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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 58
  • Ataxia Telangiectasia Mutated (Includes Complementation Groups A, C And D) 2
  • TEL1, Telomere Maintenance 1, Homolog (S. Cerevisiae) 2
  • TEL1, Telomere Maintenance 1, Homolog 3
  • Serine-Protein Kinase ATM 3
  • AT Mutated 3
  • TELO1 3
  • TEL1 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]

CIViC summary for ATM Gene

  • ATM is a DNA-damage response gene that is commonly mutated in cancer. Germline mutations in this gene are thought to contribute to breast cancer susceptibility, and PARP inhibition is currently being studied for it's potential in treating these patients.

GeneCards Summary for ATM Gene

ATM (ATM Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with ATM include Ataxia-Telangiectasia and Mantle Cell Lymphoma. Among its related pathways are DNA Damage and DNA damage_Role of Brca1 and Brca2 in DNA repair. 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

Additional gene information 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

Enhancers for ATM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H108233 1.4 Ensembl ENCODE dbSUPER 10.8 +16.1 16122 11 FOXA2 BATF RARA SMARCC2 ATF7 ETV6 RUNX3 CREM IKZF2 CBFB ACAT1 ATM ENSG00000255467 DDX10 C11orf65 KDELC2 GC11M108232 ENSG00000206967 PIR35860
GH11H108136 0.7 ENCODE 10.9 -85.9 -85914 0 CTCF MAFG BACH1 RAD21 ZNF316 MAFF SMC3 NFE2 ATF7 MAFK NPAT ATM DDX10 ENSG00000255467
GH11H108246 0.6 dbSUPER 11.7 +24.6 24610 1 PAF1 CEBPB MAFG CEBPG ZNF316 MAFF MAFK EMSY ACAT1 NPAT ATM ENSG00000255467 DDX10 C11orf65 GC11M108232 ENSG00000206967 PIR35860
GH11H108245 0.4 dbSUPER 11.7 +22.9 22937 0 CEBPG ZNF384 ACAT1 NPAT ATM ENSG00000255467 DDX10 GC11M108232 ENSG00000206967 PIR35860
GH11H108251 0.4 dbSUPER 11.7 +30.1 30140 2 FOSL1 PAF1 ACAT1 NPAT ATM ENSG00000255467 DDX10 GC11M108232 ENSG00000206967 PIR35860
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATM on UCSC Golden Path with GeneCards custom track

Promoters for ATM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000044515 716 4401 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1

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};

    Three dimensional structures from OCA and Proteopedia for ATM Gene

neXtProt entry for ATM Gene

Selected DME Specific Peptides for ATM Gene

Q13315:
  • VPFRLTRDIVDG
  • TYKVVPL
  • EGVFRRC
  • HIDLGVAF
  • DDLRQDA
  • EPDSLYG

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 posLast=215215, Lys1109, posLast=11141114, posLast=11261126, posLast=13231323, posLast=15721572, posLast=19941994, Lys2025, Lys2148, Lys2160, Lys2789, and Lys2848
  • Modification sites at PhosphoSitePlus

Domains & Families for ATM Gene

Gene Families for ATM Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

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.
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

Phenotypes From GWAS Catalog for ATM Gene

Gene Ontology (GO) - Molecular Function for ATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0004677 DNA-dependent protein kinase activity IDA 15790808
genes like me logo Genes that share ontologies with ATM: view

Phenotypes for ATM Gene

MGI mutant phenotypes for ATM:
inferred from 10 alleles
GenomeRNAi human phenotypes for ATM:
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

  • Taconic Biosciences Mouse Models for ATM

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATM
  • Applied Biological Materials Clones for ATM
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATM gene
Compartment Confidence
nucleus 5
plasma membrane 3
cytoskeleton 3
mitochondrion 2
cytosol 2
extracellular 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0000784 colocalizes_with nuclear chromosome, telomeric region IC 26586433
GO:0005634 nucleus IDA 26323318
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA 27829214
genes like me logo Genes that share ontologies with ATM: view

Pathways & Interactions for ATM Gene

SuperPathway Contained pathways
1 CDK-mediated phosphorylation and removal of Cdc6
2 DNA Double-Strand Break Repair
3 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
4 Apoptotic Pathways in Synovial Fibroblasts
5 DNA Double Strand Break Response
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:0001541 ovarian follicle development IEA --
genes like me logo Genes that share ontologies with ATM: view

Drugs & Compounds for ATM Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rucaparib Approved, Investigational Pharma inhibitor, Biomarker, other PARP inhibitor, PARP Inhibitors, Other 16
Caffeine Approved Nutra Antagonist, Target A1 and A2B antagonist. CNS stimulant 410
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1993
Methylprednisolone Approved, Vet_approved Pharma Apoptosis inducer,GR agonist, Glucocorticoid receptor agonist 1228
Prednisolone Approved, Vet_approved Pharma Agonist 1228

(18) Additional Compounds for ATM Gene - From: Novoseek, HMDB, 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

(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

(7) ApexBio Compounds for ATM Gene

Compound Action Cas Number
CGK733 ATM/ATR inhibitor,potent and selective 905973-89-9
CP-466722 ATM inhibitor,potent and reversible 1080622-86-1
Floxuridine Antineoplastic antimetabolite 50-91-9
KU 55933 ATM inhibitor,potent and selective 587871-26-9
KU-60019 ATM kinase inhibitor,potent and selective 925701-49-1
Mirin 1198097-97-0
Torin 2 MTOR inhibitor,highly potent and selective 1223001-51-1
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ATM
  • Applied Biological Materials Clones for ATM
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ATM Gene



Protein tissue co-expression partners for ATM Gene

NURSA nuclear receptor signaling pathways regulating expression of ATM Gene:

ATM

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.

Evidence on tissue expression from TISSUES for ATM Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Blood(4.4)
  • Intestine(3)
  • Lung(2.8)
  • Skin(2.6)
  • Lymph node(2.5)
  • Bone marrow(2.4)
  • Spleen(2.4)
  • Heart(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • sinus
  • skull
Thorax:
  • bronchus
  • heart
  • lung
  • thymus
Abdomen:
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • white blood cell
genes like me logo Genes that share expression patterns with ATM: view

Primer 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 33 34
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia ATM 33 34
  • 90.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
-- 34
  • 59 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ATM 33 34
  • 89.25 (n)
mouse
(Mus musculus)
Mammalia Atm 33 16 34
  • 84.99 (n)
rat
(Rattus norvegicus)
Mammalia Atm 33
  • 84.09 (n)
oppossum
(Monodelphis domestica)
Mammalia ATM 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATM 33 34
  • 72.23 (n)
lizard
(Anolis carolinensis)
Reptilia ATM 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atm 33
  • 65.99 (n)
Str.19990 33
African clawed frog
(Xenopus laevis)
Amphibia ATM 33
zebrafish
(Danio rerio)
Actinopterygii atm 33 34 34
  • 59.12 (n)
Dr.28655 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5729 33
fruit fly
(Drosophila melanogaster)
Insecta CG6535 35
  • 27 (a)
tefu 34
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea atm-1 34
  • 18 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TEL1 34 36
  • 19 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os.17083 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
OneToOne
Species where no ortholog for ATM was found in the sources mined by GeneCards:
  • 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
rs11212587 other, Ataxia telangiectasia (AT) [MIM:208900] 108,315,883(+) GTGGT(A/G)GAGGG intron-variant, reference, missense
rs1137889 Ataxia telangiectasia (AT) [MIM:208900] 108,365,344(+) GTTTC(A/G)ACAAA intron-variant, reference, missense
rs121434216 Pathogenic, Ataxia telangiectasia (AT) [MIM:208900] 108,345,804(+) AAATT(G/T)TCAAC intron-variant, reference, missense
rs121434217 Pathogenic, T-prolymphocytic leukemia 108,299,752(+) CTATA(C/G)ATTTC reference, missense
rs121434218 Pathogenic, Ataxia telangiectasia (AT) [MIM:208900] 108,333,925(+) TAAAC(C/T)TAAGA intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv2181n54 CNV loss 21841781
esv3627674 CNV gain 21293372
esv3892100 CNV loss 25118596
nsv473067 CNV novel sequence insertion 20440878
nsv556430 CNV loss 21841781
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

Human Gene Mutation Database (HGMD)
ATM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATM

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

Disorders for ATM Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ataxia-telangiectasia
  • ataxia telangiectasia
mantle cell lymphoma
  • lymphoma, mantle cell
ataxia
t-cell prolymphocytic leukemia
  • leukemia, t-cell, chronic
primary immunodeficiency disease
  • hypoimmunity
- 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:27664052, ECO:0000269 PubMed:7792600, ECO:0000269 PubMed:8589678, ECO:0000269 PubMed:8665503, 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 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}.
  • 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 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}.

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. ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations. (PMID: 18384426) Brunet J … Borràs J (Clinical genetics 2008) 3 22 45 60
  2. Contribution of mutations in ATM to breast cancer development in the Czech population. (PMID: 18497957) Soukupova J … Pohlreich P (Oncology reports 2008) 3 22 45 60
  3. Possession of ATM sequence variants as predictor for late normal tissue responses in breast cancer patients treated with radiotherapy. (PMID: 17517479) Ho AY … Rosenstein BS (International journal of radiation oncology, biology, physics 2007) 3 22 45 60
  4. DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity. (PMID: 17923702) Sun Y … Price BD (Molecular and cellular biology 2007) 3 4 22 60
  5. Risk of radiation-induced subcutaneous fibrosis in relation to single nucleotide polymorphisms in TGFB1, SOD2, XRCC1, XRCC3, APEX and ATM--a study based on DNA from formalin fixed paraffin embedded tissue samples. (PMID: 16966185) Andreassen CN … Overgaard J (International journal of radiation biology 2006) 3 22 45 60

Products for ATM Gene

  • Addgene plasmids for ATM

Sources for ATM Gene

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