GRN (granulin precursor) - Rat Genome Database

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Gene: GRN (granulin precursor) Homo sapiens
Analyze
Symbol: GRN
Name: granulin precursor
RGD ID: 1345254
HGNC Page HGNC
Description: Enables chaperone binding activity. Involved in several processes, including lysosomal lumen acidification; negative regulation of respiratory burst involved in inflammatory response; and positive regulation of lysosome organization. Located in several cellular components, including Golgi apparatus; late endosome; and lysosomal membrane. Implicated in dementia (multiple); neurodegenerative disease (multiple); neuronal ceroid lipofuscinosis 11; and primary progressive multiple sclerosis. Biomarker of several diseases, including Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; atherosclerosis; autistic disorder; multiple sclerosis (multiple); and neurodegenerative disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acrogranin; CLN11; epithelin; GEP; glycoprotein 88; glycoprotein of 88 Kda; GP88; granulin; granulin-epithelin; granulins; PC cell-derived growth factor; PCDGF; PEPI; PGRN; proepithelin; progranulin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381744,345,302 - 44,353,106 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1744,345,246 - 44,353,106 (+)EnsemblGRCh38hg38GRCh38
GRCh371742,422,670 - 42,430,474 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,778,017 - 39,785,996 (+)NCBINCBI36hg18NCBI36
Build 341739,778,016 - 39,785,996NCBI
Celera1739,132,112 - 39,140,095 (+)NCBI
Cytogenetic Map17q21.31NCBI
HuRef1738,186,768 - 38,194,753 (+)NCBIHuRef
CHM1_11742,658,166 - 42,666,146 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3',5'-cyclic AMP  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
astaxanthin  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) adipate  (ISO)
bisphenol A  (EXP,ISO)
butan-1-ol  (EXP)
butyric acid  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
chlorogenic acid  (EXP)
chloropicrin  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
cycloheximide  (EXP)
cyclosporin A  (EXP)
cyproconazole  (ISO)
deguelin  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethyl sulfoxide  (EXP)
dimethylarsinic acid  (ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
felbamate  (ISO)
fenamidone  (ISO)
flavonoids  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (ISO)
hypochlorous acid  (ISO)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
lithium chloride  (EXP)
LY294002  (ISO)
menadione  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
N-nitrosodimethylamine  (ISO)
nickel dichloride  (ISO)
nimesulide  (ISO)
nitroglycerin  (ISO)
Osajin  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
Pomiferin  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
selenium atom  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sulindac  (EXP)
sulindac sulfide  (EXP)
T-2 toxin  (EXP)
tacrolimus hydrate  (ISO)
tamibarotene  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP,ISO)
wortmannin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
astrocyte activation involved in immune response  (ISS)
blastocyst hatching  (ISO)
chondrocyte proliferation  (ISO)
embryo implantation  (ISO)
epithelial cell proliferation  (ISO)
locomotory exploration behavior  (ISO)
lysosomal lumen acidification  (IMP)
lysosomal protein catabolic process  (ISO)
lysosomal transport  (IMP,ISS)
lysosome organization  (ISS)
male mating behavior  (ISO)
microglial cell activation involved in immune response  (ISS)
negative regulation of hydrolase activity  (ISO)
negative regulation of inflammatory response  (ISO)
negative regulation of innate immune response  (ISO)
negative regulation of microglial cell activation  (ISS)
negative regulation of neuron apoptotic process  (IDA)
negative regulation of neutrophil activation  (IDA)
negative regulation of respiratory burst involved in inflammatory response  (IDA)
neural precursor cell proliferation  (ISO)
positive regulation of angiogenesis  (ISS)
positive regulation of aspartic-type peptidase activity  (IMP,ISS)
positive regulation of axon regeneration  (ISS)
positive regulation of cell migration  (IMP)
positive regulation of cell population proliferation  (ISO)
positive regulation of defense response to bacterium  (ISS)
positive regulation of dendritic spine development  (ISO)
positive regulation of endothelial cell migration  (ISS)
positive regulation of epithelial cell proliferation  (IDA,ISO)
positive regulation of inflammatory response to wounding  (ISS)
positive regulation of lysosome organization  (IDA)
positive regulation of neuron apoptotic process  (ISS)
positive regulation of neuron projection development  (ISO)
positive regulation of protein folding  (ISS)
positive regulation of trophectodermal cell proliferation  (ISO)
protein stabilization  (IMP)
regulation of inflammatory response  (IBA)
regulation of lysosome organization  (ISO)
response to estradiol  (ISO)
retina development in camera-type eye  (ISO)
signal transduction  (NAS)
synaptic vesicle endocytosis  (ISO)
trophectodermal cell proliferation  (ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brain FDG positron emission tomography  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal lower motor neuron morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abulia  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Alexia  (IAGP)
Alzheimer disease  (IAGP)
Anomic aphasia  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aphasia  (IAGP)
Apraxia  (IAGP)
Astrocytosis  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bradykinesia  (IAGP)
Brain atrophy  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cognitive impairment  (IAGP)
Collectionism  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Dilation of lateral ventricles  (IAGP)
Disinhibition  (IAGP)
Dyscalculia  (IAGP)
Dysgraphia  (IAGP)
Dyslexia  (IAGP)
Dysphasia  (IAGP)
Echolalia  (IAGP)
EEG abnormality  (IAGP)
EEG with continuous slow activity  (IAGP)
Emotional blunting  (IAGP)
Expressive aphasia  (IAGP)
Fasciculations  (IAGP)
Frontotemporal cerebral atrophy  (IAGP)
Frontotemporal dementia  (IAGP)
Gait disturbance  (IAGP)
Generalized myoclonic seizure  (IAGP)
Gliosis  (IAGP)
Grammar-specific speech disorder  (IAGP)
Hallucinations  (IAGP)
Hyperorality  (IAGP)
Hyperreflexia  (IAGP)
Hypersexuality  (IAGP)
Inappropriate behavior  (IAGP)
Irritability  (IAGP)
Ischemic stroke  (IAGP)
Lack of insight  (IAGP)
Lewy bodies  (IAGP)
Loss of speech  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Motor stereotypy  (IAGP)
Mutism  (IAGP)
Neurodegeneration  (IAGP)
Neurofibrillary tangles  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Optic atrophy  (IAGP)
Parkinsonism  (IAGP)
Perseveration  (IAGP)
Personality changes  (IAGP)
Polyphagia  (IAGP)
Poor speech  (IAGP)
Progressive language deterioration  (IAGP)
Psychosis  (IAGP)
Rapidly progressive  (IAGP)
Repetitive compulsive behavior  (IAGP)
Restlessness  (IAGP)
Restrictive behavior  (IAGP)
Retinal dystrophy  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Senile plaques  (IAGP)
Spoken word recognition deficit  (IAGP)
Stroke  (IAGP)
Temporal cortical atrophy  (IAGP)
Thickened nuchal skin fold  (IAGP)
Tremor  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Visual agnosia  (IAGP)
Visual impairment  (IAGP)
References

References - curated
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5. Chen-Plotkin AS, etal., Acta Neuropathol. 2010 Jan;119(1):111-22. Epub 2009 Aug 2.
6. Chiang HH, etal., Alzheimers Dement. 2008 Nov;4(6):414-20.
7. Cruchaga C, etal., Arch Neurol. 2011 May;68(5):581-6. Epub 2011 Jan 10.
8. Dickson DW, etal., Neurodegener Dis. 2010;7(1-3):170-4. Epub 2010 Mar 3.
9. Egashira Y, etal., J Neuroinflammation. 2013 Aug 23;10:105. doi: 10.1186/1742-2094-10-105.
10. Fenoglio C, etal., Genes Immun. 2010 Sep;11(6):497-503. Epub 2010 May 13.
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12. Galimberti D, etal., Neurol Sci. 2013 Jun;34(6):899-903. doi: 10.1007/s10072-012-1151-5. Epub 2012 Jul 14.
13. Ghoshal N, etal., Neurobiol Dis. 2011 Sep 10.
14. GOA_HUMAN data from the GO Consortium
15. Jasinska-Myga B, etal., Eur J Neurol. 2009 Aug;16(8):909-11. doi: 10.1111/j.1468-1331.2009.02621.x. Epub 2009 Mar 31.
16. Kelley BJ, etal., Arch Neurol. 2010 Feb;67(2):171-7.
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18. Kojima Y, etal., Atherosclerosis. 2009 Sep;206(1):102-8. Epub 2009 Feb 23.
19. Lopez de Munain A, etal., Biol Psychiatry. 2008 May 15;63(10):946-52. Epub 2007 Oct 22.
20. Mateo I, etal., Eur J Neurol. 2013 Dec;20(12):1571-3. doi: 10.1111/ene.12090. Epub 2013 Feb 9.
21. Mukherjee O, etal., Ann Neurol. 2006 Sep;60(3):314-22.
22. Naphade SB, etal., Acta Neuropathol. 2010 Jan;119(1):123-33. Epub 2009 Nov 28.
23. OMIM Disease Annotation Pipeline
24. Pereson S, etal., J Pathol. 2009 Oct;219(2):173-81.
25. Philips T, etal., J Neuropathol Exp Neurol. 2010 Dec;69(12):1191-200.
26. Pickering-Brown SM, etal., Brain. 2008 Mar;131(Pt 3):721-31. doi: 10.1093/brain/awm331. Epub 2008 Jan 11.
27. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. RGD automated import pipeline for gene-chemical interactions
29. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Skoglund L, etal., Neurogenetics. 2009 Feb;10(1):27-34. Epub 2008 Oct 15.
31. Sleegers K, etal., Neurology. 2008 Jul 22;71(4):253-9. Epub 2008 Jan 9.
32. Tang W, etal., Science. 2011 Apr 22;332(6028):478-84. Epub 2011 Mar 10.
33. Vercellino M, etal., Mult Scler. 2011 Oct;17(10):1194-201. Epub 2011 May 25.
34. Viswanathan J, etal., Am J Med Genet B Neuropsychiatr Genet. 2009 Jul 5;150B(5):747-50. doi: 10.1002/ajmg.b.30889.
35. Zhu S, etal., Brain Res. 2013 Sep 12;1530:54-65. doi: 10.1016/j.brainres.2013.07.023. Epub 2013 Jul 22.
Additional References at PubMed
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PMID:27220888   PMID:27239673   PMID:27258413   PMID:27311648   PMID:27465877   PMID:27497155   PMID:27515686   PMID:27517315   PMID:27571908   PMID:27576135   PMID:27625986   PMID:27632209  
PMID:27705803   PMID:27744566   PMID:27760429   PMID:27767988   PMID:27776152   PMID:27789271   PMID:27814992   PMID:27903606   PMID:27941174   PMID:28070672   PMID:28073702   PMID:28073925  
PMID:28127696   PMID:28153380   PMID:28189700   PMID:28247166   PMID:28273689   PMID:28285794   PMID:28330615   PMID:28330616   PMID:28415822   PMID:28433812   PMID:28435163   PMID:28453791  
PMID:28473694   PMID:28493053   PMID:28514442   PMID:28515276   PMID:28529873   PMID:28541286   PMID:28574293   PMID:28594853   PMID:28601093   PMID:28609022   PMID:28664756   PMID:28718761  
PMID:28743268   PMID:28823651   PMID:28828399   PMID:28903038   PMID:29036611   PMID:29039535   PMID:29044416   PMID:29116422   PMID:29146050   PMID:29176029   PMID:29180619   PMID:29226876  
PMID:29230494   PMID:29396296   PMID:29398357   PMID:29480174   PMID:29530724   PMID:29568061   PMID:29615496   PMID:29676528   PMID:29717106   PMID:29735542   PMID:29740434   PMID:29754471  
PMID:29845934   PMID:29866109   PMID:29872149   PMID:29874572   PMID:29889066   PMID:29892012   PMID:29984158   PMID:29992506   PMID:30010122   PMID:30060789   PMID:30151059   PMID:30187338  
PMID:30196744   PMID:30229554   PMID:30268392   PMID:30369339   PMID:30378010   PMID:30454027   PMID:30475763   PMID:30482868   PMID:30530405   PMID:30545478   PMID:30599136   PMID:30778852  
PMID:30782973   PMID:30921613   PMID:31102282   PMID:31262553   PMID:31285425   PMID:31291241   PMID:31361008   PMID:31361391   PMID:31376286   PMID:31469472   PMID:31484831   PMID:31491449  
PMID:31492495   PMID:31515488   PMID:31534059   PMID:31585000   PMID:31600775   PMID:31626287   PMID:31710121   PMID:31713081   PMID:31804874   PMID:31818769   PMID:31855245   PMID:31864418  
PMID:31870439   PMID:31928925   PMID:31980649   PMID:32006270   PMID:32112819   PMID:32129710   PMID:32247641   PMID:32296183   PMID:32344399   PMID:32409323   PMID:32417448   PMID:32474861  
PMID:32507413   PMID:32526197   PMID:32615724   PMID:32759310   PMID:32769115   PMID:32814053   PMID:32908313   PMID:32972771   PMID:32985120   PMID:33029756   PMID:33112398   PMID:33157500  
PMID:33197149   PMID:33323378   PMID:33411849   PMID:33418170   PMID:33433870   PMID:33443646   PMID:33486486   PMID:33618683   PMID:33644029   PMID:33742100   PMID:33813350   PMID:33896652  
PMID:33930186   PMID:33941562   PMID:33961781   PMID:33969679   PMID:33980708   PMID:34103390   PMID:34133714   PMID:34208547   PMID:34374777   PMID:34450028   PMID:34591877   PMID:34620513  
PMID:34664252   PMID:34709727   PMID:34718893   PMID:34919127   PMID:35013174   PMID:35085262   PMID:35140242   PMID:35159297   PMID:35241513  


Genomics

Comparative Map Data
GRN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381744,345,302 - 44,353,106 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1744,345,246 - 44,353,106 (+)EnsemblGRCh38hg38GRCh38
GRCh371742,422,670 - 42,430,474 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,778,017 - 39,785,996 (+)NCBINCBI36hg18NCBI36
Build 341739,778,016 - 39,785,996NCBI
Celera1739,132,112 - 39,140,095 (+)NCBI
Cytogenetic Map17q21.31NCBI
HuRef1738,186,768 - 38,194,753 (+)NCBIHuRef
CHM1_11742,658,166 - 42,666,146 (+)NCBICHM1_1
Grn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911102,321,333 - 102,327,635 (+)NCBIGRCm39mm39
GRCm39 Ensembl11102,321,141 - 102,327,874 (+)Ensembl
GRCm3811102,430,507 - 102,436,809 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11102,430,315 - 102,437,048 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711102,291,636 - 102,298,123 (+)NCBIGRCm37mm9NCBIm37
MGSCv3611102,246,597 - 102,252,895 (+)NCBImm8
Celera11114,140,482 - 114,146,970 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1166.29NCBI
Grn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21087,387,672 - 87,393,777 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1087,387,638 - 87,393,775 (+)Ensembl
Rnor_6.01090,377,103 - 90,383,207 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1090,376,933 - 90,383,205 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01090,165,634 - 90,171,738 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41091,536,135 - 91,542,239 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11091,552,883 - 91,556,599 (+)NCBI
Celera1086,096,583 - 86,102,687 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Grn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545117,368,428 - 17,372,377 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545117,368,600 - 17,371,981 (+)NCBIChiLan1.0ChiLan1.0
GRN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11713,211,784 - 13,219,793 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1713,211,784 - 13,219,609 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01713,046,329 - 13,054,236 (-)NCBIMhudiblu_PPA_v0panPan3
GRN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1919,077,430 - 19,085,443 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl919,077,427 - 19,082,268 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha918,467,174 - 18,474,620 (-)NCBI
ROS_Cfam_1.0919,771,801 - 19,779,240 (-)NCBI
ROS_Cfam_1.0 Ensembl919,771,806 - 19,779,115 (-)Ensembl
UMICH_Zoey_3.1918,625,608 - 18,633,045 (-)NCBI
UNSW_CanFamBas_1.0918,808,582 - 18,816,025 (-)NCBI
UU_Cfam_GSD_1.0918,952,849 - 18,960,290 (-)NCBI
Grn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560218,390,156 - 18,401,106 (-)NCBI
SpeTri2.0NW_004936541793,548 - 800,271 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1218,893,770 - 18,900,446 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11218,893,772 - 18,900,444 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21219,212,414 - 19,216,283 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GRN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11662,037,344 - 62,045,765 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1662,036,412 - 62,045,614 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607732,804,031 - 32,812,724 (-)NCBIVero_WHO_p1.0
Grn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624795704,066 - 708,721 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
G54019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,430,156 - 42,430,268UniSTSGRCh37
Build 361739,785,682 - 39,785,794RGDNCBI36
Celera1739,139,781 - 39,139,893RGD
Cytogenetic Map17q21.32UniSTS
HuRef1738,194,439 - 38,194,551UniSTS
D17S1701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,430,328 - 42,430,457UniSTSGRCh37
Build 361739,785,854 - 39,785,983RGDNCBI36
Celera1739,139,953 - 39,140,082RGD
Cytogenetic Map17q21.32UniSTS
HuRef1738,194,611 - 38,194,740UniSTS
STS-T54360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,430,265 - 42,430,458UniSTSGRCh37
Build 361739,785,791 - 39,785,984RGDNCBI36
Celera1739,139,890 - 39,140,083RGD
Cytogenetic Map17q21.32UniSTS
HuRef1738,194,548 - 38,194,741UniSTS
GeneMap99-GB4 RH Map17320.18UniSTS
NCBI RH Map17564.8UniSTS
STS-X62320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,430,261 - 42,430,456UniSTSGRCh37
Build 361739,785,787 - 39,785,982RGDNCBI36
Celera1739,139,886 - 39,140,081RGD
Cytogenetic Map17q21.32UniSTS
HuRef1738,194,544 - 38,194,739UniSTS
GeneMap99-GB4 RH Map17322.36UniSTS
NCBI RH Map17559.7UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR107hsa-miR-107Mirtarbaseexternal_infoMicroarray//Western blotFunctional MTI20884628
MIR107hsa-miR-107Mirtarbaseexternal_infoReporter assay;Western blot;MicroarrayFunctional MTI20489155
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCR//WesternFunctional MTI20479936
MIR659hsa-miR-659-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18723524
MIR659hsa-miR-659-5pMirecordsexternal_infoNANA18723524
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCR//WesternFunctional MTI20479936

Predicted Target Of
Summary Value
Count of predictions:7219
Count of miRNA genes:1074
Interacting mature miRNAs:1381
Transcripts:ENST00000053867, ENST00000585348, ENST00000585512, ENST00000586242, ENST00000586443, ENST00000586782, ENST00000587109, ENST00000587387, ENST00000587518, ENST00000587958, ENST00000588143, ENST00000588170, ENST00000588237, ENST00000589265, ENST00000589536, ENST00000589923, ENST00000590984, ENST00000591740, ENST00000592323, ENST00000592783, ENST00000593167
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.


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 6 20 21 6 4 52 16
Medium 2426 2953 1717 619 1918 461 4348 2186 3511 413 1395 1592 171 1204 2787 4
Low 11 6 3 9 3 1 7 197 1 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY124489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC336362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M75161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000053867   ⟹   ENSP00000053867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,353,106 (+)Ensembl
RefSeq Acc Id: ENST00000585348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,350,911 - 44,351,599 (+)Ensembl
RefSeq Acc Id: ENST00000585512   ⟹   ENSP00000467745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,349,275 (+)Ensembl
RefSeq Acc Id: ENST00000586242   ⟹   ENSP00000467837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,352,202 - 44,353,102 (+)Ensembl
RefSeq Acc Id: ENST00000586443   ⟹   ENSP00000465673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,350,539 - 44,353,043 (+)Ensembl
RefSeq Acc Id: ENST00000586782   ⟹   ENSP00000468318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,314 - 44,351,163 (+)Ensembl
RefSeq Acc Id: ENST00000587109   ⟹   ENSP00000466271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,265 - 44,349,474 (+)Ensembl
RefSeq Acc Id: ENST00000587387   ⟹   ENSP00000467431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,350,511 (+)Ensembl
RefSeq Acc Id: ENST00000587518   ⟹   ENSP00000465518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,265 - 44,350,287 (+)Ensembl
RefSeq Acc Id: ENST00000587958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,306 - 44,349,811 (+)Ensembl
RefSeq Acc Id: ENST00000588143   ⟹   ENSP00000465375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,282 - 44,350,469 (+)Ensembl
RefSeq Acc Id: ENST00000588170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,246 - 44,349,894 (+)Ensembl
RefSeq Acc Id: ENST00000588237   ⟹   ENSP00000466611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,351,044 (+)Ensembl
RefSeq Acc Id: ENST00000589265   ⟹   ENSP00000467616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,305 - 44,353,082 (+)Ensembl
RefSeq Acc Id: ENST00000589536   ⟹   ENSP00000466956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,262 - 44,349,736 (+)Ensembl
RefSeq Acc Id: ENST00000589923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,350,772 - 44,351,795 (+)Ensembl
RefSeq Acc Id: ENST00000590984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,350,289 - 44,351,300 (+)Ensembl
RefSeq Acc Id: ENST00000591740   ⟹   ENSP00000467022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,350,283 (+)Ensembl
RefSeq Acc Id: ENST00000592323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,349,789 (+)Ensembl
RefSeq Acc Id: ENST00000592783   ⟹   ENSP00000467870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,350,304 (+)Ensembl
RefSeq Acc Id: ENST00000593167   ⟹   ENSP00000466405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,298 - 44,350,325 (+)Ensembl
RefSeq Acc Id: ENST00000639447   ⟹   ENSP00000492014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,349,165 - 44,352,795 (+)Ensembl
RefSeq Acc Id: NM_002087   ⟹   NP_002078
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,345,302 - 44,353,106 (+)NCBI
GRCh371742,422,491 - 42,430,474 (+)NCBI
Build 361739,778,017 - 39,785,996 (+)NCBI Archive
HuRef1738,186,768 - 38,194,753 (+)ENTREZGENE
CHM1_11742,658,129 - 42,666,150 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257253   ⟹   XP_005257310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,345,302 - 44,353,106 (+)NCBI
GRCh371742,422,491 - 42,430,474 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002078   ⟸   NM_002087
- Peptide Label: precursor
- UniProtKB: P28799 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005257310   ⟸   XM_005257253
- Peptide Label: isoform X1
- UniProtKB: P28799 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000467745   ⟸   ENST00000585512
RefSeq Acc Id: ENSP00000492014   ⟸   ENST00000639447
RefSeq Acc Id: ENSP00000467837   ⟸   ENST00000586242
RefSeq Acc Id: ENSP00000468318   ⟸   ENST00000586782
RefSeq Acc Id: ENSP00000465673   ⟸   ENST00000586443
RefSeq Acc Id: ENSP00000466271   ⟸   ENST00000587109
RefSeq Acc Id: ENSP00000465518   ⟸   ENST00000587518
RefSeq Acc Id: ENSP00000467431   ⟸   ENST00000587387
RefSeq Acc Id: ENSP00000466611   ⟸   ENST00000588237
RefSeq Acc Id: ENSP00000465375   ⟸   ENST00000588143
RefSeq Acc Id: ENSP00000467616   ⟸   ENST00000589265
RefSeq Acc Id: ENSP00000466956   ⟸   ENST00000589536
RefSeq Acc Id: ENSP00000467022   ⟸   ENST00000591740
RefSeq Acc Id: ENSP00000467870   ⟸   ENST00000592783
RefSeq Acc Id: ENSP00000053867   ⟸   ENST00000053867
RefSeq Acc Id: ENSP00000466405   ⟸   ENST00000593167
Protein Domains
GRANULINS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28799-F1-model_v2 AlphaFold P28799 1-593 view protein structure

Promoters
RGD ID:6794189
Promoter ID:HG_KWN:26317
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000357351,   ENST00000393566,   NM_002087
Position:
Human AssemblyChrPosition (strand)Source
Build 361739,777,969 - 39,778,469 (+)MPROMDB
RGD ID:6852512
Promoter ID:EP74068
Type:initiation region
Name:HS_GRN
Description:Granulin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361739,778,176 - 39,778,236EPD
RGD ID:6794206
Promoter ID:HG_KWN:26318
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002IGQ.1,   UC002IGR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361739,781,256 - 39,782,627 (+)MPROMDB
RGD ID:7235269
Promoter ID:EPDNEW_H23380
Type:initiation region
Name:GRN_1
Description:granulin precursor
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
GRCh381744,345,302 - 44,345,362EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
NM_002087.4(GRN):c.592_593del (p.Arg198fs) deletion not provided [RCV000518697] Chr17:44350571..44350572 [GRCh38]
Chr17:42427939..42427940 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1465_1469dup (p.Lys491fs) duplication not provided [RCV000517701] Chr17:44352391..44352392 [GRCh38]
Chr17:42429759..42429760 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter) single nucleotide variant not provided [RCV000517776] Chr17:44351688 [GRCh38]
Chr17:42429056 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_002087.4(GRN):c.1742A>T (p.Asp581Val) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001404573]|Seizure [RCV000718489]|not provided [RCV000983946]|not specified [RCV000518609] Chr17:44352758 [GRCh38]
Chr17:42430126 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_002087.4(GRN):c.53C>T (p.Thr18Met) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000764130]|not provided [RCV000521954] Chr17:44349217 [GRCh38]
Chr17:42426585 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.709-1G>A single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000022595] Chr17:44351036 [GRCh38]
Chr17:42428404 [GRCh37]
Chr17:17q21.31		 pathogenic
GRN, IVS0DS, G-C, +5 single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017379] Chr17:17q21.32 pathogenic
NM_002087.4(GRN):c.93_96dup (p.Asp33fs) duplication Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017383] Chr17:44349253..44349254 [GRCh38]
Chr17:42426621..42426622 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.388_391del (p.Gln130fs) deletion Frontotemporal dementia [RCV000736253]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017384]|not provided [RCV000084442] Chr17:44350263..44350266 [GRCh38]
Chr17:42427631..42427634 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.835+1G>A single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017385] Chr17:44351164 [GRCh38]
Chr17:42428532 [GRCh37]
Chr17:17q21.31		 pathogenic
GRN, 1-BP DEL, 998G deletion Primary progressive aphasia [RCV000017388] Chr17:17q21.32 pathogenic
GRN, 1-BP INS, 1145A insertion Frontotemporal dementia, ubiquitin-positive [RCV000017389] Chr17:17q21.32 pathogenic
GRN, IVS7AS, A-G, -2 single nucleotide variant Primary progressive aphasia [RCV000017390] Chr17:17q21.32 pathogenic
GRN, 2-BP DEL, 675CA deletion Primary progressive aphasia [RCV000017391] Chr17:17q21.32 pathogenic
GRN, IVS6AS, A-G, -2 single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017392] Chr17:17q21.32 pathogenic
GRN, 1-BP DEL, 102C deletion Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017395] Chr17:17q21.32 pathogenic
GRN, 1-BP DEL, 154A deletion Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017396] Chr17:17q21.32 pathogenic
NM_002087.4(GRN):c.25del (p.Ala9fs) deletion not provided [RCV001291567] Chr17:44349188 [GRCh38]
Chr17:42426556 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1087_1088del (p.Asp363fs) microsatellite Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000778498] Chr17:44351698..44351699 [GRCh38]
Chr17:42429066..42429067 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.898C>T (p.Gln300Ter) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001218285]|not provided [RCV000517994] Chr17:44351425 [GRCh38]
Chr17:42428793 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.6G>A (p.Trp2Ter) single nucleotide variant not provided [RCV000516487] Chr17:44349170 [GRCh38]
Chr17:42426538 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.933+7del deletion not provided [RCV000559099] Chr17:44351467 [GRCh38]
Chr17:42428835 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1414-2A>G single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000650260]|not provided [RCV000516768] Chr17:44352339 [GRCh38]
Chr17:42429707 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.3(GRN):c.-56T>G single nucleotide variant not specified [RCV000517810] Chr17:44345286 [GRCh38]
Chr17:42422654 [GRCh37]
Chr17:17q21.31		 benign
NM_002087.4(GRN):c.1578C>T (p.Phe526=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001494180] Chr17:44352505 [GRCh38]
Chr17:42429873 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.705C>A (p.Pro235=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001410336]|not provided [RCV000874915]|not specified [RCV000517062] Chr17:44350797 [GRCh38]
Chr17:42428165 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_002087.4(GRN):c.599-1G>A single nucleotide variant not provided [RCV000516967] Chr17:44350690 [GRCh38]
Chr17:42428058 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.*78C>T single nucleotide variant FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO [RCV000022594]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000353944]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000650262]|Ischemic stroke, susceptibility to [RCV000791344]|not provided [RCV001636606] Chr17:44352876 [GRCh38]
Chr17:42430244 [GRCh37]
Chr17:17q21.31		 risk factor|affects|benign
NM_002087.4(GRN):c.373C>T (p.Gln125Ter) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017380]|not provided [RCV000084439] Chr17:44350251 [GRCh38]
Chr17:42427619 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.2T>C (p.Met1Thr) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017381]|not provided [RCV000084419] Chr17:44349166 [GRCh38]
Chr17:42426534 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.3G>A (p.Met1Ile) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017382]|not provided [RCV000084420] Chr17:44349167 [GRCh38]
Chr17:42426535 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017386]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001851887]|not provided [RCV000084421] Chr17:44349190 [GRCh38]
Chr17:42426558 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017387]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001039647]|not provided [RCV000084491] Chr17:44352404 [GRCh38]
Chr17:42429772 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.813_816del (p.Thr272fs) deletion Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017393]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001851888]|Neuronal ceroid lipofuscinosis 11 [RCV000029169]|Primary progressive aphasia [RCV000017394]|not provided [RCV000084585] Chr17:44351139..44351142 [GRCh38]
Chr17:42428507..42428510 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1 copy number loss See cases [RCV000053429] Chr17:43570878..44762377 [GRCh38]
Chr17:41648246..42839745 [GRCh37]
Chr17:39003772..40195271 [NCBI36]
Chr17:17q21.31		 pathogenic
NM_002087.3(GRN):c.923C>T (p.Pro308Leu) single nucleotide variant Malignant melanoma [RCV000071508] Chr17:44351450 [GRCh38]
Chr17:42428818 [GRCh37]
Chr17:39784344 [NCBI36]
Chr17:17q21.31		 not provided
NM_002087.3(GRN):c.467C>T (p.Ser156Phe) single nucleotide variant Malignant melanoma [RCV000063228] Chr17:44350446 [GRCh38]
Chr17:42427814 [GRCh37]
Chr17:39783340 [NCBI36]
Chr17:17q21.31		 not provided
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) duplication Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017389]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854478]|not provided [RCV000084472] Chr17:44351759..44351760 [GRCh38]
Chr17:42429127..42429128 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.1395dup (p.Cys466fs) duplication not provided [RCV000084486] Chr17:44352228..44352229 [GRCh38]
Chr17:42429596..42429597 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.-8+3A>T single nucleotide variant not provided [RCV000084417] Chr17:44345337 [GRCh38]
Chr17:42422705 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.-8+5G>C single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001089936]|not provided [RCV000084418] Chr17:44345339 [GRCh38]
Chr17:42422707 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576325]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001079864]|Seizure [RCV000715766]|not provided [RCV000084422]|not specified [RCV000246460] Chr17:44349219 [GRCh38]
Chr17:42426587 [GRCh37]
Chr17:17q21.31		 benign|likely benign|not provided
NM_002087.4(GRN):c.63_64insC (p.Asp22fs) insertion not provided [RCV000084423] Chr17:44349227..44349228 [GRCh38]
Chr17:42426595..42426596 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.87_90dup (p.Cys31fs) duplication not provided [RCV000084424] Chr17:44349248..44349249 [GRCh38]
Chr17:42426616..42426617 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.99C>T (p.Asp33=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576806]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001080696]|Seizure [RCV000716976]|not provided [RCV000084425]|not specified [RCV000243797] Chr17:44349263 [GRCh38]
Chr17:42426631 [GRCh37]
Chr17:17q21.31		 benign|likely benign|not provided
NM_002087.4(GRN):c.102C>T (p.Pro34=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002055247]|not provided [RCV000084426] Chr17:44349266 [GRCh38]
Chr17:42426634 [GRCh37]
Chr17:17q21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_002087.4(GRN):c.102del (p.Gly35fs) deletion Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001241659]|not provided [RCV000084427] Chr17:44349263 [GRCh38]
Chr17:42426631 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.138+1G>A single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001049316]|not provided [RCV000084428] Chr17:44349303 [GRCh38]
Chr17:42426671 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.154del (p.Thr52fs) deletion not provided [RCV000084429] Chr17:44349440 [GRCh38]
Chr17:42426808 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.158T>C (p.Leu53Pro) single nucleotide variant not provided [RCV000084430] Chr17:44349445 [GRCh38]
Chr17:42426813 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.243del (p.Ser82fs) deletion not provided [RCV000084431] Chr17:44349529 [GRCh38]
Chr17:42426897 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.264G>A (p.Glu88=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995779]|not provided [RCV000084432] Chr17:44349551 [GRCh38]
Chr17:42426919 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.279G>A (p.Gly93=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001079794]|not provided [RCV000084433] Chr17:44349681 [GRCh38]
Chr17:42427049 [GRCh37]
Chr17:17q21.31		 likely benign|not provided
NM_002087.4(GRN):c.313T>C (p.Cys105Arg) single nucleotide variant not provided [RCV000084434] Chr17:44349715 [GRCh38]
Chr17:42427083 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.317G>A (p.Ser106Asn) single nucleotide variant not provided [RCV000084435] Chr17:44349719 [GRCh38]
Chr17:42427087 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000767861]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001387934]|Neuronal ceroid lipofuscinosis 11 [RCV001291777]|not provided [RCV000084436] Chr17:44349730 [GRCh38]
Chr17:42427098 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001086038]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125933]|not provided [RCV000084437] Chr17:44350237 [GRCh38]
Chr17:42427605 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance|not provided
NM_002087.4(GRN):c.361del (p.Val121fs) deletion not provided [RCV000084438] Chr17:44350239 [GRCh38]
Chr17:42427607 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.384T>C (p.Asp128=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000280623]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001516285]|Seizure [RCV000715184]|not provided [RCV000084440]|not specified [RCV000251569] Chr17:44350262 [GRCh38]
Chr17:42427630 [GRCh37]
Chr17:17q21.31		 benign|likely benign|not provided
NM_002087.4(GRN):c.384_387del (p.Gln130fs) deletion not provided [RCV000084441] Chr17:44350262..44350265 [GRCh38]
Chr17:42427630..42427633 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.2(GRN):c.388_391delCAGT (p.Gln130Serfs) deletion not provided [RCV000084442] Chr17:44350266..44350269 [GRCh38]
Chr17:42427634..42427637 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.421G>A (p.Val141Ile) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854474]|not provided [RCV000084443] Chr17:44350299 [GRCh38]
Chr17:42427667 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance|not provided
NM_002087.4(GRN):c.463-1G>A single nucleotide variant not provided [RCV000084444] Chr17:44350441 [GRCh38]
Chr17:42427809 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.468_474del (p.Cys157fs) deletion not provided [RCV000084445] Chr17:44350447..44350453 [GRCh38]
Chr17:42427815..42427821 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.473G>A (p.Cys158Tyr) single nucleotide variant not provided [RCV000084446] Chr17:44350452 [GRCh38]
Chr17:42427820 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.545C>T (p.Thr182Met) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000295460]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001089192]|Seizure [RCV000720066]|not provided [RCV000084447] Chr17:44350524 [GRCh38]
Chr17:42427892 [GRCh37]
Chr17:17q21.31		 benign|likely benign|not provided
NM_002087.4(GRN):c.635G>A (p.Arg212Gln) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000815880]|not provided [RCV000084448] Chr17:44350727 [GRCh38]
Chr17:42428095 [GRCh37]
Chr17:17q21.31		 uncertain significance|not provided
NM_002087.4(GRN):c.658A>T (p.Thr220Ser) single nucleotide variant not provided [RCV000084449] Chr17:44350750 [GRCh38]
Chr17:42428118 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.698C>A (p.Pro233Gln) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854475]|Seizure [RCV000720499]|not provided [RCV000084450] Chr17:44350790 [GRCh38]
Chr17:42428158 [GRCh37]
Chr17:17q21.31		 uncertain significance|not provided
NM_002087.4(GRN):c.708C>T (p.Asn236=) single nucleotide variant not provided [RCV000084451] Chr17:44350800 [GRCh38]
Chr17:42428168 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.708+1G>C single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001384760]|not provided [RCV000084452] Chr17:44350801 [GRCh38]
Chr17:42428169 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN)