alpha


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

5/8        Reactome Pathways for GHSR (see all 8)
    GPCR downstream signaling
Peptide ligand-binding receptors
Gastrin-CREB signalling pathway via PKC and MAPK
Signaling by GPCR
GPCR ligand binding


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


GHSR for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GHSR

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

5/125 Interacting proteins for GHSR (Q928473 ENSP000002412564) via UniProtKB, MINT, STRING, and/or I2D (see all 125)
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): 5/20 biological process terms (GO ID links to tree view) (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 stimulus IDA15232612
GO:0009755hormone-mediated signaling pathway IDA8688086

GHSR for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GHSR for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Enzo Life Sciences drugs & compounds for GHSR

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]

10/17 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

10/28 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)

Search CenterWatch for drugs/clinical trials and news about GHSR

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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)
miRNA
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for GHSR
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                     Customized lentivirus expression plasmids for stable overexpression of GHSR 
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GHSR

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 NM_198407 U60179 BC069374 BV198882 BC069068 U60181 NM_004122 
CD618077 CD618071 CD618075 CD618068 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GHSR expression in normal human tissues (normalized intensities)      GHSR embryonic expression: see
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 
 5/3 selected tissues (see all 3) fully expand
 
 Brain (Nervous System)    fully expand to see all 16 entries
         Thalamus
         Midbrain   
 
 Spinal Cord (Nervous System)    fully expand to see all 2 entries
         Dorsal Horn   
 
 Neural Tube (Nervous System)
         Spinal Ventral Columns

Genevestigator expression for GHSR

SOURCE GeneReport for Unigene cluster: Hs.130212

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

    SABiosciences Expression via Pathway-Focused PCR Arrays including GHSR: 
          G Protein Coupled Receptors 384HT in human mouse rat
          Obesity in human mouse rat

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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GHSR
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GHSR

(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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for GHSR gene from 6/11 species (see all 11)    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)
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 ETHR6
ETHR
19(a)
possible ortholog
3R(17073026-17090856)
worm
(Caenorhabditis elegans)
Secernentea npr-336
npr-156
Neuropeptide receptor 15
21(a)
19(a)
possible ortholog
possible ortholog
X(15910638-15914159)
III(3683256-3685808)


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)
About This Section
Paralogs for GHSR gene
NTSR12  GPR392  NMUR12  MLNR2  NMUR22  TRHR2  NTSR22  
17 SIMAP similar genes for GHSR using alignment to 2 protein entries:     GHSR_HUMAN (see all proteins):
HTR2A    CCKBR    QRFPR    HCRTR1    CCRL2    CCR5
NMUR2    SSTR5    HTR4    ADRA2C    MLNR    NTSR1
CCR2    OPRM1    CCR7    NMUR1    OPRK1

GHSR for paralogs           About GeneDecksing


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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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10/262 SNPs in GHSR are shown (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
SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
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

  • 20/55 diseases for GHSR (see all 55):    About MalaCards
    short stature    idiopathic short stature    anorexia nervosa    partial isolated growth hormone deficiency
    gastroparesis    growth hormone secreting pituitary adenoma    ileus    growth hormone deficiency
    prolactinoma    acromegaly    isolated growth hormone deficiency    obesity
    cushing's syndrome    neuroendocrine tumor    bulimia nervosa    pituitary adenoma
    pituitary tumors    insulinoma    hyperglycemia    gestational diabetes

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

    GHSR for disorders           About GeneDecksing

    10/27 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)
    About This Section

    PubMed articles for GHSR gene, integrated from 9 sources (see all 375):
    (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. (1996)
    2. Growth hormone secretagogue receptor family members and ligands. (PubMed id 11322507)1, 2, 9 Smith R.G.... Howard A.D. (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. (2008)
    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. (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. (2006)
    6. Ghrelin receptor gene polymorphisms and body size in children and adults. (PubMed id 18647811)1, 4, 9 Garcia E.A....Korbonits M. (2008)
    7. Contrasting association of a non-synonymous leptin re ceptor gene polymorphism with Wegener's granulomatosis and Churg-Strauss syndro me. (PubMed id 20185531)1, 4, 9 Wieczorek S....Epplen J.T. (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. (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. (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. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Free Text  

      Query String
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      (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)
    About This Section
    Entrez Gene: 2693 HGNC: 4267 AceView: GHSR Ensembl:ENSG00000121853 euGenes: HUgn2693
    ECgene: GHSR Kegg: 2693 H-InvDB: GHSR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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