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Aliases for ATM Gene

Aliases for ATM Gene

  • ATM Serine/Threonine Kinase 2 3 5
  • Ataxia Telangiectasia Mutated 2 3 4
  • A-T Mutated 3 4
  • EC 2.7.11.1 4 63
  • TEL1 2 3
  • Ataxia Telangiectasia Mutated (Includes Complementation Groups A, C And D) 2
  • TEL1, Telomere Maintenance 1, Homolog 3
  • Homolog (S. Cerevisiae) 2
  • Telomere Maintenance 1 2
  • AT Mutated 3
  • TELO1 3
  • ATDC 3
  • AT1 3
  • ATE 3
  • ATA 3
  • ATC 3
  • ATD 3

External Ids for ATM Gene

Previous HGNC Symbols for ATM Gene

  • ATA
  • ATDC
  • ATC
  • ATD

Previous GeneCards Identifiers for ATM Gene

  • GC11P110302
  • GC11P109450
  • GC11P107631
  • GC11P107599
  • GC11P104019
  • GC11P108093

Summaries for ATM Gene

Entrez Gene Summary for ATM Gene

  • The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]

GeneCards Summary for ATM Gene

ATM (ATM Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with ATM include ataxia-telangiectasia and t-cell prolymphocytic leukemia. Among its related pathways are Gene Expression and Cellular response to heat stress. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and binding.

UniProtKB/Swiss-Prot for ATM Gene

  • Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates Ser-139 of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation. Phosphorylates ATF2 which stimulates its function in DNA damage response.

Tocris Summary for ATM Gene

  • ATM (Ataxia telangiectasia mutated) and ATR (Ataxia telangiectasia and Rad3 related) are closely related kinases that are activated by DNA damage. They are serine-threonine protein kinases which are part of the phosphatidylinositol 3' kinase-like kinase (PIKK) enzyme family.

Gene Wiki entry for ATM Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATM Gene

Genomics for ATM Gene

Regulatory Elements for ATM Gene

Promoters for ATM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATM on UCSC Golden Path with GeneCards custom track

Genomic Location for ATM Gene

Chromosome:
11
Start:
108,222,484 bp from pter
End:
108,369,102 bp from pter
Size:
146,619 bases
Orientation:
Plus strand

Genomic View for ATM Gene

Genes around ATM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATM Gene

Proteins for ATM Gene

  • Protein details for ATM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13315-ATM_HUMAN
    Recommended name:
    Serine-protein kinase ATM
    Protein Accession:
    Q13315
    Secondary Accessions:
    • B2RNX5
    • O15429
    • Q12758
    • Q16551
    • Q93007
    • Q9NP02
    • Q9UCX7

    Protein attributes for ATM Gene

    Size:
    3056 amino acids
    Molecular mass:
    350687 Da
    Quaternary structure:
    • Dimers or tetramers in inactive state. On DNA damage, autophosphorylation dissociates ATM into monomers rendering them catalytically active. Binds p53/TP53, ABL1, BRCA1, NBN/nibrin and TERF1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with RAD17; DNA damage promotes the association. Interacts with EEF1E1; the interaction, induced on DNA damage, up-regulates TP53. Interacts with DCLRE1C, KAT8, KAT5, NABP2, ATMIN and CEP164. Interacts with AP2B1 and AP3B2; the interaction occurs in cytoplasmic vesicles (By similarity). Interacts with TELO2 and TTI1. Interacts with DDX1. Interacts with BRAT1.
    SequenceCaution:
    • Sequence=AAA86520.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAA86520.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAI37170.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI37170.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=EAW67111.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for ATM Gene

Proteomics data for ATM Gene at MOPED

Selected DME Specific Peptides for ATM Gene

Post-translational modifications for ATM Gene

  • Acetylation, on DNA damage, is required for activation of the kinase activity, dimer-monomer transition, and subsequent autophosphorylation on Ser-1981. Acetylated in vitro by KAT5/TIP60.
  • Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1893, Ser-1981 correlates with DNA damage-mediated activation of the kinase.
  • Ubiquitination at Lys 215, Lys 1109, Lys 1114, Lys 1126, Lys 1323, Lys 1572, Lys 1994, Lys 2025, Lys 2148, Lys 2160, Lys 2789, and Lys 2848
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATM (ATM)

Domains & Families for ATM Gene

Gene Families for ATM Gene

Suggested Antigen Peptide Sequences for ATM Gene

Graphical View of Domain Structure for InterPro Entry

Q13315

UniProtKB/Swiss-Prot:

ATM_HUMAN :
  • The FATC domain is required for interaction with KAT5.
  • Belongs to the PI3/PI4-kinase family. ATM subfamily.
Domain:
  • The FATC domain is required for interaction with KAT5.
  • Contains 1 FAT domain.
  • Contains 1 FATC domain.
  • Contains 1 PI3K/PI4K domain.
Family:
  • Belongs to the PI3/PI4-kinase family. ATM subfamily.
genes like me logo Genes that share domains with ATM: view

Function for ATM Gene

Molecular function for ATM Gene

GENATLAS Biochemistry:
ataxia telangiectasia,mutated,protein kinase,involved in cellular responses to ionizing radiation (IR)-induced DNA damage such as double strand breaks and cell cycle control through phosphorylation of BRCA1,homologous to cell cycle G2 checkpoint gene yeast MEC1 and related TEL1,RAD3 (S pombe),Drosophila mei-41,also homologous to yeast TOR1,TOR2, activating TP53 in association with 14.3.3 proteins YWHA*,and leading to cell cycle arrest and apoptosis,also activating ABL1 (cABL) and TP73 in a mismatch repair dependent apoptosis pathway,interacting with beta adaptin for the axonal transport and vesicle trafficking in the central nervous system,mutated (somatic mutation) in B cell chronic lymphocytic leukemia,also mutated in ataxia telangiectasia (see AT),but not mutated in childhood T-ALL,deleted in mantle cell lymphoma (see also TSG11F)
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by wortmannin.
UniProtKB/Swiss-Prot Function:
Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates Ser-139 of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation. Phosphorylates ATF2 which stimulates its function in DNA damage response.
UniProtKB/Swiss-Prot Induction:
By ionizing radiation.

Enzyme Numbers (IUBMB) for ATM Gene

Gene Ontology (GO) - Molecular Function for ATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004677 DNA-dependent protein kinase activity IDA 15790808
genes like me logo Genes that share ontologies with ATM: view

Phenotypes for ATM Gene

genes like me logo Genes that share phenotypes with ATM: view

Human Phenotype Ontology for ATM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATM Gene

MGI Knock Outs for ATM:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for ATM Gene

Localization for ATM Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATM Gene

Nucleus. Cytoplasmic vesicle. Note=Primarily nuclear. Found also in endocytic vesicles in association with beta-adaptin. {ECO:0000269 PubMed:9050866, ECO:0000269 PubMed:9150358}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATM Gene COMPARTMENTS Subcellular localization image for ATM gene
Compartment Confidence
nucleus 5
cytoskeleton 3
plasma membrane 3
cytosol 2
mitochondrion 2
endoplasmic reticulum 1
extracellular 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with ATM: view

Pathways & Interactions for ATM Gene

genes like me logo Genes that share pathways with ATM: view

Gene Ontology (GO) - Biological Process for ATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IEA --
GO:0000729 DNA double-strand break processing TAS --
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
GO:0001666 response to hypoxia IEA --
genes like me logo Genes that share ontologies with ATM: view

Drugs & Compounds for ATM Gene

(46) Drugs for ATM Gene - From: Novoseek, DGIdb, HMDB, DrugBank, ApexBio, Tocris, and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Olaparib Approved Pharma inhibitor, Biomarker, other PARP inhibitor, PARP Inhibitors, Other, Poly(ADPRIBOSE) polymerase (PARP) inhibitors 104
Caffeine Approved Nutra Antagonist, Target 339
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 1885
Floxuridine Approved Pharma Antineoplastic antimetabolite, RNA and DNA synthesis inhibitor 47
Adenosine triphosphate Approved Nutra 0

(21) Additional Compounds for ATM Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
KU 60019
925701-46-8
Mirin
1198097-97-0
genes like me logo Genes that share compounds with ATM: view

Drug Products

Transcripts for ATM Gene

Unigene Clusters for ATM Gene

Ataxia telangiectasia mutated:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATM Gene

No ASD Table

Relevant External Links for ATM Gene

GeneLoc Exon Structure for
ATM
ECgene alternative splicing isoforms for
ATM

Expression for ATM Gene

mRNA expression in normal human tissues for ATM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATM Gene

This gene is overexpressed in Colon muscle (19.6), Breast (11.3), and Peripheral blood mononuclear cells (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATM Gene



SOURCE GeneReport for Unigene cluster for ATM Gene Hs.367437

mRNA Expression by UniProt/SwissProt for ATM Gene

Q13315-ATM_HUMAN
Tissue specificity: Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes.
genes like me logo Genes that share expression patterns with ATM: view

Protein tissue co-expression partners for ATM Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ATM Gene

Orthologs for ATM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATM 35
  • 99.54 (n)
  • 99.4 (a)
ATM 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATM 36
  • 90 (a)
OneToOne
ATM 35
  • 90.74 (n)
  • 89.88 (a)
dog
(Canis familiaris)
Mammalia ATM 35
  • 89.25 (n)
  • 89.56 (a)
ATM 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atm 16
Atm 35
  • 84.99 (n)
  • 84.34 (a)
Atm 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATM 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 71 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
-- 36
  • 60 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
-- 36
  • 67 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atm 35
  • 84.09 (n)
  • 84.25 (a)
chicken
(Gallus gallus)
Aves ATM 36
  • 69 (a)
OneToOne
ATM 35
  • 72.23 (n)
  • 69.69 (a)
lizard
(Anolis carolinensis)
Reptilia ATM 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ATM 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atm 35
  • 65.99 (n)
  • 65.53 (a)
Str.19990 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5729 35
zebrafish
(Danio rerio)
Actinopterygii atm 36
  • 55 (a)
OneToMany
atm 36
  • 48 (a)
OneToMany
atm 35
  • 59.12 (n)
  • 57.56 (a)
Dr.28655 35
fruit fly
(Drosophila melanogaster)
Insecta CG6535 37
  • 27 (a)
tefu 36
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea atm-1 36
  • 18 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TEL1 36
  • 19 (a)
OneToOne
TEL1 38
rice
(Oryza sativa)
Liliopsida Os.17083 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToOne
Species with no ortholog for ATM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATM Gene

ENSEMBL:
Gene Tree for ATM (if available)
TreeFam:
Gene Tree for ATM (if available)

Paralogs for ATM Gene

Pseudogenes.org Pseudogenes for ATM Gene

genes like me logo Genes that share paralogs with ATM: view

No data available for Paralogs for ATM Gene

Variants for ATM Gene

Sequence variations from dbSNP and Humsavar for ATM Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_010838 Ataxia telangiectasia (AT)
VAR_010839 Ataxia telangiectasia (AT)
VAR_010840 Ataxia telangiectasia (AT)
rs1800060 - 108,317,409(+) TTTCC(A/G)TCTAT reference, missense
VAR_010842 T-prolymphocytic leukemia

Structural Variations from Database of Genomic Variants (DGV) for ATM Gene

Variant ID Type Subtype PubMed ID
dgv1315n71 CNV Loss 21882294
nsv898385 CNV Loss 21882294
nsv832262 CNV Loss 17160897
nsv832263 CNV Gain 17160897

Variation tolerance for ATM Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.62; 97.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATM Gene

HapMap Linkage Disequilibrium report
ATM
Human Gene Mutation Database (HGMD)
ATM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATM Gene

Disorders for ATM Gene

MalaCards: The human disease database

(54) MalaCards diseases for ATM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ataxia-telangiectasia
  • ataxia telangiectasia
t-cell prolymphocytic leukemia
  • leukemia, t-cell, chronic
chronic lymphocytic leukemia
  • cll
asphyxiating thoracic dystrophy
  • jeune syndrome
mantle cell lymphoma
  • lymphocytic choriomeningitis
- elite association - COSMIC cancer census association via MalaCards
Search ATM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATM_HUMAN
  • Ataxia telangiectasia (AT) [MIM:208900]: A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation. {ECO:0000269 PubMed:10234507, ECO:0000269 PubMed:10425038, ECO:0000269 PubMed:10817650, ECO:0000269 PubMed:10873394, ECO:0000269 PubMed:7792600, ECO:0000269 PubMed:8698354, ECO:0000269 PubMed:8755918, ECO:0000269 PubMed:8789452, ECO:0000269 PubMed:8797579, ECO:0000269 PubMed:8808599, ECO:0000269 PubMed:8845835, ECO:0000269 PubMed:9043869, ECO:0000269 PubMed:9150358, ECO:0000269 PubMed:9443866, ECO:0000269 PubMed:9450874, ECO:0000269 PubMed:9463314, ECO:0000269 PubMed:9497252, ECO:0000269 PubMed:9521587, ECO:0000269 PubMed:9711876, ECO:0000269 PubMed:9792409, ECO:0000269 PubMed:9792410, ECO:0000269 PubMed:9872980, ECO:0000269 PubMed:9887333}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in ATM contribute to T-cell acute lymphoblastic leukemia (TALL) and T-prolymphocytic leukemia (TPLL). TPLL is characterized by a high white blood cell count, with a predominance of prolymphocytes, marked splenomegaly, lymphadenopathy, skin lesions and serous effusion. The clinical course is highly aggressive, with poor response to chemotherapy and short survival time. TPLL occurs both in adults as a sporadic disease and in younger AT patients. {ECO:0000269 PubMed:9288106, ECO:0000269 PubMed:9334731, ECO:0000269 PubMed:9463314, ECO:0000269 PubMed:9488043, ECO:0000269 PubMed:9573030}.
  • Note=Defects in ATM contribute to B-cell non-Hodgkin lymphomas (BNHL), including mantle cell lymphoma (MCL). {ECO:0000269 PubMed:10397742, ECO:0000269 PubMed:10706620, ECO:0000269 PubMed:9288106}.
  • Note=Defects in ATM contribute to B-cell chronic lymphocytic leukemia (BCLL). BCLL is the commonest form of leukemia in the elderly. It is characterized by the accumulation of mature CD5+ B-lymphocytes, lymphadenopathy, immunodeficiency and bone marrow failure. {ECO:0000269 PubMed:10023947, ECO:0000269 PubMed:10397742, ECO:0000269 PubMed:9892178}.

Relevant External Links for ATM

Genetic Association Database (GAD)
ATM
Human Genome Epidemiology (HuGE) Navigator
ATM
Tumor Gene Database (TGDB):
ATM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATM
genes like me logo Genes that share disorders with ATM: view

No data available for Genatlas for ATM Gene

Publications for ATM Gene

  1. Mutations associated with variant phenotypes in ataxia- telangiectasia. (PMID: 8755918) McConville C.M. … Taylor A.M.R. (Am. J. Hum. Genet. 1996) 3 4 48 67
  2. Requirement of ATM for rapid p53 phosphorylation at Ser46 without Ser/Thr-Gln sequences. (PMID: 20123963) Kodama M. … Taya Y. (Mol. Cell. Biol. 2010) 3 23
  3. DNA double-strand break formation upon UV-induced replication stress activates ATM and DNA-PKcs kinases. (PMID: 19071136) Yajima H. … Chen B.P. (J. Mol. Biol. 2009) 3 23
  4. PKCalpha activation downregulates ATM and radio-sensitizes androgen-sensitive human prostate cancer cells in vitro and in vivo. (PMID: 19029835) Truman J.P. … Haimovitz-Friedman A. (Cancer Biol. Ther. 2009) 3 23
  5. Prognostic significance of ATM and TP53 deletions in Chinese patients with chronic lymphocytic leukemia. (PMID: 18035414) Xu W. … Qiu H.X. (Leuk. Res. 2008) 3 23

Products for ATM Gene

  • Addgene plasmids for ATM

Sources for ATM Gene

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