Atm (ataxia telangiectasia mutated) - Rat Genome Database

Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: Atm (ataxia telangiectasia mutated) Mus musculus
Symbol: Atm
Name: ataxia telangiectasia mutated
RGD ID: 10199
Description: Enables histone H2AXS139 kinase activity. Involved in several processes, including cellular response to retinoic acid; negative regulation of TORC1 signaling; and regulation of macromolecule biosynthetic process. Acts upstream of or within several processes, including immune system development; intracellular signal transduction; and meiotic nuclear division. Located in cytoplasm; microtubule cytoskeleton; and nucleus. Is extrinsic component of synaptic vesicle membrane. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system; nervous system; and sensory organ. Used to study ataxia telangiectasia. Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); endocrine gland cancer (multiple); lung carcinoma (multiple); neurodegenerative disease (multiple); and senile cataract. Orthologous to human ATM (ATM serine/threonine kinase).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: A-T mutated homolog; AI256621; ataxia telangiectasia gene mutated in human beings; ataxia telangiectasia mutated homolog; C030026E19Rik; serine-protein kinase ATM
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm39953,348,422 - 53,448,125 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl953,350,449 - 53,448,040 (-)EnsemblGRCm39 Ensembl
GRCm38953,437,122 - 53,536,828 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl953,439,149 - 53,536,740 (-)EnsemblGRCm38mm10GRCm38
MGSCv37953,245,227 - 53,344,776 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36953,201,763 - 53,298,968 (-)NCBIMGSCv36mm8
Celera950,696,862 - 50,796,451 (-)NCBICelera
Cytogenetic Map9A5.3NCBI
cM Map929.12NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
Acute Liver Failure  (IEP,ISO)
adenocarcinoma  (ISO)
adenoid cystic carcinoma  (ISO)
adrenocortical carcinoma  (ISO)
Alzheimer's disease  (ISO)
Arenaviridae infectious disease  (IMP)
arteriosclerosis  (IMP)
astroblastoma, MN1-altered  (ISO)
ataxia telangiectasia  (IAGP,IMP,ISO)
Ataxia-Telangiectasia Variant  (ISO)
B-Cell Chronic Lymphocytic Leukemia  (ISO)
beta-ketothiolase deficiency  (ISO)
bilateral breast cancer  (ISO)
bile duct cancer  (ISO)
brain cancer  (ISO)
Brain Neoplasms  (ISO)
breast cancer  (ISO)
Breast Cancer, Familial  (ISO)
breast carcinoma  (ISO)
Breast Neoplasms  (ISO)
cataract  (ISO)
cerebellar ataxia  (ISO)
Chromosome 11, Partial Trisomy 11q  (ISO)
clear cell renal cell carcinoma  (ISO)
colon cancer  (ISO)
colon carcinoma  (ISO)
Colonic Neoplasms  (ISO)
colorectal cancer  (ISO)
dilated cardiomyopathy  (ISO)
disease of cellular proliferation  (ISO)
endometrial cancer  (ISO)
endometrial carcinoma  (ISO)
endometrial serous adenocarcinoma  (ISO)
esophagus squamous cell carcinoma  (ISO)
Experimental Colitis  (IMP)
Familial Pancreatic Carcinoma  (ISO)
Familial Prostate Cancer  (ISO)
female breast cancer  (ISO)
Fibrosis  (ISO)
Gastro-Enteropancreatic Neuroendocrine Tumor  (ISO)
glioblastoma  (ISO)
Helicobacter Infections  (ISO)
hepatoblastoma  (ISO)
hepatocellular carcinoma  (ISO)
hereditary breast ovarian cancer syndrome  (ISO)
Hereditary Neoplastic Syndromes  (ISO)
herpes simplex virus keratitis  (IMP)
Herpesviridae Infections  (IMP)
high grade glioma  (ISO)
human immunodeficiency virus infectious disease  (ISO)
Hypercholesterolemia  (IMP)
IDH-mutant anaplastic astrocytoma  (ISO)
infertility  (ISO)
influenza A  (IMP)
Insulin Resistance  (ISO)
intellectual disability  (ISO)
Kidney Reperfusion Injury  (ISO)
leukemia  (ISO)
liver cancer  (IMP)
liver cirrhosis  (ISO)
lung cancer  (ISO)
lung non-small cell carcinoma  (ISO)
lung small cell carcinoma  (ISO)
lung squamous cell carcinoma  (ISO)
lymphoma  (ISO)
Lynch syndrome 1  (ISO)
mantle cell lymphoma  (ISO)
melanoma  (ISO)
Metabolic Syndrome  (IDA)
microcephaly  (ISO)
multiple endocrine neoplasia type 1  (ISO)
multiple myeloma  (ISO)
myocardial infarction  (IMP,ISO)
nasopharynx carcinoma  (ISO)
oral mucosa leukoplakia  (ISO)
oral squamous cell carcinoma  (ISO)
osteoporosis  (IMP)
Otorhinolaryngologic Neoplasms  (ISO)
ovarian cancer  (ISO)
ovarian carcinoma  (ISO)
Ovarian Neoplasms  (ISO)
pancreatic cancer  (ISO)
pancreatic carcinoma  (ISO)
papillary thyroid carcinoma  (ISO)
Parkinson's disease  (ISO)
peripheral T-cell lymphoma  (ISO)
Pneumococcal Meningitis  (IMP)
polycythemia vera  (ISO)
pre-malignant neoplasm  (ISO)
Prenatal Exposure Delayed Effects  (ISO)
primary cutaneous T-cell non-Hodgkin lymphoma  (ISO)
prostate cancer  (ISO)
prostate carcinoma in situ  (ISO)
Prostatic Neoplasms  (ISO)
Radiation Pneumonitis  (ISO)
renal cell carcinoma  (ISO)
Renal Cell Carcinoma 1  (ISO)
Retroviridae Infections  (IMP)
Rhabdoviridae Infections  (IMP)
senile cataract  (ISO)
Sepsis  (IMP)
Spinal Cord Injuries  (ISO)
squamous cell carcinoma  (ISO)
status epilepticus  (ISO)
stomach cancer  (ISO)
Stomach Neoplasms  (ISO)
Streptococcus pneumonia  (IMP)
T-cell prolymphocytic leukemia  (ISO)
thyroid cancer  (ISO)
urinary bladder cancer  (ISO)
uterine corpus cancer  (ISO)
Ventricular Dysfunction, Left  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(1->4)-beta-D-glucan  (EXP)
(1S)-bornane-2,3-dione  (ISO)
(S)-naringenin  (ISO)
(S)-nicotine  (ISO)
1,2-dichloroethane  (EXP)
1,2-dimethylhydrazine  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-methylcholine  (ISO)
3-aminobenzamide  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-amino-1,8-naphthalimide  (EXP)
4-hydroxynon-2-enal  (EXP)
5-(hydroxymethyl)cytosine  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-chloro-7-iodoquinolin-8-ol  (ISO)
5-fluorouracil  (ISO)
7,12-dimethyltetraphene  (EXP,ISO)
acetylsalicylic acid  (ISO)
acrolein  (ISO)
acrylamide  (ISO)
actinomycin D  (ISO)
Aflatoxin G1  (ISO)
aflatoxin M1  (ISO)
all-trans-retinoic acid  (ISO)
alpha-pinene  (ISO)
amphetamine  (ISO)
amphibole asbestos  (ISO)
amsacrine  (ISO)
anthocyanin  (ISO)
antimycin A  (ISO)
aphidicolin  (EXP)
aristolochic acids  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (ISO)
asbestos  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (ISO)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (EXP)
bleomycin A2  (ISO)
bortezomib  (ISO)
Brevetoxin B  (ISO)
bromoacetate  (ISO)
busulfan  (ISO)
butanal  (ISO)
Butylbenzyl phthalate  (EXP,ISO)
Butylparaben  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP,ISO)
calcitriol  (ISO)
camptothecin  (ISO)
cannabidiol  (ISO)
capsaicin  (ISO)
carbamate ester  (ISO)
carbon nanotube  (ISO)
carteolol  (ISO)
casticin  (ISO)
CGP 52608  (ISO)
chlordecone  (EXP)
chloroquine  (ISO)
chlorpyrifos  (EXP)
chromium(6+)  (EXP,ISO)
cisplatin  (EXP,ISO)
clofarabine  (ISO)
cobalt atom  (EXP)
cocaine  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (ISO)
copper(II) sulfate  (ISO)
cordycepin  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclosporin A  (ISO)
cypermethrin  (EXP)
cyproconazole  (ISO)
daunorubicin  (ISO)
Decamethylcyclopentasiloxane  (ISO)
deguelin  (ISO)
desferrioxamine B  (ISO)
diarsenic trioxide  (ISO)
diazinon  (ISO)
dibutyl phthalate  (EXP)
dichlorvos  (ISO)
dicoumarol  (ISO)
dicrotophos  (ISO)
dieldrin  (ISO)
diepoxybutane  (EXP,ISO)
diethyl maleate  (ISO)
dihydroxyacetone  (ISO)
disodium selenite  (ISO)
dorsomorphin  (ISO)
doxorubicin  (EXP,ISO)
emodin  (ISO)
endosulfan  (EXP,ISO)
epoxiconazole  (ISO)
erlotinib hydrochloride  (ISO)
ethanol  (ISO)
Ethyl maltol  (ISO)
etoposide  (EXP,ISO)
fenhexamid  (ISO)
fenthion  (EXP)
flavanones  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
FR900359  (ISO)
furan  (ISO)
furosemide  (ISO)
gadodiamide hydrate  (ISO)
gallic acid  (ISO)
geneticin  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
ginsenoside Rg1  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
hellebrigenin  (ISO)
hexamethylcyclotrisiloxane  (ISO)
hydrazine  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroxyurea  (EXP,ISO)
irinotecan  (ISO)
iron atom  (EXP,ISO)
iron trichloride  (ISO)
iron(0)  (EXP,ISO)
isocyanates  (EXP,ISO)
isoflavones  (ISO)
kaempferol  (ISO)
kojic acid  (EXP)
L-ascorbic acid  (EXP,ISO)
Lasiocarpine  (ISO)
lead diacetate  (EXP,ISO)
Licochalcone B  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
lovastatin  (ISO)
LY294002  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
melatonin  (EXP)
metformin  (ISO)
methidathion  (EXP)
methotrexate  (EXP)
methoxsalen  (ISO)
methylparaben  (ISO)
mitoxantrone  (ISO)
monocrotaline  (EXP,ISO)
motexafin gadolinium  (ISO)
myristicin  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
nickel dichloride  (EXP,ISO)
nicotine  (ISO)
nitenpyram  (ISO)
nitrates  (ISO)
nocodazole  (ISO)
O-methyleugenol  (ISO)
octamethylcyclotetrasiloxane  (ISO)
ouabain  (ISO)
oxybenzone  (ISO)
ozone  (ISO)
p-menthan-3-ol  (ISO)
paracetamol  (ISO)
paraquat  (EXP,ISO)
paromomycin  (ISO)
PCB138  (EXP)
pectolinarigenin  (ISO)
pentamidine  (ISO)
pentanal  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
phenytoin  (EXP)
phosphoramide mustard  (ISO)
pifithrin-?  (ISO)
pinostrobin  (ISO)
pirinixic acid  (EXP)
potassium bromate  (ISO)
potassium chromate  (ISO)
Pranoprofen  (ISO)
prochloraz  (ISO)
promethazine  (ISO)
propiconazole  (EXP)
propylparaben  (ISO)
pyrroloquinoline quinone  (ISO)
quercetin  (EXP,ISO)
remdesivir  (ISO)
resveratrol  (ISO)
rifampicin  (EXP,ISO)
rotenone  (ISO)
ruxolitinib  (ISO)
S-nitrosoglutathione  (ISO)
selinexor  (ISO)
silibinin  (ISO)
silicon dioxide  (EXP,ISO)
silver(1+) nitrate  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium chromate  (EXP,ISO)
sodium fluoride  (ISO)
sterigmatocystin  (ISO)
sunitinib  (ISO)
T-2 toxin  (ISO)
temozolomide  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (EXP)
thimerosal  (ISO)
tributylstannane  (EXP,ISO)
trichostatin A  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (EXP)
trovafloxacin  (EXP)
tungsten  (EXP)
usnic acid  (ISO)
valproic acid  (EXP,ISO)
veliparib  (ISO)
vinclozolin  (ISO)
vorinostat  (ISO)
wortmannin  (EXP,ISO)
yttrium chloride  (ISO)
zearalenone  (EXP)
zinc acetate  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
brain development  (IGI)
cellular response to gamma radiation  (ISO)
cellular response to ionizing radiation  (ISO)
cellular response to nitrosative stress  (ISO)
cellular response to reactive oxygen species  (ISO)
cellular response to retinoic acid  (IMP)
cellular response to X-ray  (ISO)
chromosome organization involved in meiotic cell cycle  (IMP)
determination of adult lifespan  (IGI)
DNA damage checkpoint signaling  (IBA,IMP,ISO)
DNA damage response  (IGI,ISO,TAS)
DNA double-strand break processing  (ISO)
DNA repair  (IDA,IMP)
double-strand break repair  (IBA,ISO)
double-strand break repair via homologous recombination  (IMP,ISO)
establishment of protein-containing complex localization to telomere  (ISO)
establishment of RNA localization to telomere  (ISO)
female gamete generation  (IMP)
female gonad development  (IMP)
female meiotic nuclear division  (IMP)
heart development  (IGI)
histone mRNA catabolic process  (ISO)
immune system process  (IMP)
intrinsic apoptotic signaling pathway in response to DNA damage  (IBA,IGI,IMP)
lipoprotein catabolic process  (IGI)
male meiotic nuclear division  (IMP)
meiotic telomere clustering  (IMP)
mitotic G2 DNA damage checkpoint signaling  (ISO)
mitotic spindle assembly checkpoint signaling  (ISO)
multicellular organism growth  (IMP)
negative regulation of B cell proliferation  (ISO)
negative regulation of telomere capping  (ISO)
negative regulation of TORC1 signaling  (IBA,IMP,ISO)
neuron apoptotic process  (IGI)
oocyte development  (IMP)
ovarian follicle development  (IMP)
pexophagy  (ISO)
positive regulation of apoptotic process  (ISO)
positive regulation of cell adhesion  (IMP)
positive regulation of cell migration  (ISO)
positive regulation of DNA catabolic process  (ISO)
positive regulation of DNA damage response, signal transduction by p53 class mediator  (ISO)
positive regulation of gene expression  (ISO)
positive regulation of neuron apoptotic process  (IGI,ISO)
positive regulation of telomerase catalytic core complex assembly  (ISO)
positive regulation of telomere maintenance via telomerase  (IMP)
positive regulation of telomere maintenance via telomere lengthening  (ISO)
positive regulation of transcription by RNA polymerase II  (IMP)
post-embryonic development  (IMP)
pre-B cell allelic exclusion  (IMP)
regulation of autophagy  (IMP,ISO)
regulation of cell cycle  (ISO)
regulation of microglial cell activation  (ISO)
regulation of telomere maintenance via telomerase  (ISO)
replicative senescence  (ISO)
response to hypoxia  (ISO)
response to ionizing radiation  (IGI,ISO)
signal transduction in response to DNA damage  (ISO)
somitogenesis  (IGI)
telomere maintenance  (IBA)
thymus development  (IMP)
V(D)J recombination  (IGI)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal adipose tissue distribution  (IAGP)
abnormal brain interneuron morphology  (IAGP)
abnormal CD4-positive helper T cell morphology  (IAGP)
abnormal CD4-positive T cell differentiation  (IEA)
abnormal CD8-positive, alpha-beta T cell differentiation  (IEA)
abnormal cell cycle  (IAGP)
abnormal cell cycle checkpoint function  (IAGP)
abnormal cerebellar granule cell morphology  (IAGP)
abnormal cerebellar molecular layer  (IAGP)
abnormal chromosome morphology  (IAGP)
abnormal class switch recombination  (IAGP)
abnormal DNA repair  (IAGP)
abnormal fat cell differentiation  (IAGP)
abnormal female meiosis  (IAGP)
abnormal female reproductive system morphology  (IAGP)
abnormal gait  (IAGP)
abnormal gametogenesis  (IAGP)
abnormal immune system cell morphology  (IAGP)
abnormal immune system organ morphology  (IAGP)
abnormal lymphocyte morphology  (IEA)
abnormal lysosome morphology  (IAGP)
abnormal male reproductive system morphology  (IAGP)
abnormal microglial cell physiology  (IAGP)
abnormal motor coordination/balance  (IAGP)
abnormal motor learning  (IAGP)
abnormal nervous system electrophysiology  (IAGP)
abnormal nervous system morphology  (IAGP)
abnormal neuron apoptosis  (IAGP)
abnormal oogenesis  (IAGP)
abnormal pluripotent precursor cell morphology  (IAGP)
abnormal Purkinje cell axon morphology  (IAGP)
abnormal Purkinje cell dendrite morphology  (IAGP)
abnormal Purkinje cell morphology  (IAGP)
abnormal reproductive system physiology  (IAGP)
abnormal seminiferous tubule morphology  (IAGP)
abnormal spermatid morphology  (IAGP)
abnormal spermatocyte morphology  (IAGP)
abnormal spermatogenesis  (IAGP)
abnormal synaptic physiology  (IAGP)
abnormal T cell differentiation  (IAGP)
abnormal T cell physiology  (IAGP)
abnormal testis development  (IAGP)
abnormal testis morphology  (IAGP)
abnormal testis size  (IAGP)
abnormal tumor incidence  (IAGP)
abnormal tumor susceptibility  (IAGP)
abnormal uterus morphology  (IAGP)
absent estrous cycle  (IAGP)
absent estrus  (IAGP)
absent oocytes  (IAGP)
absent ovarian follicles  (IAGP)
anemia  (IAGP)
arrest of male meiosis  (IAGP)
arrest of spermatogenesis  (IAGP)
ataxia  (IAGP)
azoospermia  (IAGP)
cerebellum atrophy  (IAGP)
chromosomal instability  (IAGP)
chromosome breakage  (IAGP)
decreased activated T cell number  (IAGP)
decreased B cell number  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased CD4-positive, alpha-beta T cell number  (IAGP)
decreased CD8-positive, alpha-beta T cell number  (IAGP)
decreased CD8-positive, naive alpha-beta T cell number  (IEA)
decreased cell proliferation  (IAGP)
decreased cellular sensitivity to gamma-irradiation  (IAGP)
decreased cellular sensitivity to ionizing radiation  (IAGP)
decreased circulating adiponectin level  (IAGP)
decreased circulating leptin level  (IAGP)
decreased double-positive T cell number  (IAGP)
decreased fibroblast proliferation  (IAGP)
decreased IgG level  (IAGP)
decreased IgG2a level  (IAGP)
decreased IgG2b level  (IAGP)
decreased IgG3 level  (IAGP)
decreased immature B cell number  (IAGP)
decreased interleukin-1 beta secretion  (IEA)
decreased locomotor activity  (IAGP)
decreased lymphocyte cell number  (IAGP)
decreased lymphoma incidence  (IAGP)
decreased macrophage cell number  (IAGP)
decreased neuron apoptosis  (IAGP)
decreased pre-B cell number  (IAGP)
decreased response to antigen  (IEA)
decreased sensitivity to induced cell death  (IAGP)
decreased single-positive T cell number  (IAGP)
decreased splenocyte number  (IAGP)
decreased subcutaneous adipose tissue amount  (IAGP)
decreased survivor rate  (IAGP)
decreased T cell number  (IAGP)
decreased thymocyte apoptosis  (IAGP)
decreased thymocyte number  (IAGP)
decreased tumor-free survival time  (IAGP)
decreased vertical activity  (IAGP)
ectopic Purkinje cell  (IAGP)
embryonic growth retardation  (IAGP)
embryonic lethality between implantation and somite formation, incomplete penetrance  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
embryonic lethality, complete penetrance  (IAGP)
enlarged spleen  (IAGP)
female infertility  (IAGP)
impaired coordination  (IAGP)
impaired glucose tolerance  (IAGP)
impaired humoral immune response  (IEA)
impaired macrophage phagocytosis  (IEA)
impaired neuron physiology  (IAGP)
impaired righting response  (IAGP)
increased adenoma incidence  (IAGP)
increased B cell number  (IAGP)
increased B-1 B cell number  (IEA)
increased B-1a cell number  (IEA)
increased brain apoptosis  (IAGP)
increased CD8-positive, alpha-beta memory T cell number  (IEA)
increased CD8-positive, alpha-beta T cell number  (IAGP)
increased cell death  (IAGP)
increased cellular sensitivity to gamma-irradiation  (IAGP)
increased cellular sensitivity to ionizing radiation  (IAGP)
increased central memory CD4-positive, alpha-beta T cell number  (IEA)
increased central memory CD8 positive, alpha-beta T cell number  (IEA)
increased double-negative T cell number  (IAGP)
increased double-positive T cell number  (IAGP)
increased effector memory CD4-positive, alpha-beta T cell number  (IEA)
increased excitatory postsynaptic current frequency  (IAGP)
increased food intake  (IAGP)
increased hepatocellular carcinoma incidence  (IAGP)
increased IgM level  (IEA)
increased leukemia incidence  (IAGP)
increased lymphoma incidence  (IAGP)
increased macrophage cell number  (IEA)
increased mortality induced by gamma-irradiation  (IAGP)
increased neuron apoptosis  (IAGP)
increased ovary tumor incidence  (IAGP)
increased sarcoma incidence  (IAGP)
increased single-positive T cell number  (IAGP)
increased T cell derived lymphoma incidence  (IAGP)
increased thymoma incidence  (IAGP)
increased tumor incidence  (IAGP)
increased tumor latency  (IAGP)
infertility  (IAGP)
insulin resistance  (IAGP)
intracranial hemorrhage  (IAGP)
lethality, incomplete penetrance  (IAGP)
male infertility  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
neurodegeneration  (IAGP)
neuron degeneration  (IAGP)
ovary degeneration  (IAGP)
oxidative stress  (IAGP)
perinatal lethality  (IAGP)
postnatal growth retardation  (IAGP)
premature death  (IAGP)
Purkinje cell degeneration  (IAGP)
seminiferous tubule degeneration  (IAGP)
short stride length  (IAGP)
slow postnatal weight gain  (IAGP)
small lymph nodes  (IAGP)
small ovary  (IAGP)
small spleen  (IAGP)
small testis  (IAGP)
small thymus  (IAGP)
spontaneous chromosome breakage  (IAGP)
thin cerebellar molecular layer  (IAGP)
thin cerebral cortex  (IAGP)
thymus cortex hypoplasia  (IAGP)

References - curated
# Reference Title Reference Citation
1. Polymorphisms of DNA damage response genes in radiation-related and sporadic papillary thyroid carcinoma. Akulevich NM, etal., Endocr Relat Cancer. 2009 Jun;16(2):491-503. doi: 10.1677/ERC-08-0336. Epub 2009 Mar 13.
2. Inhibition of ataxia telangiectasia mutated (ATM) kinase suppresses herpes simplex virus type 1 (HSV-1) keratitis. Alekseev O, etal., Invest Ophthalmol Vis Sci. 2014 Feb 3;55(2):706-15. doi: 10.1167/iovs.13-13461.
3. ATM protein overexpression in prostate tumors: possible role in telomere maintenance. Angele S, etal., Am J Clin Pathol. 2004 Feb;121(2):231-6.
4. Histopathological features of breast cancer in carriers of ATM gene variants. Balleine RL, etal., Histopathology. 2006 Nov;49(5):523-32.
5. Perturbations in ataxia telangiectasia mutant signaling pathways after drug-induced acute liver failure and their reversal during rescue of animals by cell therapy. Bandi S, etal., Am J Pathol. 2011 Jan;178(1):161-74. doi: 10.1016/j.ajpath.2010.11.001. Epub 2010 Dec 23.
6. ATM protein kinase: the linchpin of cellular defenses to stress. Bhatti S, etal., Cell Mol Life Sci. 2011 Sep;68(18):2977-3006. doi: 10.1007/s00018-011-0683-9. Epub 2011 May 2.
7. The ATM tumour suppressor gene is down-regulated in EBV-associated nasopharyngeal carcinoma. Bose S, etal., J Pathol. 2009 Feb;217(3):345-52. doi: 10.1002/path.2487.
8. Activation of ataxia telangiectasia muted under experimental models and human Parkinson's disease. Camins A, etal., Cell Mol Life Sci. 2010 Nov;67(22):3865-82. doi: 10.1007/s00018-010-0408-5. Epub 2010 May 26.
9. Atm and Bax cooperate in ionizing radiation-induced apoptosis in the central nervous system. Chong MJ, etal., Proc Natl Acad Sci U S A 2000 Jan 18;97(2):889-94.
10. Aberrant CD8+ T-cell responses and memory differentiation upon viral infection of an ataxia-telangiectasia mouse model driven by hyper-activated Akt and mTORC1 signaling. D'Souza AD, etal., Am J Pathol. 2011 Jun;178(6):2740-51. doi: 10.1016/j.ajpath.2011.02.022.
11. B Cell-Specific Expression of Ataxia-Telangiectasia Mutated Protein Kinase Promotes Chronic Gammaherpesvirus Infection. Darrah EJ, etal., J Virol. 2017 Sep 12;91(19). pii: JVI.01103-17. doi: 10.1128/JVI.01103-17. Print 2017 Oct 1.
12. Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk. Einarsdottir K, etal., Hum Mol Genet. 2007 Jan 15;16(2):154-64. Epub 2006 Dec 12.
13. Loss of the DNA Damage Repair Kinase ATM Impairs Inflammasome-Dependent Anti-Bacterial Innate Immunity. Erttmann SF, etal., Immunity. 2016 Jul 19;45(1):106-18. doi: 10.1016/j.immuni.2016.06.018. Epub 2016 Jul 12.
14. ATM activation is accompanied with earlier stages of prostate tumorigenesis. Fan C, etal., Biochim Biophys Acta. 2006 Oct;1763(10):1090-7. Epub 2006 Aug 24.
15. Anthracyclines induce DNA damage response-mediated protection against severe sepsis. Figueiredo N, etal., Immunity. 2013 Nov 14;39(5):874-84. doi: 10.1016/j.immuni.2013.08.039. Epub 2013 Oct 31.
16. Deficiency of ataxia telangiectasia mutated kinase modulates cardiac remodeling following myocardial infarction: involvement in fibrosis and apoptosis. Foster CR, etal., PLoS One. 2013 Dec 16;8(12):e83513. doi: 10.1371/journal.pone.0083513. eCollection 2013.
17. Glycine propionyl l-carnitine attenuates d-Galactosamine induced fulminant hepatic failure in wistar rats. Ganai AA, etal., Chem Biol Interact. 2014 May 5;214:33-40. doi: 10.1016/j.cbi.2014.02.006. Epub 2014 Feb 22.
18. Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. Girard E, etal., Int J Cancer. 2019 Apr 15;144(8):1962-1974. doi: 10.1002/ijc.31921. Epub 2018 Nov 13.
19. Expression of DNA double-strand break repair proteins ATM and BRCA1 predicts survival in colorectal cancer. Grabsch H, etal., Clin Cancer Res. 2006 Mar 1;12(5):1494-500. doi: 10.1158/1078-0432.CCR-05-2105.
20. ATM protein kinase mediates full activation of Akt and regulates glucose transporter 4 translocation by insulin in muscle cells. Halaby MJ, etal., Cell Signal. 2008 Aug;20(8):1555-63. doi: 10.1016/j.cellsig.2008.04.011. Epub 2008 Apr 26.
21. ATM in oral carcinogenesis: association with clinicopathological features. He Y, etal., J Cancer Res Clin Oncol. 2008 Sep;134(9):1013-20. doi: 10.1007/s00432-008-0365-7. Epub 2008 Feb 21.
22. DNA damage primes the type I interferon system via the cytosolic DNA sensor STING to promote anti-microbial innate immunity. Härtlova A, etal., Immunity. 2015 Feb 17;42(2):332-343. doi: 10.1016/j.immuni.2015.01.012.
23. Ataxia-telangiectasia mutated expression is associated with tobacco smoke exposure in esophageal cancer tissues and benzo[a]pyrene diol epoxide in cell lines. Jiang Y, etal., Int J Cancer. 2007 Jan 1;120(1):91-5. doi: 10.1002/ijc.22121.
24. Metformin: a cheap and well-tolerated drug that provides benefits for viral infections. Joven J, etal., HIV Med. 2013 Apr;14(4):233-40. doi: 10.1111/hiv.12000. Epub 2012 Nov 21.
25. ATM protein synthesis patterns in sporadic breast cancer. Kairouz R, etal., Mol Pathol. 1999 Oct;52(5):252-6.
26. Expression status of ataxia-telangiectasia-mutated gene correlated with prognosis in advanced gastric cancer. Kang B, etal., Mutat Res. 2008 Feb 1;638(1-2):17-25. doi: 10.1016/j.mrfmmm.2007.08.013. Epub 2007 Sep 1.
27. Cell cycle checkpoint abnormalities during dementia: A plausible association wi