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Aliases for ATM Gene

Aliases for ATM Gene

  • ATM Serine/Threonine Kinase 2 3
  • Ataxia Telangiectasia Mutated 2 3 4
  • A-T Mutated 3 4
  • EC 2.7.11.1 4 63
  • TEL1 2 3
  • AT1 3 6
  • ATA 3 6
  • Ataxia Telangiectasia Mutated (Includes Complementation Groups A, C And D) 2
  • TEL1, Telomere Maintenance 1, Homolog 3
  • Serine-Protein Kinase ATM 3
  • Homolog (S. Cerevisiae) 2
  • Telomere Maintenance 1 2
  • AT Mutated 3
  • TELO1 3
  • ATDC 3
  • ATE 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 chronic lymphocytic leukemia and ataxia-telangiectasia. Among its related pathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include protein serine/threonine kinase activity and protein complex 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. These serine-threonine protein kinases are part of the phosphatidylinositol 3� kinase-like kinase (PIKK) family. Upon recruitment by the DNA damage binding proteins/complexes (ATRIP for ATR; MRN for ATM), ATM/ATR initiate the DNA damage checkpoint by phosphorylating a number of key proteins. Once activated, the checkpoint leads to cell cycle arrest and either DNA repair or apoptosis. ATM is activated by double stranded breaks and phosphorylates Chk2, whilst ATR is activated by single strand breaks and phosphorylates Chk1.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATM Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.
    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 Lys215, Lys1109, Lys1114, Lys1126, Lys1323, Lys1572, Lys1994, Lys2025, Lys2148, Lys2160, Lys2789, and Lys2848
  • Modification sites at PhosphoSitePlus

Other Protein References for ATM Gene

Antibody Products

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

Domains 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 :
  • Q13315
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:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IDA 11375976
GO:0004677 DNA-dependent protein kinase activity IDA 15790808
GO:0005488 binding --
genes like me logo Genes that share ontologies with ATM: view
genes like me logo Genes that share phenotypes with ATM: view

Animal Models for ATM Gene

MGI Knock Outs for ATM:

Animal Model Products

CRISPR Products

No data available for Transcription Factor Targeting 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.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for ATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 colocalizes_with chromosome, telomeric region IDA 15149599
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm --
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with ATM: view

Pathways for ATM Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for ATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint --
GO:0000723 telomere maintenance IEA --
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0001666 response to hypoxia IEA --
GO:0001756 somitogenesis IEA --
genes like me logo Genes that share ontologies with ATM: view

Compounds for ATM Gene

Compound Products

(3) Tocris Compounds for ATM Gene

Compound Action Cas Number
AZ 20 Potent and selective ATR kinase inhibitor; antitumor [1233339-22-4]
KU 55933 Potent and selective ATM kinase inhibitor [587871-26-9]
KU 60019 Potent ATM kinase inhibitor [925701-46-8]

(4) ApexBio Compounds for ATM Gene

Compound Action Cas Number
AZ20 potent and selective inhibitor of ATR [1233339-22-4]
KU 55933 Potent and selective ATM inhibitor [587871-26-9]
KU-60019 Potent and selective ATM kinase inhibitor [925701-49-1]
VE-821 Cell-permeable and ATP-competitive ATM kinase inhibitor [1232410-49-9]

(2) HMDB Compounds for ATM Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(46) Novoseek inferred chemical compound relationships for ATM Gene

Compound -log(P) Hits PubMed IDs
phosphatidylinositol 58.6 24
wortmannin 56.5 18
neocarzinostatin 50.7 3
caffeine 50.2 25
aphidicolin 46.5 2
genes like me logo Genes that share compounds with ATM: view

Transcripts for ATM Gene

Unigene Clusters for ATM Gene

Ataxia telangiectasia mutated:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATM

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ATM

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with ATM: view

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 35
  • 90.74 (n)
  • 89.88 (a)
ATM 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATM 35
  • 89.25 (n)
  • 89.56 (a)
ATM 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atm 35
  • 84.99 (n)
  • 84.34 (a)
Atm 16
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 35
  • 72.23 (n)
  • 69.69 (a)
ATM 36
  • 69 (a)
OneToOne
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 35
  • 59.12 (n)
  • 57.56 (a)
atm 36
  • 55 (a)
OneToMany
atm 36
  • 48 (a)
OneToMany
Dr.28655 35
fruit fly
(Drosophila melanogaster)
Insecta tefu 36
  • 21 (a)
OneToOne
CG6535 37
  • 27 (a)
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 MAF
rs170616 -- 108,238,139(+) ccagg(A/C)tggtc intron-variant
rs172927 -- 108,253,572(-) AGTTA(C/T)AATCT intron-variant
rs186591 -- 108,329,415(+) TTTGT(G/T)TTTTT intron-variant
rs189038 -- 108,238,051(+) cctcc(C/T)gagta intron-variant
rs228588 -- 108,242,604(-) gagat(C/G)acagg intron-variant

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

Relevant External Links for ATM Gene

HapMap Linkage Disequilibrium report
ATM
Human Gene Mutation Database (HGMD)
ATM
Locus Specific Mutation Databases (LSDB)
ATM

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

Disorders for ATM Gene

(2) OMIM Diseases for ATM Gene (607585)

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.
  • Note=Defects in ATM contribute to B-cell non-Hodgkin lymphomas (BNHL), including mantle cell lymphoma (MCL).
  • 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.

(89) Novoseek inferred disease relationships for ATM Gene

Disease -log(P) Hits PubMed IDs
ataxia telangiectasia 98.2 150
nijmegen breakage syndrome 87.5 17
cerebellar degeneration 77.4 4
telangiectasia 70.7 12
genetic disorder 69.8 40

Relevant External Links for ATM

GeneTests
ATM
GeneReviews
ATM
Genetic Association Database (GAD)
ATM
Human Genome Epidemiology (HuGE) Navigator
ATM
Tumor Gene Database (TGDB):
ATM
genes like me logo Genes that share disorders with ATM: view

Publications for ATM Gene

  1. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. (PMID: 7792600) Savitsky K. … Shiloh Y. (Science 1995) 3 4 23
  2. Genomic organization of the ATM locus involved in ataxia- telangiectasia. (PMID: 8521392) Rasio D. … Croce C.M. (Cancer Res. 1995) 3 4 23
  3. ATM mutations in cancer families. (PMID: 8797579) Vorechovsky I. … Hammarstroem L. (Cancer Res. 1996) 3 4 23
  4. Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia. (PMID: 9043869) Vorechovsky I. … Hammarstroem L. (Eur. J. Hum. Genet. 1996) 3 4 23
  5. The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage. (PMID: 9050866) Brown K.D. … Tagle D.A. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 23

Products for ATM Gene

  • Addgene plasmids for ATM

Sources for ATM Gene

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