GHRL (ghrelin and obestatin prepropeptide) - Rat Genome Database

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Gene: GHRL (ghrelin and obestatin prepropeptide) Homo sapiens
Analyze
Symbol: GHRL
Name: ghrelin and obestatin prepropeptide
RGD ID: 730950
HGNC Page HGNC:18129
Description: Enables protein tyrosine kinase activator activity. Involved in several processes, including negative regulation of cytokine production; positive regulation of hormone secretion; and regulation of circadian sleep/wake cycle, sleep. Acts upstream of or within dendrite development and positive regulation of synapse assembly. Located in axon and extracellular space. Implicated in diabetic neuropathy; esophagus adenocarcinoma; morbid obesity; obesity; and type 2 diabetes mellitus. Biomarker of Prader-Willi syndrome; cardiovascular system disease; and end stage renal disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: appetite-regulating hormone; ghrelin precursor; ghrelin, growth hormone secretagogue receptor ligand; ghrelin/obestatin preprohormone; ghrelin/obestatin prepropeptide; growth hormone secretagogue; growth hormone-releasing peptide; In2c-preproghrelin; motilin-related peptide; MTLRP; obestatin; prepro-appetite regulatory hormone; preproghrelin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW443_H BW454_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38310,285,666 - 10,292,947 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl310,285,666 - 10,292,947 (-)EnsemblGRCh38hg38GRCh38
GRCh37310,327,350 - 10,334,631 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36310,302,434 - 10,307,409 (-)NCBINCBI36Build 36hg18NCBI36
Build 34310,302,433 - 10,307,409NCBI
Celera310,263,242 - 10,270,439 (-)NCBICelera
Cytogenetic Map3p25.3NCBI
HuRef310,262,844 - 10,269,999 (-)NCBIHuRef
CHM1_1310,277,571 - 10,284,767 (-)NCBICHM1_1
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-anisomycin  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atropine  (ISO)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
capsaicin  (ISO)
capsazepine  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cisplatin  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cysteamine  (ISO)
D-glucose  (EXP)
dexamethasone  (ISO)
dexloxiglumide  (EXP)
dextran sulfate  (ISO)
dopamine  (ISO)
doxorubicin  (ISO)
famotidine  (ISO)
flavonoids  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
furan  (ISO)
glucose  (EXP)
histamine  (ISO)
homoeriodictyol  (EXP)
indometacin  (ISO)
isoprenaline  (ISO)
lipopolysaccharide  (ISO)
malonaldehyde  (ISO)
mercaptopurine  (ISO)
metformin  (ISO)
methylmercury chloride  (ISO)
monosodium L-glutamate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
olanzapine  (ISO)
oleanolic acid  (ISO)
orlistat  (EXP)
ozone  (ISO)
paraquat  (EXP)
pentobarbital  (ISO)
pirinixic acid  (ISO)
prostaglandin E2  (ISO)
prostaglandins E  (EXP)
prostaglandins F  (EXP)
purine-6-thiol  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
ruthenium red  (ISO)
serotonin  (ISO)
sodium arsenite  (EXP,ISO)
sodium disulfite  (ISO)
Sodium oleate  (EXP)
streptozocin  (ISO)
testosterone  (ISO)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP,ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
uranium atom  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin polymerization or depolymerization  (IDA)
adult feeding behavior  (ISS)
cartilage development  (NAS)
cortisol secretion  (NAS)
decidualization  (IDA)
dendrite development  (IDA,IEA)
excitatory postsynaptic potential  (IEA,ISO)
G protein-coupled receptor signaling pathway  (IEA,ISS,TAS)
gastric acid secretion  (IBA,IEA)
glucose metabolic process  (NAS)
growth hormone secretion  (TAS)
hormone-mediated signaling pathway  (TAS)
negative regulation of angiogenesis  (NAS)
negative regulation of apoptotic process  (IDA,IEA)
negative regulation of circadian sleep/wake cycle, REM sleep  (IDA)
negative regulation of endothelial cell proliferation  (IDA)
negative regulation of inflammatory response  (IBA,IDA)
negative regulation of insulin secretion  (IEA,ISO)
negative regulation of interleukin-1 beta production  (IDA,IEA,ISO)
negative regulation of interleukin-6 production  (IDA)
negative regulation of locomotion  (IEA,ISO)
negative regulation of tumor necrosis factor production  (IDA,IEA,ISO)
positive regulation of adipose tissue development  (IEA,ISO)
positive regulation of appetite  (IEA,ISO,ISS)
positive regulation of bone development  (IEA,ISO)
positive regulation of circadian sleep/wake cycle, non-REM sleep  (IDA)
positive regulation of cold-induced thermogenesis  (IEA,ISS)
positive regulation of corticotropin secretion  (IDA)
positive regulation of cortisol secretion  (IDA)
positive regulation of cytosolic calcium ion concentration  (IEA,ISS)
positive regulation of eating behavior  (IEA,ISO)
positive regulation of feeding behavior  (IEA,ISO)
positive regulation of gastric mucosal blood circulation  (IEA,ISO)
positive regulation of gastro-intestinal system smooth muscle contraction  (IEA,ISO)
positive regulation of growth  (IEA,ISO)
positive regulation of growth hormone receptor signaling pathway  (IC)
positive regulation of growth hormone secretion  (IBA,IDA,IEA)
positive regulation of growth rate  (IEA,ISO)
positive regulation of insulin secretion  (IEA,ISS)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (IEA,ISO)
positive regulation of MAPK cascade  (IMP)
positive regulation of multicellular organism growth  (IC)
positive regulation of response to food  (IEA,ISO)
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 synapse assembly  (IDA,IEA)
positive regulation of vascular endothelial cell proliferation  (IEA,ISO)
postsynaptic modulation of chemical synaptic transmission  (IEA)
regulation of cell population proliferation  (IDA)
regulation of gastric motility  (IEA,ISO)
regulation of postsynapse organization  (IEA)
regulation of response to food  (IBA,IEA,ISO)
regulation of transmission of nerve impulse  (IEA,ISO)
response to electrical stimulus  (IEA,ISO)
response to estrogen  (IDA)
response to hormone  (IDA)
response to nutrient levels  (IEA,ISO)
signal transduction  (IEA)
synapse assembly  (IEA,ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Ghrelin and other appetite-regulating hormones in paediatric patients with chronic renal failure during dialysis and following kidney transplantation. Arbeiter AK, etal., Nephrol Dial Transplant. 2009 Feb;24(2):643-6. doi: 10.1093/ndt/gfn529. Epub 2008 Sep 22.
2. The Leu72Met polymorphism of the ghrelin gene is associated with a decreased risk for type 2 diabetes. Berthold HK, etal., Clin Chim Acta. 2009 Jan;399(1-2):112-6. Epub 2008 Sep 25.
3. Maintenance of a normal meal-induced decrease in plasma ghrelin levels in children with Prader-Willi syndrome. Bizzarri C, etal., Horm Metab Res. 2004 Mar;36(3):164-9.
4. Low serum acylated ghrelin levels are associated with the development of cardiovascular disease in hemodialysis patients. Chou CC, etal., Intern Med. 2010;49(19):2057-64. Epub 2010 Oct 1.
5. Ghrelin restores 'lean-type' hunger and energy expenditure profiles in morbidly obese subjects but has no effect on postgastrectomy subjects. Huda MS, etal., Int J Obes (Lond). 2009 Mar;33(3):317-25. Epub 2009 Feb 3.
6. 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.
7. Ghrelin plasma levels in patients with idiopathic short stature. Iñiguez G, etal., Horm Res Paediatr. 2011 Feb;75(2):94-100. doi: 10.1159/000317429. Epub 2010 Sep 23.
8. Ghrelin: structure and function. Kojima M and Kangawa K, Physiol Rev. 2005 Apr;85(2):495-522.
9. Comparison of maternal ghrelin and leptin in healthy mothers and mothers with Type 1 diabetes. Kos K, etal., Diabet Med. 2008 Dec;25(12):1400-5.
10. Ghrelin reverses experimental diabetic neuropathy in mice. Kyoraku I, etal., Biochem Biophys Res Commun. 2009 Nov 20;389(3):405-8. Epub 2009 Sep 3.
11. Fasting serum total ghrelin level inversely correlates with metabolic syndrome in hemodialysis patients. Lee CC, etal., Arch Med Res. 2008 Nov;39(8):785-90.
12. Fasting serum ghrelin level is associated with metabolic syndrome in peritoneal dialysis patients. Lee CJ, etal., Perit Dial Int. 2008 Jun;28 Suppl 3:S196-200.
13. 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.
14. Genetic association analysis of 30 genes related to obesity in a European American population. Li P, etal., Int J Obes (Lond). 2014 May;38(5):724-9. doi: 10.1038/ijo.2013.140. Epub 2013 Jul 31.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
17. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. Increased plasma ghrelin level in lung cancer cachexia. Shimizu Y, etal., Clin Cancer Res. 2003 Feb;9(2):774-8.
20. Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish. Steinle NI, etal., J Clin Endocrinol Metab. 2005 Dec;90(12):6672-7. Epub 2005 Oct 4.
21. 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.
22. Suppression of experimental autoimmune encephalomyelitis by ghrelin. Theil MM, etal., J Immunol. 2009 Aug 15;183(4):2859-66. doi: 10.4049/jimmunol.0803362. Epub 2009 Jul 20.
23. Plasma ghrelin concentrations in different clinical stages of diabetic complications and glycemic control in Japanese diabetics. Ueno H, etal., Endocr J. 2007 Dec;54(6):895-902. Epub 2007 Nov 16.
24. Role of ghrelin in the relationship between hyperphagia and accelerated gastric emptying in diabetic mice. Verhulst PJ, etal., Gastroenterology. 2008 Oct;135(4):1267-76. Epub 2008 Jun 25.
25. Ghrelin protects mice against endotoxemia-induced acute kidney injury. Wang W, etal., Am J Physiol Renal Physiol. 2009 Oct;297(4):F1032-7. doi: 10.1152/ajprenal.00044.2009. Epub 2009 Jul 22.
26. 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.
27. Association between polymorphisms in cancer-related genes and early onset of esophageal adenocarcinoma. Wu IC, etal., Neoplasia. 2011 Apr;13(4):386-92. doi: 10.1593/neo.101722.
28. 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.
29. 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.
30. [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.
31. 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.
Additional References at PubMed
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PMID:20185531   PMID:20188316   PMID:20194708   PMID:20195769   PMID:20298456   PMID:20338210   PMID:20339027   PMID:20367557   PMID:20376885   PMID:20379614   PMID:20382189   PMID:20411479  
PMID:20421852   PMID:20453000   PMID:20466571   PMID:20468064   PMID:20472480   PMID:20503481   PMID:20509935   PMID:20517652   PMID:20537572   PMID:20553778   PMID:20580037   PMID:20581789  
PMID:20585204   PMID:20586762   PMID:20595321   PMID:20602615   PMID:20616368   PMID:20628086   PMID:20688108   PMID:20734064   PMID:20734087   PMID:20804798   PMID:20813143   PMID:20858966  
PMID:20920174   PMID:20921904   PMID:20945961   PMID:20963666   PMID:21040709   PMID:21047193   PMID:21050078   PMID:21075359   PMID:21113212   PMID:21121713   PMID:21165813   PMID:21169422  
PMID:21176234   PMID:21178976   PMID:21195705   PMID:21225542   PMID:21274325   PMID:21274374   PMID:21294754   PMID:21318058   PMID:21340501   PMID:21345363   PMID:21349316   PMID:21354462  
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PMID:22180062   PMID:22252944   PMID:22260823   PMID:22300359   PMID:22306927   PMID:22311236   PMID:22315469   PMID:22366529   PMID:22369141   PMID:22441120   PMID:22442280   PMID:22477150  
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PMID:23142314   PMID:23147274   PMID:23179778   PMID:23199168   PMID:23257416   PMID:23257630   PMID:23259466   PMID:23292319   PMID:23296465   PMID:23313276   PMID:23321590   PMID:23333252  
PMID:23391977   PMID:23415825   PMID:23430445   PMID:23485550   PMID:23489688   PMID:23501042   PMID:23509106   PMID:23524619   PMID:23567762   PMID:23571102   PMID:23584608   PMID:23632965  
PMID:23652420   PMID:23702397   PMID:23724093   PMID:23728548   PMID:23744005   PMID:23744028   PMID:23768444   PMID:23804549   PMID:23806576   PMID:23816797   PMID:23865468   PMID:23867619  
PMID:23950037   PMID:23964904   PMID:23971025   PMID:23981480   PMID:23994275   PMID:24001751   PMID:24011638   PMID:24012997   PMID:24083436   PMID:24098650   PMID:24106000   PMID:24111557  
PMID:24132517   PMID:24147986   PMID:24155252   PMID:24184592   PMID:24190680   PMID:24194510   PMID:24217898   PMID:24240664   PMID:24260344   PMID:24285677   PMID:24287118   PMID:24302008  
PMID:24333655   PMID:24341728   PMID:24350300   PMID:24365237   PMID:24367126   PMID:24381790   PMID:24388883   PMID:24388886   PMID:24415571   PMID:24433403   PMID:24438371   PMID:24465706  
PMID:24508379   PMID:24604119   PMID:24619886   PMID:24637892   PMID:24643690   PMID:24671339   PMID:24728171   PMID:24760977   PMID:24806082   PMID:24809812   PMID:24824706   PMID:24845415  
PMID:24858413   PMID:24875659   PMID:24919551   PMID:24922633   PMID:25068948   PMID:25095788   PMID:25105727   PMID:25127083   PMID:25141321   PMID:25152618   PMID:25200304   PMID:25217306  
PMID:25223427   PMID:25257375   PMID:25257829   PMID:25273611   PMID:25355237   PMID:25361054   PMID:25376984   PMID:25399301   PMID:25416956   PMID:25436282   PMID:25459900   PMID:25524946  
PMID:25568079   PMID:25671547   PMID:25737012   PMID:25782001   PMID:25833030   PMID:25837320   PMID:25849925   PMID:25868387   PMID:25870965   PMID:25925728   PMID:25951715   PMID:25987348  
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PMID:28597412   PMID:28625043   PMID:28653238   PMID:28851363   PMID:28899534   PMID:29102924   PMID:29129986   PMID:29136100   PMID:29221937   PMID:29230615   PMID:29272342   PMID:29307107  
PMID:29320365   PMID:29375043   PMID:29391762   PMID:29395244   PMID:29412824   PMID:29412827   PMID:29458391   PMID:29506551   PMID:29524402   PMID:29566446   PMID:29694945   PMID:29729162  
PMID:29940599   PMID:29963901   PMID:29980850   PMID:30019280   PMID:30131073   PMID:30177523   PMID:30206250   PMID:30272367   PMID:30275385   PMID:30286482   PMID:30326460   PMID:30375294  
PMID:30447166   PMID:30602159   PMID:30615902   PMID:30696312   PMID:30878306   PMID:30927520   PMID:31121263   PMID:31311066   PMID:31411179   PMID:31434007   PMID:31472067   PMID:31750884  
PMID:31758299   PMID:31770106   PMID:31784591   PMID:31830702   PMID:31885187   PMID:32107057   PMID:32133882   PMID:32218464   PMID:32296183   PMID:32371087   PMID:32537654   PMID:32564394  
PMID:32583136   PMID:32590738   PMID:32667288   PMID:32698854   PMID:32788622   PMID:32814772   PMID:32845924   PMID:32921167   PMID:33184761   PMID:33263557   PMID:33373270   PMID:33402915  
PMID:33456602   PMID:33565472   PMID:33647468   PMID:33745575   PMID:33857472   PMID:33865521   PMID:33888052   PMID:33916403   PMID:33935112   PMID:33961781   PMID:33991145   PMID:34024815  
PMID:34101246   PMID:34122616   PMID:34146741   PMID:34174062   PMID:34245869   PMID:34255835   PMID:34273273   PMID:34391825   PMID:34437712   PMID:34459781   PMID:34529585   PMID:34533592  
PMID:34638910   PMID:34643713   PMID:34648911   PMID:34728253   PMID:34767797   PMID:34769125   PMID:34823917   PMID:35016882   PMID:35182895   PMID:35238278   PMID:35302184   PMID:35446515  
PMID:35569641   PMID:35575683   PMID:35611412   PMID:35631243   PMID:35678263   PMID:35883173   PMID:36076912   PMID:36088864   PMID:36136948   PMID:36235843   PMID:36543283   PMID:36740132  
PMID:36762339   PMID:37237241   PMID:37715984   PMID:37735188   PMID:38127688   PMID:38771494   PMID:39113612  


Genomics

Comparative Map Data
GHRL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38310,285,666 - 10,292,947 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl310,285,666 - 10,292,947 (-)EnsemblGRCh38hg38GRCh38
GRCh37310,327,350 - 10,334,631 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36310,302,434 - 10,307,409 (-)NCBINCBI36Build 36hg18NCBI36
Build 34310,302,433 - 10,307,409NCBI
Celera310,263,242 - 10,270,439 (-)NCBICelera
Cytogenetic Map3p25.3NCBI
HuRef310,262,844 - 10,269,999 (-)NCBIHuRef
CHM1_1310,277,571 - 10,284,767 (-)NCBICHM1_1
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBIT2T-CHM13v2.0
Ghrl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396113,693,080 - 113,696,872 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6113,693,080 - 113,696,841 (-)EnsemblGRCm39 Ensembl
GRCm386113,716,119 - 113,719,911 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6113,716,119 - 113,719,880 (-)EnsemblGRCm38mm10GRCm38
MGSCv376113,666,113 - 113,669,874 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366113,681,896 - 113,685,657 (-)NCBIMGSCv36mm8
Celera6115,541,628 - 115,545,391 (-)NCBICelera
Cytogenetic Map6E3NCBI
cM Map652.84NCBI
Ghrl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84148,421,315 - 148,431,128 (-)NCBIGRCr8
mRatBN7.24146,865,712 - 146,869,621 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4146,865,712 - 146,869,621 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4152,250,366 - 152,254,274 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04148,031,237 - 148,035,145 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04146,659,480 - 146,663,373 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04145,674,157 - 145,678,066 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4145,674,157 - 145,678,066 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04208,969,963 - 208,976,778 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44149,622,566 - 149,628,111 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14149,867,406 - 149,872,952 (-)NCBI
Celera4135,420,041 - 135,423,946 (-)NCBICelera
Cytogenetic Map4q42NCBI
Ghrl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555611,676,576 - 1,681,812 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555611,676,475 - 1,682,205 (-)NCBIChiLan1.0ChiLan1.0
GHRL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2210,281,654 - 10,288,926 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1310,286,078 - 10,301,544 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0310,221,829 - 10,229,229 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1310,573,537 - 10,580,723 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl310,573,537 - 10,580,723 (-)Ensemblpanpan1.1panPan2
GHRL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1208,092,921 - 8,097,512 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl208,092,957 - 8,097,510 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha208,127,316 - 8,131,869 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0208,122,116 - 8,127,217 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl208,122,662 - 8,127,215 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1207,844,540 - 7,849,093 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0208,190,266 - 8,194,819 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0208,163,907 - 8,168,460 (+)NCBIUU_Cfam_GSD_1.0
Ghrl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494215,867,085 - 15,872,024 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366023,038,549 - 3,042,506 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366023,037,862 - 3,044,863 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GHRL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1366,445,992 - 66,452,917 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11366,442,106 - 66,453,576 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21373,453,082 - 73,480,182 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap13q31NCBI
GHRL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12246,326,458 - 46,332,906 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2246,325,913 - 46,330,962 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041120,205,064 - 120,210,786 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ghrl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247315,257,830 - 5,262,473 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247315,257,813 - 5,262,878 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GHRL
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GHRL, 2-BP DEL, CODON 34 deletion GHRELIN POLYMORPHISM [RCV000005367] Chr3:3p26-p25 benign
NM_016362.5(GHRL):c.269A>T (p.Gln90Leu) single nucleotide variant Obesity [RCV000023422]|not provided [RCV001723541] Chr3:10286769 [GRCh38]
Chr3:10328453 [GRCh37]
Chr3:3p25.3		 risk factor|benign
NM_016362.5(GHRL):c.152G>A (p.Arg51Gln) single nucleotide variant Metabolic syndrome, susceptibility to [RCV000005364]|Obesity [RCV000033194] Chr3:10289835 [GRCh38]
Chr3:10331519 [GRCh37]
Chr3:3p25.3		 risk factor
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) single nucleotide variant Metabolic syndrome, susceptibility to [RCV000005366]|Obesity [RCV002482831]|Obesity, age at onset of [RCV000005365]|not provided [RCV001618208] Chr3:10289773 [GRCh38]
Chr3:10331457 [GRCh37]
Chr3:3p25.3		 pathogenic|risk factor|benign|likely benign
GRCh38/hg38 3p25.3-25.2(chr3:8581778-12015238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|See cases [RCV000051480] Chr3:8581778..12015238 [GRCh38]
Chr3:8623464..12056738 [GRCh37]
Chr3:8598464..12031738 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1 copy number loss See cases [RCV000051506] Chr3:10019780..12251358 [GRCh38]
Chr3:10061464..12292857 [GRCh37]
Chr3:10036464..12267857 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1 copy number loss See cases [RCV000051447] Chr3:52266..11089569 [GRCh38]
Chr3:93949..11131255 [GRCh37]
Chr3:68949..11106255 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
NM_001134944.1(GHRL):c.310G>A (p.Asp104Asn) single nucleotide variant Malignant melanoma [RCV000065747] Chr3:10285883 [GRCh38]
Chr3:10327567 [GRCh37]
Chr3:10302567 [NCBI36]
Chr3:3p25.3		 not provided
GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4 copy number gain See cases [RCV000135641] Chr3:8038727..11240931 [GRCh38]
Chr3:8080414..11282617 [GRCh37]
Chr3:8055414..11257617 [NCBI36]
Chr3:3p26.1-25.3		 likely pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1 copy number loss See cases [RCV000137433] Chr3:9394874..11690612 [GRCh38]
Chr3:9436558..11732086 [GRCh37]
Chr3:9411558..11707086 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3 copy number gain See cases [RCV000137309] Chr3:7975734..12636917 [GRCh38]
Chr3:8017421..12678416 [GRCh37]
Chr3:7992421..12653416 [NCBI36]
Chr3:3p26.1-25.2		 likely pathogenic
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 copy number loss See cases [RCV000138143] Chr3:32241..12681483 [GRCh38]
Chr3:73914..12722982 [GRCh37]
Chr3:48914..12697982 [NCBI36]
Chr3:3p26.3-25.2		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1 copy number loss See cases [RCV000137755] Chr3:9875909..10572677 [GRCh38]
Chr3:9917593..10614361 [GRCh37]
Chr3:9892593..10589361 [NCBI36]
Chr3:3p25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1 copy number loss See cases [RCV000138376] Chr3:32241..11379835 [GRCh38]
Chr3:73914..11421309 [GRCh37]
Chr3:48914..11396309 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic|likely benign
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1 copy number loss See cases [RCV000141731] Chr3:20213..11221602 [GRCh38]
Chr3:61891..11263288 [GRCh37]
Chr3:36891..11238288 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p25.3(chr3:10220962-11165449)x1 copy number loss See cases [RCV000143098] Chr3:10220962..11165449 [GRCh38]
Chr3:10262646..11207135 [GRCh37]
Chr3:10237646..11182135 [NCBI36]
Chr3:3p25.3		 uncertain significance
GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1 copy number loss See cases [RCV000143325] Chr3:32241..10323124 [GRCh38]
Chr3:73914..10364808 [GRCh37]
Chr3:48914..10339808 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1 copy number loss See cases [RCV000143173] Chr3:32241..10631310 [GRCh38]
Chr3:73914..10672995 [GRCh37]
Chr3:48914..10647995 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 copy number gain See cases [RCV000143766] Chr3:7356110..14360442 [GRCh38]
Chr3:7397797..14401942 [GRCh37]
Chr3:7372797..14376946 [NCBI36]
Chr3:3p26.1-25.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1 copy number loss See cases [RCV000143706] Chr3:688897..11051142 [GRCh38]
Chr3:730581..11092828 [GRCh37]
Chr3:705581..11067828 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1 copy number loss See cases [RCV000240139] Chr3:8922160..12338637 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1 copy number loss See cases [RCV000511155] Chr3:61891..12575409 [GRCh37]
Chr3:3p26.3-25.2		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 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 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3		 pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3		 pathogenic
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
Single allele duplication Neurodevelopmental disorder [RCV000787461] Chr3:9453917..12015126 [GRCh37]
Chr3:3p25.3-25.2		 uncertain significance
GRCh37/hg19 3p25.3(chr3:10325353-10509129)x3 copy number gain not provided [RCV000846979] Chr3:10325353..10509129 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_016362.5(GHRL):c.109-36G>A single nucleotide variant not provided [RCV001681651] Chr3:10289914 [GRCh38]
Chr3:10331598 [GRCh37]
Chr3:3p25.3		 benign
NM_016362.5(GHRL):c.176C>T (p.Pro59Leu) single nucleotide variant not provided [RCV001354363]|not specified [RCV004036705] Chr3:10289811 [GRCh38]
Chr3:10331495 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_016362.5(GHRL):c.-787C>T single nucleotide variant not provided [RCV004598895] Chr3:10292863 [GRCh38]
Chr3:10334547 [GRCh37]
Chr3:3p25.3		 likely benign
NM_016362.5(GHRL):c.226-286C>T single nucleotide variant not provided [RCV001528034] Chr3:10287098 [GRCh38]
Chr3:10328782 [GRCh37]
Chr3:3p25.3		 benign
NM_016362.5(GHRL):c.226-313A>G single nucleotide variant not provided [RCV001674633] Chr3:10287125 [GRCh38]
Chr3:10328809 [GRCh37]
Chr3:3p25.3		 benign
NM_016362.5(GHRL):c.334+138T>G single nucleotide variant not provided [RCV001667932] Chr3:10286566 [GRCh38]
Chr3:10286566..10286567 [GRCh38]
Chr3:10328250 [GRCh37]
Chr3:10328250..10328251 [GRCh37]
Chr3:3p25.3		 benign
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
NC_000003.11:g.(?_7782024)_(11078652_?)dup duplication Atrioventricular septal defect, susceptibility to, 2 [RCV001875165] Chr3:7782024..11078652 [GRCh37]
Chr3:3p26.1-25.3		 uncertain significance
NC_000003.11:g.(?_10094051)_(11078652_?)del deletion Myoclonic-astatic epilepsy [RCV003444370] Chr3:10094051..11078652 [GRCh37]
Chr3:3p25.3		 pathogenic
NM_016362.5(GHRL):c.255del (p.Lys85fs) deletion Obesity [RCV002266788] Chr3:10286783 [GRCh38]
Chr3:10328467 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_016362.5(GHRL):c.107A>G (p.Gln36Arg) single nucleotide variant not specified [RCV004308912] Chr3:10290074 [GRCh38]
Chr3:10331758 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1 copy number loss not provided [RCV002473616] Chr3:61892..11679509 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3 copy number gain not provided [RCV002468435] Chr3:60931..10687964 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:10024917-11917048)x1 copy number loss not provided [RCV002472495] Chr3:10024917..11917048 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
NM_016362.5(GHRL):c.265G>A (p.Val89Ile) single nucleotide variant not specified [RCV004240932] Chr3:10286773 [GRCh38]
Chr3:10328457 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_016362.5(GHRL):c.239T>C (p.Phe80Ser) single nucleotide variant not specified [RCV004221282] Chr3:10286799 [GRCh38]
Chr3:10328483 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_016362.5(GHRL):c.314T>A (p.Ile105Asn) single nucleotide variant not specified [RCV004168092] Chr3:10286724 [GRCh38]
Chr3:10328408 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_016362.5(GHRL):c.-771G>A single nucleotide variant not specified [RCV004274614] Chr3:10292847 [GRCh38]
Chr3:10334531 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1 copy number loss See cases [RCV003329496] Chr3:10167260..12533766 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
NM_016362.5(GHRL):c.83T>C (p.Leu28Pro) single nucleotide variant not specified [RCV004344362] Chr3:10290098 [GRCh38]
Chr3:10331782 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_016362.5(GHRL):c.225+2T>G single nucleotide variant not provided [RCV003433426] Chr3:10289760 [GRCh38]
Chr3:10331444 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1		 pathogenic
GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3 copy number gain not provided [RCV003484118] Chr3:9655252..10332544 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1 copy number loss not specified [RCV003986402] Chr3:6306331..11468530 [GRCh37]
Chr3:3p26.1-25.3		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_016362.5(GHRL):c.173G>A (p.Arg58His) single nucleotide variant not specified [RCV004390568] Chr3:10289814 [GRCh38]
Chr3:10331498 [GRCh37]
Chr3:3p25.3		 likely benign
NM_016362.5(GHRL):c.202G>T (p.Ala68Ser) single nucleotide variant not specified [RCV004390569] Chr3:10289785 [GRCh38]
Chr3:10331469 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_016362.5(GHRL):c.101G>C (p.Arg34Thr) single nucleotide variant not specified [RCV004390566] Chr3:10290080 [GRCh38]
Chr3:10331764 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 copy number gain not provided [RCV004577500] Chr3:60000..34461438 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_016362.5(GHRL):c.167G>T (p.Trp56Leu) single nucleotide variant not specified [RCV004390567] Chr3:10289820 [GRCh38]
Chr3:10331504 [GRCh37]
Chr3:3p25.3		 uncertain significance
NC_000003.11:g.(?_9703931)_(11078652_?)del deletion Myoclonic-atonic epilepsy [RCV004582222] Chr3:9703931..11078652 [GRCh37]
Chr3:3p25.3		 pathogenic
NC_000003.11:g.(?_9470623)_(11078652_?)dup duplication not provided [RCV004582249] Chr3:9470623..11078652 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_016362.5(GHRL):c.280C>G (p.His94Asp) single nucleotide variant not specified [RCV004627039] Chr3:10286758 [GRCh38]
Chr3:10328442 [GRCh37]
Chr3:3p25.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2584
Count of miRNA genes:486
Interacting mature miRNAs:530
Transcripts:ENST00000287656, ENST00000335542, ENST00000422159, ENST00000425479, ENST00000429122, ENST00000430179, ENST00000437422, ENST00000439975, ENST00000446937, ENST00000449238, ENST00000449554, ENST00000450603, ENST00000457360, ENST00000475759, ENST00000476283, ENST00000481287, ENST00000491589
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407362951GWAS1011927_Hghrelin measurement QTL GWAS1011927 (human)5e-126ghrelin measurement31028858210288583Human
407362950GWAS1011926_Hghrelin measurement QTL GWAS1011926 (human)1e-142ghrelin measurement31028983510289836Human
407362961GWAS1011937_Hghrelin measurement QTL GWAS1011937 (human)7e-24ghrelin measurement31028913810289139Human
407383616GWAS1032592_Hghrelin measurement QTL GWAS1032592 (human)3e-08ghrelin measurement31028858210288583Human
407363230GWAS1012206_Hghrelin measurement QTL GWAS1012206 (human)4e-16ghrelin measurement31028769310287694Human
2316345GLUCO224_HGlucose level QTL 224 (human)1.270.008Glucose level3121543441Human
407363228GWAS1012204_Hghrelin measurement QTL GWAS1012204 (human)1e-16ghrelin measurement31028656610286567Human
407363227GWAS1012203_Hghrelin measurement QTL GWAS1012203 (human)1e-16ghrelin measurement31028888010288881Human
407362953GWAS1011929_Hghrelin measurement QTL GWAS1011929 (human)6e-36ghrelin measurement31028676910286770Human
407363225GWAS1012201_Hghrelin measurement QTL GWAS1012201 (human)5e-17ghrelin measurement31028709810287099Human

Markers in Region
SHGC-34896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37310,327,280 - 10,327,429UniSTSGRCh37
Build 36310,302,280 - 10,302,429RGDNCBI36
Celera310,263,088 - 10,263,237RGD
Cytogenetic Map3p26-p25UniSTS
Cytogenetic Map3p25.3UniSTS
HuRef310,262,690 - 10,262,839UniSTS
GeneMap99-GB4 RH Map349.54UniSTS
Whitehead-RH Map356.8UniSTS
NCBI RH Map3132.9UniSTS
GeneMap99-G3 RH Map38645.0UniSTS
RH36438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37310,334,901 - 10,335,091UniSTSGRCh37
Build 36310,309,901 - 10,310,091RGDNCBI36
Celera310,270,709 - 10,270,899RGD
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p26-p25UniSTS
HuRef310,270,269 - 10,270,459UniSTS
GeneMap99-GB4 RH Map357.15UniSTS
NCBI RH Map3132.9UniSTS
G72355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37310,332,272 - 10,332,779UniSTSGRCh37
Build 36310,307,272 - 10,307,779RGDNCBI36
Celera310,268,080 - 10,268,587RGD
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p26-p25UniSTS
HuRef310,267,640 - 10,268,147UniSTS
G72347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37310,331,405 - 10,331,911UniSTSGRCh37
Build 36310,306,405 - 10,306,911RGDNCBI36
Celera310,267,213 - 10,267,719RGD
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p26-p25UniSTS
HuRef310,266,773 - 10,267,279UniSTS
G72348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37310,328,049 - 10,328,537UniSTSGRCh37
Build 36310,303,049 - 10,303,537RGDNCBI36
Celera310,263,857 - 10,264,345RGD
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p26-p25UniSTS
HuRef310,263,459 - 10,263,906UniSTS
G72349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37310,327,244 - 10,327,673UniSTSGRCh37
Build 36310,302,244 - 10,302,673RGDNCBI36
Celera310,263,052 - 10,263,481RGD
Cytogenetic Map3p26-p25UniSTS
Cytogenetic Map3p25.3UniSTS
HuRef310,262,654 - 10,263,083UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1203 2428 2778 2239 4934 1717 2333 4 621 1946 462 2260 7257 6444 51 3707 1 847 1732 1602 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_033090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001134941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001134944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001134945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001134946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001302825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_126505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB029434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB035700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF296558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ252278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX062356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX154581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX356127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY184207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY701846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM854032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ864724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ864725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ864726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ864727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF139854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF139855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF139856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF139857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF549575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU072083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU072084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU072085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU072086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU072087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU942497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC084376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC084384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN243773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF921297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC780779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC780780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC780781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000287656   ⟹   ENSP00000287656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,754 - 10,292,917 (-)Ensembl
Ensembl Acc Id: ENST00000335542   ⟹   ENSP00000335074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,666 - 10,292,947 (-)Ensembl
Ensembl Acc Id: ENST00000422159   ⟹   ENSP00000405464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,751 - 10,290,212 (-)Ensembl
Ensembl Acc Id: ENST00000425479   ⟹   ENSP00000405031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,290,080 - 10,292,938 (-)Ensembl
Ensembl Acc Id: ENST00000429122   ⟹   ENSP00000414819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,754 - 10,292,933 (-)Ensembl
Ensembl Acc Id: ENST00000430179   ⟹   ENSP00000399922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,750 - 10,292,917 (-)Ensembl
Ensembl Acc Id: ENST00000437422   ⟹   ENSP00000416768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,754 - 10,292,917 (-)Ensembl
Ensembl Acc Id: ENST00000439975   ⟹   ENSP00000403725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,754 - 10,292,917 (-)Ensembl
Ensembl Acc Id: ENST00000446937   ⟹   ENSP00000394923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,754 - 10,292,917 (-)Ensembl
Ensembl Acc Id: ENST00000449238   ⟹   ENSP00000388145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,754 - 10,292,917 (-)Ensembl
Ensembl Acc Id: ENST00000457360   ⟹   ENSP00000391406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,754 - 10,292,917 (-)Ensembl
Ensembl Acc Id: ENST00000475759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,813 - 10,289,807 (-)Ensembl
Ensembl Acc Id: ENST00000476283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,813 - 10,289,807 (-)Ensembl
Ensembl Acc Id: ENST00000481287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,750 - 10,290,357 (-)Ensembl
Ensembl Acc Id: ENST00000491589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,285,750 - 10,290,914 (-)Ensembl
RefSeq Acc Id: NM_001134941   ⟹   NP_001128413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,285,666 - 10,292,947 (-)NCBI
GRCh37310,327,434 - 10,334,631 (-)ENTREZGENE
HuRef310,262,844 - 10,269,999 (-)ENTREZGENE
CHM1_1310,277,571 - 10,284,767 (-)NCBI
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001134944   ⟹   NP_001128416
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,285,666 - 10,292,947 (-)NCBI
GRCh37310,327,434 - 10,334,631 (-)ENTREZGENE
HuRef310,262,844 - 10,269,999 (-)ENTREZGENE
CHM1_1310,277,571 - 10,284,767 (-)NCBI
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001134945   ⟹   NP_001128417
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,285,666 - 10,292,947 (-)NCBI
GRCh37310,327,434 - 10,334,631 (-)ENTREZGENE
HuRef310,262,844 - 10,269,999 (-)ENTREZGENE
CHM1_1310,277,571 - 10,284,767 (-)NCBI
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001134946   ⟹   NP_001128418
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,285,666 - 10,292,947 (-)NCBI
GRCh37310,327,434 - 10,334,631 (-)ENTREZGENE
HuRef310,262,844 - 10,269,999 (-)ENTREZGENE
CHM1_1310,277,571 - 10,284,767 (-)NCBI
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001302821   ⟹   NP_001289750
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,285,666 - 10,292,947 (-)NCBI
CHM1_1310,277,571 - 10,284,767 (-)NCBI
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001302822   ⟹   NP_001289751
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,285,666 - 10,292,947 (-)NCBI
CHM1_1310,277,571 - 10,284,767 (-)NCBI
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001302823   ⟹   NP_001289752
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,285,666 - 10,292,947 (-)NCBI
CHM1_1310,277,571 - 10,284,767 (-)NCBI
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001302824   ⟹   NP_001289753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,285,666 - 10,292,947 (-)NCBI
CHM1_1310,277,571 - 10,284,767 (-)NCBI
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001302825   ⟹   NP_001289754
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,285,666 - 10,292,947 (-)NCBI
CHM1_1310,277,571 - 10,284,767 (-)NCBI
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016362   ⟹   NP_057446
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,285,666 - 10,292,947 (-)NCBI
GRCh37310,327,434 - 10,334,631 (-)ENTREZGENE
Build 36310,302,434 - 10,307,409 (-)NCBI Archive
HuRef310,262,844 - 10,269,999 (-)ENTREZGENE
CHM1_1310,277,571 - 10,284,767 (-)NCBI
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBI
Sequence:
RefSeq Acc Id: NR_126505
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,285,666 - 10,292,947 (-)NCBI
CHM1_1310,277,571 - 10,284,767 (-)NCBI
T2T-CHM13v2.0310,278,965 - 10,286,246 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001128413 (Get FASTA)   NCBI Sequence Viewer  
  NP_001128416 (Get FASTA)   NCBI Sequence Viewer  
  NP_001128417 (Get FASTA)   NCBI Sequence Viewer  
  NP_001128418 (Get FASTA)   NCBI Sequence Viewer  
  NP_001289750 (Get FASTA)   NCBI Sequence Viewer  
  NP_001289751 (Get FASTA)   NCBI Sequence Viewer  
  NP_001289752 (Get FASTA)   NCBI Sequence Viewer  
  NP_001289753 (Get FASTA)   NCBI Sequence Viewer  
  NP_001289754 (Get FASTA)   NCBI Sequence Viewer  
  NP_057446 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG10300 (Get FASTA)   NCBI Sequence Viewer  
  AAH25791 (Get FASTA)   NCBI Sequence Viewer  
  AAO27351 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89412 (Get FASTA)   NCBI Sequence Viewer  
  AAU93610 (Get FASTA)   NCBI Sequence Viewer  
  ABN09830 (Get FASTA)   NCBI Sequence Viewer  
  ABN09831 (Get FASTA)   NCBI Sequence Viewer  
  ABN09832 (Get FASTA)   NCBI Sequence Viewer  
  ABN09833 (Get FASTA)   NCBI Sequence Viewer  
  ABQ40356 (Get FASTA)   NCBI Sequence Viewer  
  ABQ40357 (Get FASTA)   NCBI Sequence Viewer  
  ABQ40358 (Get FASTA)   NCBI Sequence Viewer  
  ABQ40359 (Get FASTA)   NCBI Sequence Viewer  
  ABQ40360 (Get FASTA)   NCBI Sequence Viewer  
  ABQ40361 (Get FASTA)   NCBI Sequence Viewer  
  ABQ40362 (Get FASTA)   NCBI Sequence Viewer  
  ABV55186 (Get FASTA)   NCBI Sequence Viewer  
  ABV55187 (Get FASTA)   NCBI Sequence Viewer  
  ABV55188 (Get FASTA)   NCBI Sequence Viewer  
  ABV55189 (Get FASTA)   NCBI Sequence Viewer  
  ABV55190 (Get FASTA)   NCBI Sequence Viewer  
  ADM33790 (Get FASTA)   NCBI Sequence Viewer  
  AEP25453 (Get FASTA)   NCBI Sequence Viewer  
  AIU94773 (Get FASTA)   NCBI Sequence Viewer  
  BAA89371 (Get FASTA)   NCBI Sequence Viewer  
  BAB19045 (Get FASTA)   NCBI Sequence Viewer  
  CAB65733 (Get FASTA)   NCBI Sequence Viewer  
  CAC25074 (Get FASTA)   NCBI Sequence Viewer  
  CAC42608 (Get FASTA)   NCBI Sequence Viewer  
  CAD23013 (Get FASTA)   NCBI Sequence Viewer  
  CBI12214 (Get FASTA)   NCBI Sequence Viewer  
  CBI12216 (Get FASTA)   NCBI Sequence Viewer  
  EAW64074 (Get FASTA)   NCBI Sequence Viewer  
  EAW64075 (Get FASTA)   NCBI Sequence Viewer  
  EAW64076 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000287656
  ENSP00000287656.7
  ENSP00000335074
  ENSP00000335074.8
  ENSP00000388145
  ENSP00000388145.2
  ENSP00000391406
  ENSP00000391406.1
  ENSP00000394923.2
  ENSP00000399922
  ENSP00000399922.1
  ENSP00000403725
  ENSP00000403725.2
  ENSP00000405031.1
  ENSP00000405464.1
  ENSP00000414819
  ENSP00000414819.1
  ENSP00000416768
  ENSP00000416768.2
GenBank Protein Q9UBU3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001128418   ⟸   NM_001134946
- Peptide Label: isoform 5
- UniProtKB: Q9UBU3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001128417   ⟸   NM_001134945
- Peptide Label: isoform 4
- UniProtKB: Q9UBU3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001128416   ⟸   NM_001134944
- Peptide Label: isoform 3
- UniProtKB: Q9UBU3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001128413   ⟸   NM_001134941
- Peptide Label: isoform 2 preproprotein
- UniProtKB: Q9UBU3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_057446   ⟸   NM_016362
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q8TAT9 (UniProtKB/Swiss-Prot),   Q86YP8 (UniProtKB/Swiss-Prot),   A8DN30 (UniProtKB/Swiss-Prot),   A8DN29 (UniProtKB/Swiss-Prot),   A8CF42 (UniProtKB/Swiss-Prot),   A8CF38 (UniProtKB/Swiss-Prot),   A8CF34 (UniProtKB/Swiss-Prot),   Q9H3R3 (UniProtKB/Swiss-Prot),   Q9UBU3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001289754   ⟸   NM_001302825
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q8TAT9 (UniProtKB/Swiss-Prot),   Q86YP8 (UniProtKB/Swiss-Prot),   A8DN30 (UniProtKB/Swiss-Prot),   A8DN29 (UniProtKB/Swiss-Prot),   A8CF42 (UniProtKB/Swiss-Prot),   A8CF38 (UniProtKB/Swiss-Prot),   A8CF34 (UniProtKB/Swiss-Prot),   Q9H3R3 (UniProtKB/Swiss-Prot),   Q9UBU3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001289753   ⟸   NM_001302824
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q8TAT9 (UniProtKB/Swiss-Prot),   Q86YP8 (UniProtKB/Swiss-Prot),   A8DN30 (UniProtKB/Swiss-Prot),   A8DN29 (UniProtKB/Swiss-Prot),   A8CF42 (UniProtKB/Swiss-Prot),   A8CF38 (UniProtKB/Swiss-Prot),   A8CF34 (UniProtKB/Swiss-Prot),   Q9H3R3 (UniProtKB/Swiss-Prot),   Q9UBU3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001289752   ⟸   NM_001302823
- Peptide Label: isoform 2 preproprotein
- UniProtKB: Q9UBU3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001289751   ⟸   NM_001302822
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q8TAT9 (UniProtKB/Swiss-Prot),   Q86YP8 (UniProtKB/Swiss-Prot),   A8DN30 (UniProtKB/Swiss-Prot),   A8DN29 (UniProtKB/Swiss-Prot),   A8CF42 (UniProtKB/Swiss-Prot),   A8CF38 (UniProtKB/Swiss-Prot),   A8CF34 (UniProtKB/Swiss-Prot),   Q9H3R3 (UniProtKB/Swiss-Prot),   Q9UBU3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001289750   ⟸   NM_001302821
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q8TAT9 (UniProtKB/Swiss-Prot),   Q86YP8 (UniProtKB/Swiss-Prot),   A8DN30 (UniProtKB/Swiss-Prot),   A8DN29 (UniProtKB/Swiss-Prot),   A8CF42 (UniProtKB/Swiss-Prot),   A8CF38 (UniProtKB/Swiss-Prot),   A8CF34 (UniProtKB/Swiss-Prot),   Q9H3R3 (UniProtKB/Swiss-Prot),   Q9UBU3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000405031   ⟸   ENST00000425479
Ensembl Acc Id: ENSP00000403725   ⟸   ENST00000439975
Ensembl Acc Id: ENSP00000335074   ⟸   ENST00000335542
Ensembl Acc Id: ENSP00000414819   ⟸   ENST00000429122
Ensembl Acc Id: ENSP00000391406   ⟸   ENST00000457360
Ensembl Acc Id: ENSP00000287656   ⟸   ENST00000287656
Ensembl Acc Id: ENSP00000399922   ⟸   ENST00000430179
Ensembl Acc Id: ENSP00000394923   ⟸   ENST00000446937
Ensembl Acc Id: ENSP00000388145   ⟸   ENST00000449238
Ensembl Acc Id: ENSP00000405464   ⟸   ENST00000422159
Ensembl Acc Id: ENSP00000416768   ⟸   ENST00000437422
Protein Domains
Motilin/ghrelin   Motilin/ghrelin-associated peptide

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UBU3-F1-model_v2 AlphaFold Q9UBU3 1-117 view protein structure

Promoters
RGD ID:6863564
Promoter ID:EPDNEW_H4947
Type:initiation region
Name:GHRL_2
Description:ghrelin and obestatin prepropeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4948  EPDNEW_H4949  EPDNEW_H4950  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,290,223 - 10,290,283EPDNEW
RGD ID:6863566
Promoter ID:EPDNEW_H4948
Type:initiation region
Name:GHRL_3
Description:ghrelin and obestatin prepropeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4947  EPDNEW_H4949  EPDNEW_H4950  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,290,734 - 10,290,794EPDNEW
RGD ID:6863568
Promoter ID:EPDNEW_H4949
Type:initiation region
Name:GHRL_1
Description:ghrelin and obestatin prepropeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4947  EPDNEW_H4948  EPDNEW_H4950  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,292,947 - 10,293,007EPDNEW
RGD ID:6801136
Promoter ID:HG_KWN:43707
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001134941,   OTTHUMT00000339639,   OTTHUMT00000339640,   UC003BVJ.1,   UC003BVK.2,   UC010HDA.1,   UC010HDB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36310,306,706 - 10,308,047 (-)MPROMDB
RGD ID:6801135
Promoter ID:HG_KWN:43708
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000287656,   NM_001134944,   NM_001134945,   NM_001134946,   NR_024133,   NR_024134,   NR_024135,   NR_024136,   NR_024137,   NR_024138,   OTTHUMT00000339625,   OTTHUMT00000339638,   UC010HDD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36310,309,511 - 10,310,011 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18129 AgrOrtholog
COSMIC GHRL COSMIC
Ensembl Genes ENSG00000157017 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000287656 ENTREZGENE
  ENST00000287656.11 UniProtKB/Swiss-Prot
  ENST00000335542 ENTREZGENE
  ENST00000335542.13 UniProtKB/Swiss-Prot
  ENST00000422159.5 UniProtKB/Swiss-Prot
  ENST00000425479.1 UniProtKB/TrEMBL
  ENST00000429122 ENTREZGENE
  ENST00000429122.1 UniProtKB/Swiss-Prot
  ENST00000430179 ENTREZGENE
  ENST00000430179.5 UniProtKB/Swiss-Prot
  ENST00000437422 ENTREZGENE
  ENST00000437422.6 UniProtKB/Swiss-Prot
  ENST00000439975 ENTREZGENE
  ENST00000439975.6 UniProtKB/Swiss-Prot
  ENST00000446937.2 UniProtKB/TrEMBL
  ENST00000449238 ENTREZGENE
  ENST00000449238.6 UniProtKB/Swiss-Prot
  ENST00000457360 ENTREZGENE
  ENST00000457360.5 UniProtKB/Swiss-Prot
GTEx ENSG00000157017 GTEx
HGNC ID HGNC:18129 ENTREZGENE
Human Proteome Map GHRL Human Proteome Map
InterPro Motilin_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Motilin_ghrelin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Preproghrelin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51738 UniProtKB/Swiss-Prot
NCBI Gene 51738 ENTREZGENE
OMIM 605353 OMIM
PANTHER APPETITE-REGULATING HORMONE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14122 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Motilin_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Motilin_ghrelin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671740 PharmGKB
PRINTS GHRELIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0R5QLN9_HUMAN UniProtKB/TrEMBL
  A2T3X2_HUMAN UniProtKB/TrEMBL
  A2T3X3_HUMAN UniProtKB/TrEMBL
  A2T3X4_HUMAN UniProtKB/TrEMBL
  A2T3X5_HUMAN UniProtKB/TrEMBL
  A8CF34 ENTREZGENE
  A8CF38 ENTREZGENE
  A8CF42 ENTREZGENE
  A8DN24_HUMAN UniProtKB/TrEMBL
  A8DN29 ENTREZGENE
  A8DN30 ENTREZGENE
  E7ESW0_HUMAN UniProtKB/TrEMBL
  GHRL_HUMAN UniProtKB/Swiss-Prot
  I6N821_HUMAN UniProtKB/TrEMBL
  Q86YP8 ENTREZGENE
  Q8TAT9 ENTREZGENE
  Q9H3R3 ENTREZGENE
  Q9UBU3 ENTREZGENE
UniProt Secondary A8CF34 UniProtKB/Swiss-Prot
  A8CF38 UniProtKB/Swiss-Prot
  A8CF42 UniProtKB/Swiss-Prot
  A8DN29 UniProtKB/Swiss-Prot
  A8DN30 UniProtKB/Swiss-Prot
  Q86YP8 UniProtKB/Swiss-Prot
  Q8TAT9 UniProtKB/Swiss-Prot
  Q9H3R3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-16 GHRL  ghrelin and obestatin prepropeptide  GHRL  ghrelin/obestatin prepropeptide  Symbol and/or name change 5135510 APPROVED