GHSR (growth hormone secretagogue receptor) - Rat Genome Database

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Gene: GHSR (growth hormone secretagogue receptor) Homo sapiens
Analyze
Symbol: GHSR
Name: growth hormone secretagogue receptor
RGD ID: 730941
HGNC Page HGNC:4267
Description: Enables growth hormone secretagogue receptor activity; growth hormone-releasing hormone receptor activity; and identical protein binding activity. Involved in several processes, including actin polymerization or depolymerization; decidualization; and negative regulation of cytokine production. Located in cell surface; membrane raft; and neuron projection. Implicated in obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GH-releasing peptide receptor; GHDP; ghrelin receptor; GHRP; GHS-R; growth hormone secretagogue receptor type 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GPR166P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383172,443,291 - 172,448,456 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3172,443,291 - 172,448,456 (-)EnsemblGRCh38hg38GRCh38
GRCh373172,161,081 - 172,166,246 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363173,645,645 - 173,648,897 (-)NCBINCBI36Build 36hg18NCBI36
Build 343173,648,035 - 173,648,905NCBI
Celera3170,559,676 - 170,564,839 (-)NCBICelera
Cytogenetic Map3q26.31NCBI
HuRef3169,531,507 - 169,536,581 (-)NCBIHuRef
CHM1_13172,123,965 - 172,129,130 (-)NCBICHM1_1
T2T-CHM13v2.03175,228,381 - 175,233,536 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin polymerization or depolymerization  (IDA)
adult feeding behavior  (IEA,ISS)
cellular response to insulin stimulus  (IEA,ISO)
cellular response to insulin-like growth factor stimulus  (IEA,ISO)
cellular response to lipopolysaccharide  (IEA,ISO)
cellular response to thyroid hormone stimulus  (IEA,ISO)
decidualization  (IDA)
female pregnancy  (IEA,ISO)
G protein-coupled receptor signaling pathway  (IBA,IDA,IEA,ISO)
ghrelin secretion  (IEA,ISO)
growth hormone secretion  (IEA,ISO,TAS)
hormone-mediated signaling pathway  (IBA,IDA)
insulin-like growth factor receptor signaling pathway  (IEA,ISO)
learning or memory  (IEA,ISO)
negative regulation of appetite  (IEA,ISO)
negative regulation of inflammatory response  (IDA)
negative regulation of insulin secretion  (IEA,ISO)
negative regulation of interleukin-1 beta production  (IDA)
negative regulation of interleukin-6 production  (IDA)
negative regulation of locomotion involved in locomotory behavior  (IEA,ISO)
negative regulation of macrophage apoptotic process  (IEA,ISO)
negative regulation of norepinephrine secretion  (IEA,ISO)
negative regulation of tumor necrosis factor production  (IDA,IEA,ISO)
positive regulation of appetite  (IEA,ISS)
positive regulation of eating behavior  (IEA,ISO)
positive regulation of fatty acid metabolic process  (IEA,ISO)
positive regulation of growth  (IEA,ISO)
positive regulation of insulin-like growth factor receptor signaling pathway  (IEA,ISO)
positive regulation of multicellular organism growth  (IMP)
positive regulation of small intestinal transit  (IEA,ISO)
positive regulation of small intestine smooth muscle contraction  (IEA,ISO)
positive regulation of sprouting angiogenesis  (IEA,ISO)
positive regulation of vascular endothelial cell proliferation  (IEA,ISO)
postsynaptic modulation of chemical synaptic transmission  (IEA)
regulation of feeding behavior  (IEA,ISO)
regulation of gastric motility  (IEA,ISO)
regulation of growth hormone secretion  (IEA,ISO)
regulation of hindgut contraction  (IEA,ISO)
regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  (IEA)
regulation of postsynapse organization  (IEA)
regulation of synapse assembly  (IEA,ISO)
regulation of transmission of nerve impulse  (IEA,ISO)
response to dexamethasone  (IEA,ISO)
response to estradiol  (IEA,ISO)
response to follicle-stimulating hormone  (IEA,ISO)
response to food  (IEA,ISO)
response to growth hormone  (IEA,ISO)
response to hormone  (IDA)
response to monosodium glutamate  (IEA,ISO)
signal transduction  (IEA)
spermatogenesis  (IEA,ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. DNA regulatory sequences of the rat tyrosine hydroxylase gene direct correct catecholaminergic cell-type specificity of a human growth hormone reporter in the CNS of transgenic mice causing a dwarf phenotype. Banerjee SA, etal., Brain Res Mol Brain Res. 1994 Jul;24(1-4):89-106.
2. Growth hormone secretagogue receptor deficiency in mice protects against obesity-induced hypertension. Harris LE, etal., Physiol Rep. 2014 Mar 20;2(3):e00240. doi: 10.1002/phy2.240. Print 2014.
3. Ghrelin receptor mutations--too little height and too much hunger. Holst B and Schwartz TW, J Clin Invest. 2006 Mar;116(3):637-41.
4. Neuroprotective effect of ghrelin is associated with decreased expression of prostate apoptosis response-4. Hwang S, etal., Endocr J. 2009;56(4):609-17. Epub 2009 Apr 7.
5. Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature. Inoue H, etal., J Clin Endocrinol Metab. 2011 Feb;96(2):E373-8. doi: 10.1210/jc.2010-1570. Epub 2010 Nov 17.
6. Growth hormone-dependent regulation of pituitary GH secretagogue receptor (GHS-R) mRNA levels in the spontaneous dwarf Rat. Kamegai J, etal., Neuroendocrinology. 1998 Nov;68(5):312-8.
7. Ghrelin: structure and function. Kojima M and Kangawa K, Physiol Rev. 2005 Apr;85(2):495-522.
8. Ghrelin inhibits BSCB disruption/hemorrhage by attenuating MMP-9 and SUR1/TrpM4 expression and activation after spinal cord injury. Lee JY, etal., Biochim Biophys Acta. 2014 Dec;1842(12 Pt A):2403-12. doi: 10.1016/j.bbadis.2014.09.006. Epub 2014 Sep 28.
9. Cardioprotective effects of ghrelin and des-octanoyl ghrelin on myocardial injury induced by isoproterenol in rats. Li L, etal., Acta Pharmacol Sin. 2006 May;27(5):527-35.
10. Ghrelin protects cortical neuron against focal ischemia/reperfusion in rats. Miao Y, etal., Biochem Biophys Res Commun. 2007 Aug 3;359(3):795-800. Epub 2007 Jun 6.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. Pantel J, etal., J Clin Invest. 2006 Mar;116(3):760-8.
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Orexin Plays a Role in Growth Impediment Induced by Obstructive Sleep Breathing in Rats. Tarasiuk A, etal., Sleep. 2016 Apr 1;39(4):887-97. doi: 10.5665/sleep.5648.
17. Obesity in MENX Rats Is Accompanied by High Circulating Levels of Ghrelin and Improved Insulin Sensitivity. Wiedemann T, etal., Diabetes. 2016 Feb;65(2):406-20. doi: 10.2337/db15-0374. Epub 2015 Oct 28.
18. Upregulation of cardiovascular ghrelin receptor occurs in the hyperdynamic phase of sepsis. Wu R, etal., Am J Physiol Heart Circ Physiol. 2004 Sep;287(3):H1296-302. Epub 2004 May 20.
19. Effects of ghrelin on gastric distention sensitive neurons in the arcuate nucleus of hypothalamus and gastric motility in diabetic rats. Xu L, etal., Peptides. 2013 Oct;48:137-46. doi: 10.1016/j.peptides.2013.08.010. Epub 2013 Aug 18.
20. [Relationship between Ghrelin and growth hormone secretagogue receptor expression and catch-up growth in rats with intrauterine growth restriction]. Yang HM, etal., Zhongguo Dang Dai Er Ke Za Zhi. 2010 Jul;12(7):563-8.
21. Ghrelin modulates physiologic and pathologic retinal angiogenesis through GHSR-1a. Zaniolo K, etal., Invest Ophthalmol Vis Sci. 2011 Jul 23;52(8):5376-86. doi: 10.1167/iovs.10-7152.
22. Acylated ghrelin protects hippocampal neurons in pilocarpine-induced seizures of immature rats by inhibiting cell apoptosis. Zhang R, etal., Mol Biol Rep. 2013 Jan;40(1):51-8. doi: 10.1007/s11033-012-1993-1. Epub 2012 Nov 6.
Additional References at PubMed
PMID:601898   PMID:8688086   PMID:9092793   PMID:9852035   PMID:10604470   PMID:11227737   PMID:11322498   PMID:11322507   PMID:11356716   PMID:12045256   PMID:12477932   PMID:12511847  
PMID:12574228   PMID:12890514   PMID:14701677   PMID:14715843   PMID:14715878   PMID:14719137   PMID:14755130   PMID:14763915   PMID:15062547   PMID:15080774   PMID:15232612   PMID:15383539  
PMID:15489334   PMID:15585554   PMID:15616037   PMID:16020971   PMID:16362631   PMID:16527811   PMID:16567594   PMID:16582936   PMID:16606630   PMID:16754659   PMID:16787234   PMID:17018595  
PMID:17229547   PMID:17324965   PMID:17428235   PMID:17494105   PMID:17601657   PMID:17885924   PMID:18064392   PMID:18375957   PMID:18425803   PMID:18426818   PMID:18573679   PMID:18647811  
PMID:18698404   PMID:18828808   PMID:18945286   PMID:19024096   PMID:19056482   PMID:19058789   PMID:19077438   PMID:19088192   PMID:19165163   PMID:19262695   PMID:19453261   PMID:19487270  
PMID:19506043   PMID:19670151   PMID:19782690   PMID:19789204   PMID:19876004   PMID:19887765   PMID:19913121   PMID:20150876   PMID:20164039   PMID:20185531   PMID:20201926   PMID:20346234  
PMID:20404923   PMID:20453000   PMID:20468064   PMID:20586762   PMID:20599926   PMID:20616368   PMID:20628086   PMID:20636306   PMID:20727371   PMID:20804798   PMID:20861603   PMID:20881960  
PMID:20920174   PMID:21145775   PMID:21269581   PMID:21606657   PMID:21616122   PMID:21646290   PMID:21664965   PMID:21873635   PMID:21903149   PMID:21930173   PMID:21956643   PMID:22087538  
PMID:22117076   PMID:22327910   PMID:22411573   PMID:22457237   PMID:22465164   PMID:22573814   PMID:22632856   PMID:22632858   PMID:22846991   PMID:22876551   PMID:22899222   PMID:23079033  
PMID:23161547   PMID:23515787   PMID:23563607   PMID:23722988   PMID:23807739   PMID:23816797   PMID:23839942   PMID:23982275   PMID:24194510   PMID:24651458   PMID:24809812   PMID:25200304  
PMID:25261469   PMID:25376984   PMID:25429064   PMID:25524946   PMID:25603164   PMID:25727097   PMID:26059200   PMID:26424410   PMID:26754660   PMID:26935831   PMID:27129257   PMID:27207529  
PMID:27288828   PMID:27464938   PMID:27474249   PMID:28119363   PMID:28319085   PMID:28377557   PMID:28387359   PMID:29317796   PMID:29412824   PMID:29632174   PMID:29876881   PMID:29950536  
PMID:29963901   PMID:30177523   PMID:30269201   PMID:30597386   PMID:31750884   PMID:31911434   PMID:31974445   PMID:32442579   PMID:32803260   PMID:32814772   PMID:33091847   PMID:33264473  
PMID:33713808   PMID:33857472   PMID:33966114   PMID:34168117   PMID:34417468   PMID:34663757   PMID:35016882   PMID:35446515  


Genomics

Comparative Map Data
GHSR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383172,443,291 - 172,448,456 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3172,443,291 - 172,448,456 (-)EnsemblGRCh38hg38GRCh38
GRCh373172,161,081 - 172,166,246 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363173,645,645 - 173,648,897 (-)NCBINCBI36Build 36hg18NCBI36
Build 343173,648,035 - 173,648,905NCBI
Celera3170,559,676 - 170,564,839 (-)NCBICelera
Cytogenetic Map3q26.31NCBI
HuRef3169,531,507 - 169,536,581 (-)NCBIHuRef
CHM1_13172,123,965 - 172,129,130 (-)NCBICHM1_1
T2T-CHM13v2.03175,228,381 - 175,233,536 (-)NCBIT2T-CHM13v2.0
Ghsr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39327,425,500 - 27,433,384 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl327,425,500 - 27,432,159 (+)EnsemblGRCm39 Ensembl
GRCm38327,371,351 - 27,379,235 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl327,371,351 - 27,378,010 (+)EnsemblGRCm38mm10GRCm38
MGSCv37327,270,273 - 27,276,932 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36327,562,424 - 27,569,083 (+)NCBIMGSCv36mm8
Celera327,331,821 - 27,338,480 (+)NCBICelera
Cytogenetic Map3A3NCBI
Ghsr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22110,268,489 - 110,271,865 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2110,268,489 - 110,271,865 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2116,922,519 - 116,925,893 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.02115,035,078 - 115,038,452 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.02109,749,447 - 109,752,824 (+)NCBIRnor_WKY
Rnor_6.02113,065,953 - 113,071,265 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2113,066,885 - 113,070,261 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02132,784,207 - 132,789,319 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42113,269,623 - 113,272,999 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12113,214,584 - 113,217,961 (+)NCBI
Celera2105,470,925 - 105,474,301 (+)NCBICelera
Cytogenetic Map2q24NCBI
Ghsr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554202,478,877 - 2,487,215 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554202,483,173 - 2,486,414 (-)NCBIChiLan1.0ChiLan1.0
GHSR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13177,633,039 - 177,638,202 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3177,633,039 - 177,638,202 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03169,448,217 - 169,458,602 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
GHSR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13436,691,132 - 36,694,304 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3436,690,224 - 36,694,312 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3445,703,894 - 45,707,255 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03436,775,648 - 36,779,007 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3436,774,740 - 36,779,009 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13436,714,573 - 36,717,930 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03436,683,080 - 36,686,432 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03436,941,135 - 36,944,502 (-)NCBIUU_Cfam_GSD_1.0
Ghsr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602103,348,347 - 103,353,683 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936593268,350 - 277,229 (+)EnsemblSpeTri2.0
SpeTri2.0NW_004936593268,736 - 273,623 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GHSR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13110,983,298 - 111,038,324 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113110,981,465 - 111,006,149 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213119,917,068 - 119,929,590 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GHSR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11517,008,185 - 17,013,504 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1517,009,369 - 17,012,618 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606325,770,911 - 25,777,537 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ghsr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473050,488,887 - 50,492,405 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473050,484,763 - 50,492,443 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GHSR
108 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:313
Count of miRNA genes:208
Interacting mature miRNAs:215
Transcripts:ENST00000241256, ENST00000427970
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
GHSR__6803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373172,165,205 - 172,165,968UniSTSGRCh37
Build 363173,647,899 - 173,648,662RGDNCBI36
Celera3170,563,798 - 170,564,561RGD
HuRef3169,535,629 - 169,536,392UniSTS
G68325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373172,162,883 - 172,163,375UniSTSGRCh37
Build 363173,645,577 - 173,646,069RGDNCBI36
Celera3170,561,478 - 170,561,970RGD
Cytogenetic Map3q26.31UniSTS
HuRef3169,533,309 - 169,533,801UniSTS
G68326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373172,165,255 - 172,165,653UniSTSGRCh37
Build 363173,647,949 - 173,648,347RGDNCBI36
Celera3170,563,848 - 170,564,246RGD
Cytogenetic Map3q26.31UniSTS
HuRef3169,535,679 - 169,536,077UniSTS
G68327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373172,165,535 - 172,165,913UniSTSGRCh37
Build 363173,648,229 - 173,648,607RGDNCBI36
Celera3170,564,128 - 170,564,506RGD
Cytogenetic Map3q26.31UniSTS
HuRef3169,535,959 - 169,536,337UniSTS
G68328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373172,165,757 - 172,166,284UniSTSGRCh37
Build 363173,648,451 - 173,648,978RGDNCBI36
Celera3170,564,350 - 170,564,877RGD
Cytogenetic Map3q26.31UniSTS
HuRef3169,536,181 - 169,536,910UniSTS
UniSTS:480752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373172,165,334 - 172,166,203UniSTSGRCh37
Celera3170,563,927 - 170,564,796UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 29 31
Low 6 5 248 13 3 4 361 13 8 1 2
Below cutoff 629 605 222 80 513 56 496 455 630 35 421 335 26 155 350 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC069523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF099083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF369786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY322544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS174239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ864722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB660530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA417646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000241256   ⟹   ENSP00000241256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3172,443,291 - 172,448,456 (-)Ensembl
RefSeq Acc Id: ENST00000427970   ⟹   ENSP00000395344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3172,447,544 - 172,448,455 (-)Ensembl
RefSeq Acc Id: NM_004122   ⟹   NP_004113
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383172,447,543 - 172,448,456 (-)NCBI
GRCh373172,161,081 - 172,166,246 (-)ENTREZGENE
Build 363173,648,028 - 173,648,897 (-)NCBI Archive
HuRef3169,531,507 - 169,536,581 (-)ENTREZGENE
CHM1_13172,128,217 - 172,129,130 (-)NCBI
T2T-CHM13v2.03175,232,623 - 175,233,536 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198407   ⟹   NP_940799
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383172,443,291 - 172,448,456 (-)NCBI
GRCh373172,161,081 - 172,166,246 (-)ENTREZGENE
Build 363173,645,645 - 173,648,897 (-)NCBI Archive
HuRef3169,531,507 - 169,536,581 (-)ENTREZGENE
CHM1_13172,123,965 - 172,129,130 (-)NCBI
T2T-CHM13v2.03175,228,381 - 175,233,536 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_940799   ⟸   NM_198407
- Peptide Label: isoform 1a
- UniProtKB: Q96RJ7 (UniProtKB/Swiss-Prot),   Q92847 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004113   ⟸   NM_004122
- Peptide Label: isoform 1b
- UniProtKB: Q92847 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000241256   ⟸   ENST00000241256
RefSeq Acc Id: ENSP00000395344   ⟸   ENST00000427970
Protein Domains
G_PROTEIN_RECEP_F1_2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92847-F1-model_v2 AlphaFold Q92847 1-366 view protein structure

Promoters
RGD ID:6866290
Promoter ID:EPDNEW_H6310
Type:initiation region
Name:GHSR_1
Description:growth hormone secretagogue receptor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383172,448,493 - 172,448,553EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_198407.2(GHSR):c.847C>T (p.Arg283Ter) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000778689]|not provided [RCV000579164] Chr3:172445415 [GRCh38]
Chr3:172163205 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu) single nucleotide variant Inborn genetic diseases [RCV000623182]|Short stature due to growth hormone secretagogue receptor deficiency [RCV000008071]|not provided [RCV001572673] Chr3:172447803 [GRCh38]
Chr3:172165593 [GRCh37]
Chr3:3q26.31
pathogenic|likely pathogenic
NM_198407.2(GHSR):c.6G>A (p.Trp2Ter) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000008072] Chr3:172448408 [GRCh38]
Chr3:172166198 [GRCh37]
Chr3:3q26.31
pathogenic
NM_198407.2(GHSR):c.709A>T (p.Arg237Trp) single nucleotide variant Inborn genetic diseases [RCV001266521]|Short stature due to growth hormone secretagogue receptor deficiency [RCV000008073]|not provided [RCV001573391] Chr3:172447705 [GRCh38]
Chr3:172165495 [GRCh37]
Chr3:3q26.31
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 copy number gain See cases [RCV000051735] Chr3:158141556..172788324 [GRCh38]
Chr3:157859345..172506114 [GRCh37]
Chr3:159342039..173988808 [NCBI36]
Chr3:3q25.32-26.31
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_198407.2(GHSR):c.495C>T (p.Phe165=) single nucleotide variant Malignant melanoma [RCV000065931] Chr3:172447919 [GRCh38]
Chr3:172165709 [GRCh37]
Chr3:173648403 [NCBI36]
Chr3:3q26.31
not provided
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 copy number gain See cases [RCV000139359] Chr3:165158611..180130168 [GRCh38]
Chr3:164876399..179847956 [GRCh37]
Chr3:166359093..181330650 [NCBI36]
Chr3:3q26.1-26.33
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28
likely pathogenic
GRCh38/hg38 3q26.31(chr3:171968610-173131280)x1 copy number loss See cases [RCV000142520] Chr3:171968610..173131280 [GRCh38]
Chr3:171686400..172849070 [GRCh37]
Chr3:173169094..174331764 [NCBI36]
Chr3:3q26.31
likely pathogenic|uncertain significance
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
GRCh38/hg38 3q26.31(chr3:171960150-172473569)x1 copy number loss See cases [RCV000143602] Chr3:171960150..172473569 [GRCh38]
Chr3:171677940..172191359 [GRCh37]
Chr3:173160634..173674053 [NCBI36]
Chr3:3q26.31
likely pathogenic|uncertain significance
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_198407.2(GHSR):c.219G>T (p.Glu73Asp) single nucleotide variant not provided [RCV000519000] Chr3:172448195 [GRCh38]
Chr3:172165985 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q26.31(chr3:172003745-172520446)x3 copy number gain Ductal breast carcinoma [RCV000207159] Chr3:172003745..172520446 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1554C>T single nucleotide variant Short stature due to partial GHR deficiency [RCV000280899] Chr3:172443607 [GRCh38]
Chr3:172161397 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*813A>G single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000270688] Chr3:172444348 [GRCh38]
Chr3:172162138 [GRCh37]
Chr3:3q26.31
likely benign|uncertain significance
NM_198407.2(GHSR):c.171C>T (p.Gly57=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000359880]|not provided [RCV002058472]|not specified [RCV000244530] Chr3:172448243 [GRCh38]
Chr3:172166033 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.477G>A (p.Arg159=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000347022]|not provided [RCV001723864]|not specified [RCV000249477] Chr3:172447937 [GRCh38]
Chr3:172165727 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.1051C>T (p.Leu351=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000352801] Chr3:172445211 [GRCh38]
Chr3:172163001 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*122C>T single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000373641]|not provided [RCV001537015] Chr3:172445039 [GRCh38]
Chr3:172162829 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.*294C>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000316278] Chr3:172444867 [GRCh38]
Chr3:172162657 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.-23G>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000301667] Chr3:172448436 [GRCh38]
Chr3:172166226 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1815C>G single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000286764] Chr3:172443346 [GRCh38]
Chr3:172161136 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1676_*1679del deletion Short stature due to partial GHR deficiency [RCV000339492] Chr3:172443482..172443485 [GRCh38]
Chr3:172161272..172161275 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.60C>T (p.Asp20=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000404056]|not provided [RCV002057867] Chr3:172448354 [GRCh38]
Chr3:172166144 [GRCh37]
Chr3:3q26.31
benign|likely benign
NM_198407.2(GHSR):c.447C>G (p.Leu149=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000404209]|not provided [RCV001691981] Chr3:172447967 [GRCh38]
Chr3:172165757 [GRCh37]
Chr3:3q26.31
benign|likely benign
NM_198407.2(GHSR):c.*1109G>T single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000404823] Chr3:172444052 [GRCh38]
Chr3:172161842 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.*561_*568del deletion Short stature due to partial GHR deficiency [RCV000322104] Chr3:172444593..172444600 [GRCh38]
Chr3:172162383..172162390 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.*792G>C single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000361682] Chr3:172444369 [GRCh38]
Chr3:172162159 [GRCh37]
Chr3:3q26.31
benign|likely benign
NM_198407.2(GHSR):c.*796A>T single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000323391] Chr3:172444365 [GRCh38]
Chr3:172162155 [GRCh37]
Chr3:3q26.31
benign|likely benign
NM_198407.2(GHSR):c.*829C>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000362395] Chr3:172444332 [GRCh38]
Chr3:172162122 [GRCh37]
Chr3:3q26.31
likely benign|uncertain significance
NM_198407.2(GHSR):c.271C>T (p.Leu91Phe) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000307302]|not provided [RCV000872023] Chr3:172448143 [GRCh38]
Chr3:172165933 [GRCh37]
Chr3:3q26.31
benign|uncertain significance
NM_198407.2(GHSR):c.*834C>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000309992] Chr3:172444327 [GRCh38]
Chr3:172162117 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.1017A>G (p.Gly339=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000390909]|not provided [RCV002061228] Chr3:172445245 [GRCh38]
Chr3:172163035 [GRCh37]
Chr3:3q26.31
likely benign|uncertain significance
NM_198407.2(GHSR):c.*114A>G single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000295574]|not provided [RCV001653663] Chr3:172445047 [GRCh38]
Chr3:172162837 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.*1024G>C single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000368120] Chr3:172444137 [GRCh38]
Chr3:172161927 [GRCh37]
Chr3:3q26.31
benign|likely benign
NM_198407.2(GHSR):c.*1046T>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000310970] Chr3:172444115 [GRCh38]
Chr3:172161905 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1308T>G single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000298088] Chr3:172443853 [GRCh38]
Chr3:172161643 [GRCh37]
Chr3:3q26.31
benign|likely benign
NM_198407.2(GHSR):c.*1268T>C single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000350687] Chr3:172443893 [GRCh38]
Chr3:172161683 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*842T>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000271193] Chr3:172444319 [GRCh38]
Chr3:172162109 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*300G>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000282300] Chr3:172444861 [GRCh38]
Chr3:172162651 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*758G>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000264709] Chr3:172444403 [GRCh38]
Chr3:172162193 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1345G>T single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000403953] Chr3:172443816 [GRCh38]
Chr3:172161606 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1506C>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000338252] Chr3:172443655 [GRCh38]
Chr3:172161445 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1880delA deletion Short stature due to partial GHR deficiency [RCV000397207] Chr3:172443281 [GRCh38]
Chr3:172161071 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.*472C>T single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000374435] Chr3:172444689 [GRCh38]
Chr3:172162479 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1608C>T single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000377506] Chr3:172443553 [GRCh38]
Chr3:172161343 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1832G>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV000378799] Chr3:172443329 [GRCh38]
Chr3:172161119 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q26.31(chr3:171852267-172413810)x3 copy number gain See cases [RCV000446103] Chr3:171852267..172413810 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_198407.2(GHSR):c.878del (p.Gly293fs) deletion not provided [RCV000627460] Chr3:172445384 [GRCh38]
Chr3:172163174 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_198407.2(GHSR):c.796+245T>C single nucleotide variant not provided [RCV001709826] Chr3:172447373 [GRCh38]
Chr3:172165163 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.422G>C (p.Arg141Pro) single nucleotide variant not provided [RCV001577947] Chr3:172447992 [GRCh38]
Chr3:172165782 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.124C>G (p.Leu42Val) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147224]|not provided [RCV002032373] Chr3:172448290 [GRCh38]
Chr3:172166080 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.1020C>T (p.Phe340=) single nucleotide variant not provided [RCV000946062] Chr3:172445242 [GRCh38]
Chr3:172163032 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.1029C>T (p.Phe343=) single nucleotide variant not provided [RCV000914302] Chr3:172445233 [GRCh38]
Chr3:172163023 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.507C>T (p.Ala169=) single nucleotide variant not provided [RCV000871457] Chr3:172447907 [GRCh38]
Chr3:172165697 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.432C>T (p.Ala144=) single nucleotide variant not provided [RCV000864847] Chr3:172447982 [GRCh38]
Chr3:172165772 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.924C>G (p.Ser308=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001149559]|not provided [RCV000939623] Chr3:172445338 [GRCh38]
Chr3:172163128 [GRCh37]
Chr3:3q26.31
likely benign|uncertain significance
NM_198407.2(GHSR):c.144C>T (p.Ala48=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147223]|not provided [RCV000865398] Chr3:172448270 [GRCh38]
Chr3:172166060 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.*512A>G single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147130] Chr3:172444649 [GRCh38]
Chr3:172162439 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.102G>A (p.Leu34=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147225] Chr3:172448312 [GRCh38]
Chr3:172166102 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.68C>T (p.Ala23Val) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147227] Chr3:172448346 [GRCh38]
Chr3:172166136 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1445A>G single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001149447] Chr3:172443716 [GRCh38]
Chr3:172161506 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1161C>T single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001149448] Chr3:172444000 [GRCh38]
Chr3:172161790 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.824G>C (p.Cys275Ser) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001149560] Chr3:172445438 [GRCh38]
Chr3:172163228 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1728A>G single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147910] Chr3:172443433 [GRCh38]
Chr3:172161223 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.*1532C>G single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147912] Chr3:172443629 [GRCh38]
Chr3:172161419 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*398T>C single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001148015] Chr3:172444763 [GRCh38]
Chr3:172162553 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.*1158G>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001149449] Chr3:172444003 [GRCh38]
Chr3:172161793 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.210C>T (p.Arg70=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147222]|not provided [RCV002070786] Chr3:172448204 [GRCh38]
Chr3:172165994 [GRCh37]
Chr3:3q26.31
benign|likely benign
NM_198407.2(GHSR):c.*5G>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001149556] Chr3:172445156 [GRCh38]
Chr3:172162946 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1775G>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147908] Chr3:172443386 [GRCh38]
Chr3:172161176 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.*378T>C single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001148016] Chr3:172444783 [GRCh38]
Chr3:172162573 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.*1857G>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147022] Chr3:172443304 [GRCh38]
Chr3:172161094 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1805G>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147907] Chr3:172443356 [GRCh38]
Chr3:172161146 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*676C>T single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147129] Chr3:172444485 [GRCh38]
Chr3:172162275 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1073A>G single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001145161] Chr3:172444088 [GRCh38]
Chr3:172161878 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*950A>C single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001145162] Chr3:172444211 [GRCh38]
Chr3:172162001 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*840A>G single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001145163] Chr3:172444321 [GRCh38]
Chr3:172162111 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q26.31(chr3:172095903-173254604)x3 copy number gain not provided [RCV000847729] Chr3:172095903..173254604 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.84C>T (p.Asp28=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147226] Chr3:172448330 [GRCh38]
Chr3:172166120 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.422G>T (p.Arg141Leu) single nucleotide variant not provided [RCV001547453] Chr3:172447992 [GRCh38]
Chr3:172165782 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.531C>A (p.Pro177=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001145273]|not provided [RCV000865176] Chr3:172447883 [GRCh38]
Chr3:172165673 [GRCh37]
Chr3:3q26.31
benign|likely benign
NM_198407.2(GHSR):c.777G>T (p.Lys259Asn) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001145272] Chr3:172447637 [GRCh38]
Chr3:172165427 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*747G>T single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147128] Chr3:172444414 [GRCh38]
Chr3:172162204 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.*1736A>G single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147909] Chr3:172443425 [GRCh38]
Chr3:172161215 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.474G>A (p.Gly158=) single nucleotide variant not provided [RCV000934126] Chr3:172447940 [GRCh38]
Chr3:172165730 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.796+219TC[5] microsatellite not provided [RCV001636139] Chr3:172447388..172447389 [GRCh38]
Chr3:172165178..172165179 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.797-194C>T single nucleotide variant not provided [RCV001598093] Chr3:172445659 [GRCh38]
Chr3:172163449 [GRCh37]
Chr3:3q26.31
benign
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28
pathogenic
NM_198407.2(GHSR):c.790del (p.Met264fs) deletion not provided [RCV001008067] Chr3:172447624 [GRCh38]
Chr3:172165414 [GRCh37]
Chr3:3q26.31
likely pathogenic|uncertain significance
NM_198407.2(GHSR):c.823T>C (p.Cys275Arg) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001145271]|not provided [RCV002070754] Chr3:172445439 [GRCh38]
Chr3:172163229 [GRCh37]
Chr3:3q26.31
likely benign|uncertain significance
NM_198407.2(GHSR):c.354C>T (p.Leu118=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001145274]|not provided [RCV002070755] Chr3:172448060 [GRCh38]
Chr3:172165850 [GRCh37]
Chr3:3q26.31
benign
NM_198407.2(GHSR):c.1070G>A (p.Arg357Gln) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001149557]|not provided [RCV001575689] Chr3:172445192 [GRCh38]
Chr3:172162982 [GRCh37]
Chr3:3q26.31
conflicting interpretations of pathogenicity|uncertain significance
NM_198407.2(GHSR):c.*1712T>A single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001147911] Chr3:172443449 [GRCh38]
Chr3:172161239 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.231C>G (p.Thr77=) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001145275] Chr3:172448183 [GRCh38]
Chr3:172165973 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.994G>C (p.Val332Leu) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001149558] Chr3:172445268 [GRCh38]
Chr3:172163058 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.1069C>T (p.Arg357Trp) single nucleotide variant Inborn genetic diseases [RCV001266522] Chr3:172445193 [GRCh38]
Chr3:172162983 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.617G>C (p.Arg206Pro) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001262916] Chr3:172447797 [GRCh38]
Chr3:172165587 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.820C>T (p.Leu274Phe) single nucleotide variant Inborn genetic diseases [RCV001266132]|not provided [RCV001880110] Chr3:172445442 [GRCh38]
Chr3:172163232 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.1072G>A (p.Ala358Thr) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001335621]|not provided [RCV002070203] Chr3:172445190 [GRCh38]
Chr3:172162980 [GRCh37]
Chr3:3q26.31
benign|uncertain significance
NM_198407.2(GHSR):c.96C>G (p.Asp32Glu) single nucleotide variant not provided [RCV001354790] Chr3:172448318 [GRCh38]
Chr3:172166108 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.733G>A (p.Gly245Ser) single nucleotide variant not provided [RCV001354890] Chr3:172447681 [GRCh38]
Chr3:172165471 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.595C>G (p.Arg199Gly) single nucleotide variant not provided [RCV001753344] Chr3:172447819 [GRCh38]
Chr3:172165609 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.553G>T (p.Glu185Ter) single nucleotide variant not provided [RCV001755674] Chr3:172447861 [GRCh38]
Chr3:172165651 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.1042C>T (p.Leu348Phe) single nucleotide variant not provided [RCV001915036] Chr3:172445220 [GRCh38]
Chr3:172163010 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.499A>T (p.Ile167Phe) single nucleotide variant not provided [RCV001912672] Chr3:172447915 [GRCh38]
Chr3:172165705 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) copy number gain not specified [RCV002053382] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
NM_198407.2(GHSR):c.670C>G (p.Pro224Ala) single nucleotide variant not provided [RCV001947298] Chr3:172447744 [GRCh38]
Chr3:172165534 [GRCh37]
Chr3:3q26.31
uncertain significance
GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3 copy number gain not provided [RCV001827868] Chr3:168118411..179867071 [GRCh37]
Chr3:3q26.2-26.33
likely pathogenic
NM_198407.2(GHSR):c.545T>C (p.Val182Ala) single nucleotide variant Short stature due to growth hormone secretagogue receptor deficiency [RCV001824197]|not specified [RCV002246538] Chr3:172447869 [GRCh38]
Chr3:172165659 [GRCh37]
Chr3:3q26.31
likely pathogenic|uncertain significance
NM_198407.2(GHSR):c.401T>C (p.Ile134Thr) single nucleotide variant not provided [RCV001986248] Chr3:172448013 [GRCh38]
Chr3:172165803 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.834del (p.Phe279fs) deletion not provided [RCV002002333] Chr3:172445428 [GRCh38]
Chr3:172163218 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.713A>G (p.Lys238Arg) single nucleotide variant not provided [RCV002006026] Chr3:172447701 [GRCh38]
Chr3:172165491 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.792G>A (p.Met264Ile) single nucleotide variant not provided [RCV001899102] Chr3:172447622 [GRCh38]
Chr3:172165412 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.384C>A (p.Tyr128Ter) single nucleotide variant not provided [RCV001993757] Chr3:172448030 [GRCh38]
Chr3:172165820 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.19A>G (p.Ser7Gly) single nucleotide variant not provided [RCV002016209] Chr3:172448395 [GRCh38]
Chr3:172166185 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.755C>T (p.Ser252Leu) single nucleotide variant not provided [RCV002046750] Chr3:172447659 [GRCh38]
Chr3:172165449 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.25G>A (p.Glu9Lys) single nucleotide variant not provided [RCV001879714] Chr3:172448389 [GRCh38]
Chr3:172166179 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.445C>A (p.Leu149Ile) single nucleotide variant not provided [RCV001979247] Chr3:172447969 [GRCh38]
Chr3:172165759 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.94G>T (p.Asp32Tyr) single nucleotide variant not provided [RCV002016004] Chr3:172448320 [GRCh38]
Chr3:172166110 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.612G>C (p.Ala204=) single nucleotide variant not provided [RCV002170025] Chr3:172447802 [GRCh38]
Chr3:172165592 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.816C>T (p.Phe272=) single nucleotide variant not provided [RCV002207263] Chr3:172445446 [GRCh38]
Chr3:172163236 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.135C>G (p.Gly45=) single nucleotide variant not provided [RCV002090518] Chr3:172448279 [GRCh38]
Chr3:172166069 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.1086T>A (p.Ser362=) single nucleotide variant not provided [RCV002116219] Chr3:172445176 [GRCh38]
Chr3:172162966 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.972C>T (p.Asn324=) single nucleotide variant not provided [RCV002112774] Chr3:172445290 [GRCh38]
Chr3:172163080 [GRCh37]
Chr3:3q26.31
likely benign
NM_198407.2(GHSR):c.75dup (p.Gly26fs) duplication Short stature due to growth hormone secretagogue receptor deficiency [RCV002244135] Chr3:172448338..172448339 [GRCh38]
Chr3:172166128..172166129 [GRCh37]
Chr3:3q26.31
uncertain significance
NM_198407.2(GHSR):c.87G>T (p.Ser29=) single nucleotide variant not provided [RCV002084440] Chr3:172448327 [GRCh38]
Chr3:172166117 [GRCh37]
Chr3:3q26.31
benign
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4267 AgrOrtholog
COSMIC GHSR COSMIC
Ensembl Genes ENSG00000121853 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000241256 ENTREZGENE
  ENSP00000241256.2 UniProtKB/Swiss-Prot
  ENSP00000395344 ENTREZGENE
  ENSP00000395344.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000241256 ENTREZGENE
  ENST00000241256.3 UniProtKB/Swiss-Prot
  ENST00000427970 ENTREZGENE
  ENST00000427970.1 UniProtKB/Swiss-Prot
GTEx ENSG00000121853 GTEx
HGNC ID HGNC:4267 ENTREZGENE
Human Proteome Map GHSR Human Proteome Map
InterPro 7tmA_GHSR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GHS-R/MTLR UniProtKB/Swiss-Prot
  GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2693 UniProtKB/Swiss-Prot
NCBI Gene 2693 ENTREZGENE
OMIM 601898 OMIM
  615925 OMIM
PANTHER PTHR24243:SF7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28677 PharmGKB
PRINTS GHSRECEPTOR UniProtKB/Swiss-Prot
  GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2T3X1_HUMAN UniProtKB/TrEMBL
  GHSR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96RJ7 ENTREZGENE
UniProt Secondary Q14D12 UniProtKB/Swiss-Prot
  Q6ISR8 UniProtKB/Swiss-Prot
  Q92848 UniProtKB/Swiss-Prot
  Q96RJ7 UniProtKB/Swiss-Prot