MTOR (mechanistic target of rapamycin kinase) - Rat Genome Database

Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: MTOR (mechanistic target of rapamycin kinase) Homo sapiens
Symbol: MTOR
Name: mechanistic target of rapamycin kinase
RGD ID: 68533
Description: Enables several functions, including RNA polymerase III cis-regulatory region sequence-specific DNA binding activity; TFIIIC-class transcription factor complex binding activity; and identical protein binding activity. Involved in several processes, including cellular response to leucine; positive regulation of biosynthetic process; and positive regulation of cell migration. Acts upstream of or within negative regulation of macroautophagy and protein autophosphorylation. Located in endomembrane system; lysosomal membrane; and phagocytic vesicle. Part of TORC1 complex; TORC2 complex; and nuclear envelope. Implicated in autosomal dominant polycystic kidney disease; kidney angiomyolipoma; lung disease (multiple); prostate cancer; and type 2 diabetes mellitus. Biomarker of congestive heart failure; high grade glioma; interstitial cystitis; and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FK506 binding protein 12-rapamycin associated protein 1; FK506 binding protein 12-rapamycin associated protein 2; FK506-binding protein 12-rapamycin complex-associated protein 1; FKBP-rapamycin associated protein; FKBP12-rapamycin complex-associated protein 1; FLJ44809; FRAP; FRAP1; FRAP2; mammalian target of rapamycin; mechanistic target of rapamycin; mechanistic target of rapamycin (serine/threonine kinase); RAFT1; rapamycin and FKBP12 target 1; rapamycin associated protein FRAP2; rapamycin target protein 1; RAPT1; serine/threonine-protein kinase mTOR; SKS
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 treatment.
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl111,106,535 - 11,262,551 (-)EnsemblGRCh38hg38GRCh38
GRCh38111,106,535 - 11,273,497 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37111,166,592 - 11,322,608 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,089,179 - 11,245,153 (-)NCBINCBI36hg18NCBI36
Build 34111,100,857 - 11,256,830NCBI
Celera110,278,903 - 10,434,848 (-)NCBI
Cytogenetic Map1p36.22NCBI
HuRef110,317,883 - 10,473,910 (-)NCBIHuRef
CHM1_1111,154,542 - 11,310,885 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (ISO)
adenocarcinoma  (EXP)
AIDS-Associated Nephropathy  (IMP,ISO)
autosomal dominant polycystic kidney disease  (IMP)
autosomal recessive polycystic kidney disease  (ISO)
Breast Neoplasms  (EXP,IAGP)
Burns  (ISO)
Cardiomegaly  (ISO)
CEBALID Syndrome  (IAGP)
Cerebral Hemorrhage  (ISO)
chondrosarcoma  (ISO)
Chronic Allograft Dysfunction  (ISO)
colon cancer  (ISO)
Colonic Neoplasms  (EXP)
Colorectal Neoplasms  (IAGP)
complex cortical dysplasia with other brain malformations  (EXP)
congestive heart failure  (IEP)
crescentic glomerulonephritis  (ISO)
Diabetes Mellitus, New-Onset after Transplantation  (IMP)
Diabetic Nephropathies  (IAGP,ISO)
Drug-Induced Dyskinesia  (ISO)
end stage renal disease  (ISO)
endocrine system disease  (EXP)
epilepsy  (IAGP)
exocrine pancreatic insufficiency  (EXP)
Experimental Arthritis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (ISO)
Familial Atrial Fibrillation 6  (IAGP)
Focal Cortical Dysplasia of Taylor  (IAGP)
gastric adenocarcinoma  (IAGP)
genetic disease  (IAGP)
glioblastoma  (EXP,IAGP)
Hemimegalencephaly  (IAGP)
Hemorrhagic Shock  (ISO)
hepatocellular carcinoma  (EXP)
Hepatomegaly  (EXP)
high grade glioma  (IEP)
Hyperalgesia  (ISO)
hypertension  (EXP,ISO)
Hypertriglyceridemia  (ISO)
idiopathic interstitial pneumonia  (IMP)
Inflammation  (ISO)
intellectual disability  (IAGP)
interstitial cystitis  (IEP)
kidney angiomyolipoma  (IMP)
Left Ventricular Hypertrophy  (EXP,ISO)
Lung Injury  (IMP)
Lung Neoplasms  (ISO)
lung non-small cell carcinoma  (EXP)
lung small cell carcinoma  (IAGP)
lupus nephritis  (ISO)
Lymphatic Metastasis  (EXP)
Macrocephaly  (IAGP)
Mammary Neoplasms, Experimental  (ISO)
mantle cell lymphoma  (EXP)
melanoma  (IAGP)
Mesothelioma  (EXP)
middle cerebral artery infarction  (ISO)
muscular atrophy  (ISO)
Muscular Dystrophy, Animal  (ISO)
myocardial infarction  (ISO)
Neoplasm Metastasis  (ISO)
nephritis  (ISO)
obesity  (ISO)
osteoarthritis  (ISO)
Ovarian Neoplasms  (EXP)
pancreatic cancer  (ISO)
pancreatic carcinoma  (ISO)
papillary renal cell carcinoma  (IAGP)
Parkinsonism  (ISO)
polycystic kidney disease  (ISO)
portal hypertension  (ISO)
prostate cancer  (IDA)
Prostatic Neoplasms  (EXP)
pulmonary fibrosis  (EXP)
pulmonary hypertension  (ISO)
renal carcinoma  (IAGP)
renal cell carcinoma  (EXP,IAGP,IEP)
Renal Cell Carcinoma 1  (IAGP)
Retinal Neovascularization  (ISO)
Right Ventricular Hypertrophy  (ISO)
schizophrenia  (EXP,ISO)
Schnyder corneal dystrophy  (IAGP)
sciatic neuropathy  (ISO)
Sepsis  (ISO)
skin melanoma  (IAGP)
small cell carcinoma  (EXP)
Smith-Kingsmore Syndrome  (IAGP)
Spinal Cord Injuries  (ISO)
Sporadic Papillary Renal Cell Carcinoma  (IAGP)
status epilepticus  (ISO)
T-cell acute lymphoblastic leukemia  (EXP)
temporal lobe epilepsy  (ISO)
Temporomandibular Joint Disorders  (ISO)
toxic encephalopathy  (EXP)
transitional cell carcinoma  (IAGP)
type 2 diabetes mellitus  (IAGP,ISO)
ureteral obstruction  (ISO)
urinary bladder cancer  (ISO)
uterine cancer  (IAGP)
Uterine Cervical Neoplasms  (EXP,IAGP)
vascular dementia  (ISO)
visual epilepsy  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+)-Tetrandrine  (EXP)
(-)-Arctigenin  (EXP)
(20S)-ginsenoside Rh2  (EXP)
(S)-nicotine  (EXP,ISO)
1,1'-azobis(N,N-dimethylformamide)  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dichloropropan-2-ol  (EXP)
1,4-phenylenediamine  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-chloroethanol  (ISO)
2-deoxy-D-glucose  (EXP)
20-hydroxyecdysone  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3-bromopyruvic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-methyladenine  (EXP,ISO)
4'-epidoxorubicin  (ISO)
4-hydroxynon-2-enal  (EXP)
4-nonylphenol  (ISO)
4-phenylbutyric acid  (EXP)
5'-S-methyl-5'-thioadenosine  (EXP)
5,6alpha-epoxy-5alpha-cholestan-3beta-ol  (ISO)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
7-ketocholesterol  (ISO)
9-cis-retinoic acid  (ISO)
acadesine  (EXP,ISO)
acetaldehyde  (EXP)
acetylsalicylic acid  (EXP)
afimoxifene  (EXP)
AICA ribonucleotide  (EXP,ISO)
Ajugasterone C  (EXP)
aldehydo-D-glucose  (EXP,ISO)
alpha-naphthoflavone  (EXP)
alternariol  (ISO)
amino acid  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
androst-4-ene-3,17-dione  (EXP)
antroquinonol  (EXP)
arachidonic acid  (EXP)
arecoline  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
artesunate  (EXP)
Asiaticoside  (ISO)
astragaloside IV  (ISO)
atrazine  (ISO)
aucubin  (EXP)
Auriculasin  (EXP)
azathioprine  (EXP)
bafilomycin A1  (ISO)
baicalein  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-thujaplicin  (ISO)
betalain  (EXP)
betulin  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
butan-1-ol  (ISO)
butyric acid  (EXP)
C.I. Natural Red 20  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calciol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
calix[6]arene  (EXP)
camptothecin  (EXP)
cannabidiol  (EXP)
capsaicin  (EXP)
carbon disulfide  (ISO)
carbon nanotube  (ISO)
carnosic acid  (EXP)
celastrol  (ISO)
cepharanthine  (EXP)
chicoric acid  (ISO)
chloroethene  (ISO)
chloroquine  (EXP,ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
chromium(6+)  (EXP,ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (ISO)
corticosterone  (ISO)
Corynoxine B  (EXP)
creatine  (ISO)
cucurbitacin E  (EXP,ISO)
curcumin  (EXP,ISO)
Curcumol  (ISO)
cyclosporin A  (ISO)
D-glucose  (EXP,ISO)
dapagliflozin  (ISO)
daunorubicin  (EXP)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (EXP,ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
Dictamnine  (EXP)
dieckol  (EXP)
dieldrin  (EXP)
Dihydrotanshinone I  (EXP)
dimercaprol  (EXP)
dioscin  (EXP)
dioxygen  (EXP,ISO)
dodecanoic acid  (ISO)
dopamine  (EXP)
dorsomorphin  (EXP,ISO)
doxorubicin  (ISO)
elemental selenium  (ISO)
erlotinib hydrochloride  (EXP)
ethanol  (EXP,ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
etoposide  (EXP)
everolimus  (EXP,ISO)
fenvalerate  (ISO)
fingolimod hydrochloride  (EXP)
flavanones  (EXP)
flavokawain B  (EXP)
fluoxetine  (ISO)
fulvestrant  (EXP)
Fusaric acid  (ISO)
galangin  (EXP)
gefitinib  (EXP)
geraniol  (EXP)
gingerol  (EXP)
ginsenoside Rg1  (EXP,ISO)
glucose  (EXP,ISO)
glycerol 2-phosphate  (EXP)
glycyrrhizinic acid  (ISO)
glyphosate  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
gossypetin  (EXP)
graphene oxide  (EXP,ISO)
hexachlorobenzene  (ISO)
hexadecanoic acid  (EXP,ISO)
HU-308  (ISO)
hydrogen peroxide  (EXP,ISO)
icariin  (ISO)
icariside II  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
kahweol  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
lapatinib  (EXP)
lead diacetate  (ISO)
lead nitrate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
letrozole  (EXP)
linsidomine  (ISO)
lipopolysaccharide  (EXP,ISO)
lithium atom  (ISO)
lithium chloride  (ISO)
lithium hydride  (ISO)
Lupiwighteone  (EXP)
LY294002  (EXP,ISO)
magnesium atom  (ISO)
maneb  (ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (EXP,ISO)
melatonin  (EXP)
mesalamine  (ISO)
metformin  (EXP,ISO)
methamphetamine  (EXP,ISO)
methapyrilene  (ISO)
methyl caffeate  (EXP)
methylisothiazolinone  (EXP)
methyllycaconitine  (EXP)
methylmercury chloride  (ISO)
methylphenidate  (ISO)
microcystin-LR  (ISO)
mifepristone  (EXP)
MK-2206  (EXP,ISO)
morin  (EXP)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-methyl-N-nitrosourea  (ISO)
N-methylnicotinate  (ISO)
N-nitrosodiethylamine  (ISO)
naringin  (ISO)
navitoclax  (EXP)
Neferine  (ISO)
niclosamide  (EXP)
nicotinamide  (EXP)
nicotine  (EXP,ISO)
nicotinic acid  (ISO)
nitric oxide  (ISO)
nobiletin  (ISO)
Nonylphenol  (ISO)
ochratoxin A  (EXP)
oleanolic acid  (EXP)
oligopeptide  (EXP)
omacetaxine mepesuccinate  (EXP)
oxaliplatin  (EXP,ISO)
ozone  (ISO)
p-cresol  (EXP)
paclitaxel  (EXP)
paeoniflorin  (ISO)
Paeonol  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
patulin  (EXP)
PD 0325901  (ISO)
Pentoxifylline  (ISO)
perfluorooctanoic acid  (ISO)
perfluoroundecanoic acid  (ISO)
perhexiline  (EXP)
perifosine  (ISO)
phenylarsine oxide  (EXP)
phenylephrine  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
phosphatidic acid  (EXP,ISO)
piclamilast  (ISO)
pioglitazone  (EXP)
pirinixic acid  (ISO)
platycodin D  (EXP)
pravastatin  (EXP)
progesterone  (EXP,ISO)
promethazine  (EXP)
prostaglandin E2  (ISO)
puerarin  (EXP,ISO)
quercetin  (EXP,ISO)
radon atom  (EXP,ISO)
radon(0)  (EXP,ISO)
reactive oxygen species  (EXP)
Rebamipide  (EXP)
rebaudioside A  (ISO)
resveratrol  (EXP,ISO)
ribavirin  (EXP)
ridaforolimus  (EXP)
rotenone  (EXP,ISO)
rottlerin  (EXP)
Salidroside  (ISO)
sarpogrelate  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
selenium atom  (ISO)
serotonin  (EXP)
serpentine asbestos  (EXP)
Shikonin  (EXP)
silicon dioxide  (ISO)
simvastatin  (ISO)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sonidegib  (ISO)
sorafenib  (EXP)
steviol  (ISO)
stevioside  (ISO)
stilbenoid  (EXP)
streptozocin  (ISO)
T-2 toxin  (ISO)
tamoxifen  (EXP,ISO)
taurine  (ISO)
tauroursodeoxycholic acid  (EXP)
temozolomide  (EXP,ISO)
Temsirolimus  (EXP,ISO)
testosterone  (ISO)
tetrahydropalmatine  (EXP)
tetramethylpyrazine  (ISO)
theobromine  (ISO)
thioacetamide  (ISO)
Thiorphan  (EXP)
thymoquinone  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
torin 1  (EXP)
trabectedin  (EXP)
trans-piceid  (EXP)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (ISO)
trifluoperazine  (ISO)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
tris(2-chloroethyl) phosphate  (EXP)
tungsten  (ISO)
tunicamycin  (ISO)
tyrphostin AG 1478  (ISO)
ursolic acid  (EXP)
usnic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)
wortmannin  (EXP)
XL765  (ISO)
Y-27632  (EXP)
Yessotoxin  (EXP)
zearalenone  (ISO)
zidovudine  (ISO)
zinc oxide  (ISO)
zinc pyrithione  (EXP)
zingerone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
'de novo' pyrimidine nucleobase biosynthetic process  (IEA)
activation of protein kinase B activity  (TAS)
anoikis  (NAS)
behavioral response to pain  (IEA)
brain development  (ISO)
cardiac cell development  (IEA)
cardiac muscle cell development  (IEA,ISO)
cardiac muscle contraction  (IEA,ISO)
cardiac muscle tissue development  (IEA,ISO)
cell aging  (ISO)
cell projection organization  (IEA,ISO)
cellular response to amino acid starvation  (IDA)
cellular response to amino acid stimulus  (IDA)
cellular response to hypoxia  (IEA,ISS)
cellular response to leucine  (IDA)
cellular response to leucine starvation  (IDA)
cellular response to nutrient levels  (IEA,ISS)
cellular response to starvation  (IDA)
energy reserve metabolic process  (IEA,ISO)
germ cell development  (IEA,ISO)
heart morphogenesis  (IEA,ISO)
heart valve morphogenesis  (IEA,ISO)
inflammatory response  (IEA)
long-term memory  (ISO)
lysosome organization  (IDA)
maternal process involved in female pregnancy  (ISO)
mRNA stabilization  (ISO)
multicellular organism growth  (IEA,ISO)
negative regulation of autophagy  (IDA,IEA,IMP,ISO,ISS)
negative regulation of calcineurin-NFAT signaling cascade  (IEA,ISO)
negative regulation of cell size  (IEA,ISO)
negative regulation of cholangiocyte apoptotic process  (ISO)
negative regulation of iodide transmembrane transport  (ISO)
negative regulation of macroautophagy  (IBA,IDA,IEA)
negative regulation of muscle atrophy  (ISO)
negative regulation of protein phosphorylation  (ISO)
negative regulation of protein ubiquitination  (ISO)
neuronal action potential  (IEA)
nucleus localization  (IDA)
peptidyl-serine phosphorylation  (IDA,IEA,IMP,ISO,ISS)
peptidyl-threonine phosphorylation  (IEA,ISO)
phosphorylation  (IDA,IEA)
positive regulation of actin filament polymerization  (IEA,ISO)
positive regulation of cell death  (ISO)
positive regulation of cell growth involved in cardiac muscle cell development  (ISO)
positive regulation of cellular protein metabolic process  (IEA)
positive regulation of cholangiocyte proliferation  (ISO)
positive regulation of cytoplasmic translational initiation  (TAS)
positive regulation of dendritic spine development  (ISO)
positive regulation of eating behavior  (ISO)
positive regulation of endothelial cell proliferation  (ISO)
positive regulation of epithelial to mesenchymal transition  (IMP)
positive regulation of gene expression  (IMP)
positive regulation of glial cell proliferation  (ISO)
positive regulation of granulosa cell proliferation  (ISO)
positive regulation of keratinocyte migration  (IMP)
positive regulation of lamellipodium assembly  (IEA,ISO)
positive regulation of lipid biosynthetic process  (IMP)
positive regulation of myotube differentiation  (IEA,ISO)
positive regulation of neurogenesis  (ISO)
positive regulation of neuron death  (ISO)
positive regulation of neuron maturation  (ISO)
positive regulation of neuron projection development  (ISO)
positive regulation of nitric oxide biosynthetic process  (ISO)
positive regulation of oligodendrocyte differentiation  (IEA,ISO)
positive regulation of peptidyl-tyrosine phosphorylation  (IEA,ISO)
positive regulation of phosphoprotein phosphatase activity  (TAS)
positive regulation of protein kinase B signaling  (ISO)
positive regulation of protein phosphorylation  (IEA,ISO)
positive regulation of sensory perception of pain  (ISO)
positive regulation of skeletal muscle hypertrophy  (ISO)
positive regulation of smooth muscle cell proliferation  (ISO)
positive regulation of stress fiber assembly  (IEA,ISO)
positive regulation of transcription by RNA polymerase III  (IMP)
positive regulation of transcription of nucleolar large rRNA by RNA polymerase I  (IMP)
positive regulation of translation  (IDA,ISO)
positive regulation of wound healing, spreading of epidermal cells  (IMP)
post-embryonic development  (IEA,ISO)
primary metabolic process  (IEA)
protein autophosphorylation  (IDA,ISO)
protein catabolic process  (TAS)
protein phosphorylation  (IDA,IEA,IMP,ISO)
regulation of actin cytoskeleton organization  (IMP)
regulation of autophagy  (IEA)
regulation of brown fat cell differentiation  (ISO)
regulation of carbohydrate metabolic process  (ISO)
regulation of carbohydrate utilization  (ISO)
regulation of cell growth  (IDA)
regulation of cell size  (IMP)
regulation of cellular macromolecule biosynthetic process  (IEA)
regulation of cellular response to heat  (TAS)
regulation of cellular response to stress  (IEA)
regulation of circadian rhythm  (IEA,ISS)
regulation of fatty acid beta-oxidation  (ISO)
regulation of glycogen biosynthetic process  (ISO)
regulation of GTPase activity  (IEA,ISO)
regulation of locomotor rhythm  (IEA,ISS)
regulation of macroautophagy  (TAS)
regulation of membrane permeability  (IEA,ISO)
regulation of myelination  (IEA,ISO)
regulation of osteoclast differentiation  (IEA,ISS)
regulation of protein kinase activity  (IEA,ISO)
regulation of protein kinase B signaling  (IEA,ISO)
regulation of protein phosphorylation  (IEA,ISO)
regulation of response to food  (ISO)
regulation of signal transduction by p53 class mediator  (TAS)
regulation of translation at synapse, modulating synaptic transmission  (ISO)
response to activity  (ISO)
response to amino acid  (IDA,IEA,ISO)
response to cocaine  (ISO)
response to heat  (IEA)
response to insulin  (IEA,ISO)
response to morphine  (ISO)
response to nutrient  (IMP)
response to nutrient levels  (IDA)
rhythmic process  (IEA)
ruffle organization  (IEA,ISO)
social behavior  (ISO)
spinal cord development  (ISO)
T-helper 1 cell lineage commitment  (IEA)
TOR signaling  (IEA,IMP,NAS)
TORC1 signaling  (IBA,IDA,IMP)
visual learning  (ISO)
voluntary musculoskeletal movement  (IEA,ISO)
wound healing  (ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corpus callosum morphology  (IAGP)
Abnormal facial shape  (IAGP)
Adult onset  (IAGP)
Allergy  (IAGP)
Asthma  (IAGP)
Astrocytosis  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Cafe-au-lait spot  (IAGP)
Capillary malformation  (IAGP)
Cognitive impairment  (IAGP)
Cortical dysplasia  (IAGP)
Cryptorchidism  (IAGP)
Curly hair  (IAGP)
Cutaneous melanoma  (IAGP)
Decreased circulating IgA level  (IAGP)
Deep palmar crease  (IAGP)
Deep plantar creases  (IAGP)
Depressed nasal bridge  (IAGP)
Diastasis recti  (IAGP)
Downslanted palpebral fissures  (IAGP)
Feeding difficulties  (IAGP)
Focal cortical dysplasia type II  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal white matter lesions  (IAGP)
Focal-onset seizure  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Generalized-onset seizure  (IAGP)
Glioblastoma multiforme  (IAGP)
Global developmental delay  (IAGP)
Hemangioma  (IAGP)
Hemimegalencephaly  (IAGP)
Hemiparesis  (IAGP)
High forehead  (IAGP)
Hyperactivity  (IAGP)
Hypertelorism  (IAGP)
Hypoglycemia  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intestinal polyp  (IAGP)
Lactose intolerance  (IAGP)
Large for gestational age  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Megalencephaly  (IAGP)
Midface retrusion  (IAGP)
Neonatal hypoglycemia  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neurological speech impairment  (IAGP)
Open mouth  (IAGP)
Perisylvian polymicrogyria  (IAGP)
Pes planus  (IAGP)
Polymicrogyria  (IAGP)
Prominent forehead  (IAGP)
Protuberant abdomen  (IAGP)
Rhizomelia  (IAGP)
Seizure  (IAGP)
Short chin  (IAGP)
Short distal phalanx of finger  (IAGP)
Short nose  (IAGP)
Short proximal phalanx of finger  (IAGP)
Smooth philtrum  (IAGP)
Somatic mutation  (IAGP)
Specific learning disability  (IAGP)
Sporadic  (IAGP)
Strabismus  (IAGP)
Thin upper lip vermilion  (IAGP)
Thoracic hypoplasia  (IAGP)
Thrombocytopenia  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Umbilical hernia  (IAGP)
Ventriculomegaly  (IAGP)
Wide anterior fontanel  (IAGP)
Wide mouth  (IAGP)

References - curated
1. Agata N, etal., Muscle Nerve. 2009 Apr;39(4):456-62. doi: 10.1002/mus.21103.
2. Alperovich G, etal., Lupus. 2007;16(1):18-24.
3. Anderson S, etal., Am J Physiol Renal Physiol. 2012 Mar 1;302(5):F636-45. doi: 10.1152/ajprenal.00265.2011. Epub 2011 Dec 7.
4. Asante CO, etal., J Pain. 2010 Dec;11(12):1356-67. doi: 10.1016/j.jpain.2010.03.013. Epub 2010 May 8.
5. Boluyt MO, etal., Cardiovasc Drugs Ther. 2004 Jul;18(4):257-67.
6. Carames B, etal., Ann Rheum Dis. 2012 Apr;71(4):575-81. doi: 10.1136/annrheumdis-2011-200557. Epub 2011 Nov 14.
7. Dabydeen DA, etal., Eur J Cancer. 2012 Jul;48(10):1519-24. doi: 10.1016/j.ejca.2012.03.012. Epub 2012 Apr 5.
8. Decressac M and Bjorklund A, J Parkinsons Dis. 2013;3(1):13-7. doi: 10.3233/JPD-120155.
9. Ding L, etal., Neoplasia. 2014 Nov 20;16(11):909-17. doi: 10.1016/j.neo.2014.08.010. eCollection 2014 Nov.
10. GOA_HUMAN data from the GO Consortium
11. Hao J, etal., Exp Cell Res. 2013 Aug 15;319(14):2296-306. doi: 10.1016/j.yexcr.2013.06.013. Epub 2013 Jul 1.
12. Harston RK, etal., Am J Physiol Heart Circ Physiol. 2011 May;300(5):H1696-706. doi: 10.1152/ajpheart.00545.2010. Epub 2011 Feb 25.
13. Houssaini A, etal., Am J Respir Cell Mol Biol. 2013 May;48(5):568-77. doi: 10.1165/rcmb.2012-0429OC.
14. Hu LY, etal., Neuroscience. 2010 Sep 1;169(3):1046-62. doi: 10.1016/j.neuroscience.2010.05.046. Epub 2010 Jun 1.
15. Inoki K, etal., J Clin Invest. 2011 Jun;121(6):2181-96. doi: 10.1172/JCI44771. Epub 2011 May 23.
16. Jiang W, etal., Biomed Res Int. 2017;2017:6501385. doi: 10.1155/2017/6501385. Epub 2017 Feb 9.
17. Kazi AA, etal., Shock. 2011 Feb;35(2):117-25. doi: 10.1097/SHK.0b013e3181ecb57c.
18. Kim WY, etal., Nephrology (Carlton). 2012 Feb;17(2):148-59. doi: 10.1111/j.1440-1797.2011.01541.x.
19. Kirsch AH, etal., Am J Physiol Renal Physiol. 2012 Aug 15;303(4):F569-75. doi: 10.1152/ajprenal.00180.2012. Epub 2012 Jun 13.
20. Kurayama R, etal., Lab Invest. 2011 Jul;91(7):992-1006. doi: 10.1038/labinvest.2011.43. Epub 2011 Mar 14.
21. Kurdian M, etal., PLoS One. 2012;7(3):e32516. doi: 10.1371/journal.pone.0032516. Epub 2012 Mar 12.
22. Laplante M and Sabatini DM, Cell. 2012 Apr 13;149(2):274-93. doi: 10.1016/j.cell.2012.03.017.
23. Li PP, etal., J Ethnopharmacol. 2012 May 7;141(1):290-300. doi: 10.1016/j.jep.2012.02.034. Epub 2012 Feb 27.
24. Li W, etal., Circ Res. 2007 Jan 5;100(1):79-87. Epub 2006 Nov 16.
25. Li XY, etal., J Neurooncol. 2011 Jul;103(3):453-8. doi: 10.1007/s11060-010-0424-1. Epub 2010 Sep 29.
26. Liang MC, etal., Oncogene. 2010 Mar 18;29(11):1588-97. doi: 10.1038/onc.2009.452. Epub 2009 Dec 7.
27. Liao Q, etal., Eur J Pharmacol. 2010 Sep 1;641(2-3):179-86. doi: 10.1016/j.ejphar.2010.05.024. Epub 2010 Jun 4.
28. Lu Q, etal., J Neuroinflammation. 2014 Mar 6;11:44. doi: 10.1186/1742-2094-11-44.
29. Ma SK, etal., Chonnam Med J. 2012 Dec;48(3):150-4. doi: 10.4068/cmj.2012.48.3.150. Epub 2012 Dec 21.
30. Ma XM and Blenis J, Nat Rev Mol Cell Biol. 2009 May;10(5):307-18. Epub 2009 Apr 2.
31. Ma YQ, etal., Mol Med Rep. 2013 Feb;7(2):623-7. doi: 10.3892/mmr.2012.1186. Epub 2012 Nov 15.
32. Macias M, etal., PLoS One. 2013 May 28;8(5):e64455. doi: 10.1371/journal.pone.0064455. Print 2013.
33. Malagelada C, etal., J Neurosci. 2010 Jan 20;30(3):1166-75. doi: 10.1523/JNEUROSCI.3944-09.2010.
34. Maroto JP, etal., J Clin Oncol. 2011 May 1;29(13):1750-6. doi: 10.1200/JCO.2010.29.2235. Epub 2011 Mar 28.
35. Marshall S Sci STKE. 2006 Aug 1;2006(346):re7.
36. Martins CEC, etal., Physiol Rep. 2017 May;5(10). pii: 5/10/e13273. doi: 10.14814/phy2.13273.
37. Meffre J, etal., EMBO Mol Med. 2012 Oct;4(10):1043-56. doi: 10.1002/emmm.201201410.
38. Mourouzis I, etal., Metabolism. 2013 Oct;62(10):1387-93. doi: 10.1016/j.metabol.2013.05.008. Epub 2013 Jun 15.
39. Nakagawa S, etal., Eur J Pharmacol. 2012 Dec 5;696(1-3):143-54. doi: 10.1016/j.ejphar.2012.09.010. Epub 2012 Sep 26.
40. OMIM Disease Annotation Pipeline
41. Perez J, etal., PLoS One. 2012;7(6):e32458. doi: 10.1371/journal.pone.0032458. Epub 2012 Jun 27.
42. Pipeline to import KEGG annotations from KEGG into RGD
43. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
44. Pool SE, etal., Cancer Res. 2013 Jan 1;73(1):12-8. doi: 10.1158/0008-5472.CAN-11-2089. Epub 2012 Nov 13.
45. Pratheeshkumar P, etal., PLoS One. 2012;7(10):e47516. doi: 10.1371/journal.pone.0047516. Epub 2012 Oct 18.
46. Puzio-Kuter AM, etal., Genes Dev. 2009 Mar 15;23(6):675-80. doi: 10.1101/gad.1772909. Epub 2009 Mar 4.
47. Rai P, etal., Am J Physiol Renal Physiol. 2013 May 15.
48. Ren XS, etal., PLoS One. 2014 Jan 30;9(1):e87660. doi: 10.1371/journal.pone.0087660. eCollection 2014.
49. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
50. RGD automated import pipeline for gene-chemical interactions
51. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
52. Risson V, etal., J Cell Biol. 2009 Dec 14;187(6):859-74. doi: 10.1083/jcb.200903131.
53. Schenkel PC, etal., Mol Cell Biochem. 2010 Aug;341(1-2):1-8. doi: 10.1007/s11010-010-0431-8. Epub 2010 Mar 30.
54. Schultz L, etal., Am J Surg Pathol. 2011 Oct;35(10):1549-56. doi: 10.1097/PAS.0b013e31822895e5.
55. Shi GD, etal., Biochem Biophys Res Commun. 2011 Jan 28;404(4):941-5. doi: 10.1016/j.bbrc.2010.12.085. Epub 2010 Dec 23.
56. Shojaei-Zarghani S, etal., Biomed Pharmacother. 2021 Feb;134:111140. doi: 10.1016/j.biopha.2020.111140. Epub 2020 Dec 24.
57. Sipula IJ, etal., Metabolism. 2006 Dec;55(12):1637-44.
58. Soliman A, etal., Transplant Proc. 2012 Dec;44(10):2936-9. doi: 10.1016/j.transproceed.2012.06.073.
59. Song X, etal., Am J Physiol Cell Physiol. 2010 Dec;299(6):C1256-66. doi: 10.1152/ajpcell.00338.2010. Epub 2010 Sep 22.
60. Staehler M, etal., Int Urol Nephrol. 2012 Dec;44(6):1657-61. doi: 10.1007/s11255-012-0292-z. Epub 2012 Sep 28.
61. Storozhuk Y, etal., Br J Cancer. 2013 May 28;108(10):2021-32. doi: 10.1038/bjc.2013.187. Epub 2013 Apr 30.
62. Wang SJ, etal., Brain Res. 2012 Dec 1. pii: S0006-8993(12)01821-5. doi: 10.1016/j.brainres.2012.11.027.
63. Wang W, etal., PLoS One. 2014 Jan 3;9(1):e83908. doi: 10.1371/journal.pone.0083908. eCollection 2014.
64. Wen ZH, etal., Oncogene. 2013 Jan 10;32(2):160-70. doi: 10.1038/onc.2012.47. Epub 2012 Feb 20.
65. Xia X, etal., PLoS One. 2013 Oct 28;8(10):e77823. doi: 10.1371/journal.pone.0077823. eCollection 2013.
66. Xie R, etal., J Neurochem. 2013 Dec;127(5):723-32. doi: 10.1111/jnc.12342. Epub 2013 Jul 8.
67. Xin-Long C, etal., Burns. 2011 Feb;37(1):86-93. doi: 10.1016/j.burns.2010.04.005. Epub 2010 Jul 1.
68. Xiong X, etal., Neurobiol Dis. 2014 Jun;66:43-52. doi: 10.1016/j.nbd.2014.02.006. Epub 2014 Feb 27.
69. Xu JT, etal., J Clin Invest. 2014 Feb;124(2):592-603. doi: 10.1172/JCI70236. Epub 2014 Jan 2.
70. Yagasaki R, etal., Biol Pharm Bull. 2014;37(11):1838-42.
71. Yang J, etal., J Biol Chem. 2012 Jul 13;287(29):24795-806. doi: 10.1074/jbc.M112.344259. Epub 2012 May 29.
72. Yang W, etal., BJU Int. 2012 Dec;110(11 Pt C):E1138-46. doi: 10.1111/j.1464-410X.2012.11299.x. Epub 2012 Jun 28.
73. Zeng LH, etal., J Neurosci. 2009 May 27;29(21):6964-72. doi: 10.1523/JNEUROSCI.0066-09.2009.
74. Zhang L, etal., Sichuan Da Xue Xue Bao Yi Xue Ban. 2015 Jan;46(1):47-50.
75. Zhang L, etal., Transplantation. 2013 Nov 15;96(9):782-90. doi: 10.1097/TP.0b013e3182a2034f.
76. Zhang M, etal., Apoptosis. 2013 Apr;18(4):423-34. doi: 10.1007/s10495-013-0811-0.
77. Zhang Y, etal., Ann Rheum Dis. 2014 Mar 20. doi: 10.1136/annrheumdis-2013-204599.
78. Zhao Y, etal., Fitoterapia. 2014 Dec;99:318-27. doi: 10.1016/j.fitote.2014.10.009. Epub 2014 Oct 16.
79. Zhu Y, etal., Neurol Sci. 2013 Jul;34(7):1093-7. doi: 10.1007/s10072-012-1209-4. Epub 2012 Oct 9.
Additional References at PubMed
PMID:7539137   PMID:7809080   PMID:7822316   PMID:8008069   PMID:8083223   PMID:8660990   PMID:8662507   PMID:9092573   PMID:9099849   PMID:9405468   PMID:9434772   PMID:9465032  
PMID:9653645   PMID:10089303   PMID:10200280   PMID:10325225   PMID:10364159   PMID:10567431   PMID:10660304   PMID:10664457   PMID:10698949   PMID:10702316   PMID:10753870   PMID:10779345  
PMID:10910062   PMID:10942774   PMID:10971657   PMID:11114166   PMID:11279232   PMID:11287630   PMID:11426320   PMID:11438723   PMID:11602639   PMID:11691836   PMID:11691993   PMID:11729323  
PMID:11733037   PMID:11777913   PMID:11853878   PMID:11884412   PMID:11914378   PMID:11930000   PMID:11967149   PMID:12000755   PMID:12030785   PMID:12080086   PMID:12105188   PMID:12145207  
PMID:12150925   PMID:12150926   PMID:12172553   PMID:12231510   PMID:12242281   PMID:12271141   PMID:12370290   PMID:12408816   PMID:12477932   PMID:12558800   PMID:12604610   PMID:12665511  
PMID:12718876   PMID:12719976   PMID:12747827   PMID:12796477   PMID:12807916   PMID:12813467   PMID:12820960   PMID:12912989   PMID:14578359   PMID:14668532   PMID:14679009   PMID:14729629  
PMID:14743216   PMID:14970221   PMID:15001544   PMID:15004009   PMID:15028555   PMID:15056668   PMID:15066126   PMID:15150271   PMID:15161933   PMID:15218033   PMID:15268862   PMID:15284440  
PMID:15292274   PMID:15317677   PMID:15342556   PMID:15388791   PMID:15452223   PMID:15459249   PMID:15467718   PMID:15489334   PMID:15489897   PMID:15496972   PMID:15522880   PMID:15539461  
PMID:15576463   PMID:15580312   PMID:15584862   PMID:15604215   PMID:15605414   PMID:15623621   PMID:15624760   PMID:15632115   PMID:15632201   PMID:15657358   PMID:15659381   PMID:15702344  
PMID:15708965   PMID:15718470   PMID:15723049   PMID:15755954   PMID:15760907   PMID:15767663   PMID:15772076   PMID:15796538   PMID:15802268   PMID:15809305   PMID:15843522   PMID:15854902  
PMID:15878852   PMID:15896331   PMID:15899889   PMID:15905173   PMID:15953364   PMID:16006564   PMID:16027121   PMID:16049009   PMID:16098202   PMID:16098514   PMID:16099944   PMID:16109716  
PMID:16141350   PMID:16183647   PMID:16221682   PMID:16242075   PMID:16282343   PMID:16286006   PMID:16341243   PMID:16354680   PMID:16354698   PMID:16407298   PMID:16427044   PMID:16452250  
PMID:16467080   PMID:16541103   PMID:16543150   PMID:16603397   PMID:16631613   PMID:16652388   PMID:16710414   PMID:16786123   PMID:16798736   PMID:16818690   PMID:16824195   PMID:16837165  
PMID:16847060   PMID:16849522   PMID:16870609   PMID:16874098   PMID:16884363   PMID:16912159   PMID:16912980   PMID:16914728   PMID:16915281   PMID:16916907   PMID:16919458   PMID:16922504  
PMID:16927414   PMID:16929481   PMID:16954686   PMID:16959214   PMID:16962653   PMID:16963469   PMID:17016437   PMID:17018601   PMID:17028174   PMID:17043309   PMID:17052453   PMID:17075574  
PMID:17102641   PMID:17110454   PMID:17114181   PMID:17148612   PMID:17148679   PMID:17215282   PMID:17253963   PMID:17277771   PMID:17289850   PMID:17318075   PMID:17329400   PMID:17329620  
PMID:17351147   PMID:17360675   PMID:17363738   PMID:17372934   PMID:17386266   PMID:17409838   PMID:17461779   PMID:17463046   PMID:17470430   PMID:17482291   PMID:17483438   PMID:17488873  
PMID:17545512   PMID:17553806   PMID:17562705   PMID:17562865   PMID:17565979