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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATM Gene

protein-coding   GIFtS: 76
GCID: GC11P108093

ataxia telangiectasia mutated

(Previous names: ataxia telangiectasia mutated (includes complementation...)
(Previous symbols: ATA, ATDC, ATC, ATD)
 Explore 140 diseases affiliated with
ATM via our new
 Human Malady Compendium 
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ataxia Telangiectasia Mutated1 2 3     EC 2.7.11.13 8
ATA1 2 5     AT12 5
ATC1 2     Ataxia Telangiectasia Mutated (Includes Complementation Groups A, C And D)1
ATD1 2     ATE2
ATDC1 2     AT Mutated2
TEL11 2     Serine-Protein Kinase ATM2
TELO11 2     TEL1, Telomere Maintenance 1, Homolog2
A-T Mutated2 3     

External Ids:    HGNC: 7951   Entrez Gene: 4722   Ensembl: ENSG000001493117   OMIM: 6075855   UniProtKB: Q133153   

Export aliases for ATM gene to outside databases

Previous GC identifers: GC11P110302 GC11P109450 GC11P108127 GC11P107631 GC11P107599 GC11P104019


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATM:
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)

UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
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

summary for ATM:
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 (Ataxia telangiectasia mutated)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATM gene promoter:
         CREB   AP-1   deltaCREB   ATF-2   c-Jun   STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see first 1): ATM promoter sequences (S717877  S718526  S719376)
   Search SABiosciences Chromatin IP Primers for ATM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q22-q23   Ensembl cytogenetic band:  11q22.3   HGNC cytogenetic band: 11q22-q23

ATM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATM gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P108093:  view genomic region     (about GC identifiers)

Start:
108,093,211 bp from pter      End:
108,239,829 bp from pter
Size:
146,619 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315 (See protein sequence)
Recommended Name: Serine-protein kinase ATM  
Size: 3056 amino acids; 350714 Da
Subunit: 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
Subcellular location: Nucleus. Cytoplasmic vesicle. Note=Primarily nuclear. Found also in endocytic vesicles in
association with beta-adaptin
Sequence caution: Sequence=AAA86520.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAA86520.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAI37170.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI37170.1; Type=Miscellaneous
discrepancy; Note=Probable cloning artifact; Sequence=EAW67111.1; Type=Erroneous gene model prediction;
Secondary accessions: B2RNX5 O15429 Q12758 Q16551 Q93007 Q9NP02 Q9UCX7

Explore the universe of human proteins at neXtProt for ATM: NX_Q13315

Post-translational modifications:

  • Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1893, Ser-1981 correlates with DNA damage-mediated
  • activation of the kinase1
  • 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/TIP601
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13315

  • 4/6 DME Specific Peptides for ATM (Q13315) (see all 6)
     TYKVVPL  EPDSLYG  EGVFRRC  DDLRQDA 

    ATM Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000042.3  
    ENSEMBL proteins: 
     ENSP00000435747   ENSP00000433955   ENSP00000432318   ENSP00000388058   ENSP00000432560  
     ENSP00000431839   ENSP00000434327   ENSP00000435524   ENSP00000278616  
    Reactome Protein details: Q13315
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant ATM Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for ATM 
    GenScript Custom Purified and Recombinant Proteins Services for ATM
    Novus Biologicals ATM Proteins
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ATM

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781colocalizes with chromosome, telomeric region IDA15149599
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ----
    GO:0005819spindle IEA--


    ATM for ontologies           About GeneDecksing



    ATM Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ATM
    R&D Systems Antibodies for ATM
    Cell Signaling Technology (CST) Antibodies for ATM 
    OriGene Antibodies (see all 3): ATM
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    GenScript Custom Superior Antibodies Services for ATM
    Novus Biologicals ATM Antibodies
    Abcam antibodies for ATM 
    Uscn Antibodies for ATM
    ThermoFisher Antibody for ATM

    Assay Products for ATM: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    R&D Systems ELISAs for ATM
    GenScript Custom Assay Services for ATM
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ATM


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ATM for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR000403 PI3/4_kinase_cat_dom
     IPR011009 Kinase-like_dom
     IPR021668 TAN
     IPR003151 PIK-rel_kinase_FAT
     IPR015519 ATM/Tel1

    Graphical View of Domain Structure for InterPro Entry Q13315

    ProtoNet protein and cluster: Q13315

    2 Blocks protein families:
    IPB000403 Phosphatidylinositol 3- and 4-kinase
    IPB003151 PIK-related kinase


    UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
    Domain: The FATC domain is required for interaction with KAT5
    Similarity: Belongs to the PI3/PI4-kinase family. ATM subfamily
    Similarity: Contains 1 FAT domain
    Similarity: Contains 1 FATC domain
    Similarity: Contains 1 PI3K/PI4K domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
    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
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Inhibited by wortmannin
    Induction: By ionizing radiation

         Genatlas biochemistry entry for ATM:
    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)

    Enzyme Number (IUBMB): EC 2.7.11.11 2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ATM:
    hsa-mir-374a (MIRT005573), hsa-mir-421 (MIRT003215), hsa-mir-101 (MIRT005560), hsa-mir-100 (MIRT005913), hsa-mir-181a (MIRT005576), hsa-mir-101 (MIRT005559)

    OriGene 3'-UTR Clone (see all 2): ATM
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATM
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate ATM (see all 15):
    hsa-miR-34c-3p hsa-miR-203 hsa-miR-18a hsa-miR-181c hsa-miR-516b hsa-miR-181a hsa-miR-519c-3p hsa-miR-181d
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATM (see all 7)
    OriGene shRNA RFP: ATM
    OriGene siRNA: ATM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATM

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ATM

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATM (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATM (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ATM (NM_000051)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATM 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATM

    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA9733515
    GO:0004677DNA-dependent protein kinase activity IDA15790808
    GO:0005515protein binding IPI--


    ATM for ontologies           About GeneDecksing


    4 GenomeRNAi human phenotypes for ATM:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Increased apoptosis  PARP inhibitor sensitization 

    Animal Models:
         Mouse knock-outs for ATM: Atmtm1Pmc Atmtm1Awb Atmtm1Led Atmtm1Bal Atmtm1Fwa Atmtm1Mfl
         12 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Atm):
     behavior/neurological  cellular  embryogenesis  endocrine/exocrine gland  growth/size 
     hematopoietic system  immune system  mortality/aging  nervous system  no phenotypic analysis 
     reproductive system  tumorigenesis 

    ATM for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/44 super-pathways (see all 44About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ubiquitinated Orc1 is degraded by the proteasome
    8/9 pathways (see all 9)
    Autodegradation of the E3 ubiquitin ligase COP10.92
    p53-Dependent G1/S DNA damage checkpoint0.83
    Stabilization of p530.91
    p53-Dependent G1 DNA Damage Response0.83
    p53-Independent DNA Damage Response0.91
    G1/S DNA Damage Checkpoints0.79
    Ubiquitin Mediated Degradation of Phosphorylated Cdc25A0.91
    Cell Cycle Checkpoints0.42
    2Fanconi Anemia pathway
    Fanconi Anemia pathway1.00
    Regulation of the Fanconi anemia pathway0.42
    Fanconi's Anaemia Pathway0.43
    BARD1 signaling events0.23
    3Chks in Checkpoint Regulation
    Chks in Checkpoint Regulation1.00
    p53 Signaling0.32
    G2-M Phase Transition0.59
    DNA Repair Mechanisms0.32
    4Formation of Meiotic Holliday Junction
    Formation of Meiotic Holliday Junction1.00
    Formation of Meiotic Single-stranded DNA Invasion Complex0.83
    Formation of Meiotic Heteroduplex0.83
    Resolution of Meiotic Holliday Junction0.31
    5Apoptotic Pathways in Synovial Fibroblasts
    p53 Mediated Apoptosis0.84
    Telomerase Components in Cell Signaling0.72
    Mitochondrial Apoptosis0.73
    Cellular Apoptosis Pathway0.65

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5 EMD Millipore Pathways for ATM
        DNA damage ATM/ATR regulation of G1/S checkpoint
    Cell cycle Role of 14-3-3 proteins in cell cycle regulation
    DNA damage DNA-damage-induced responses
    Transcription P53 signaling pathway
    DNA damage Role of Brca1 and Brca2 in DNA repair

    5/17 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATM (see all 17)
        Telomerase Components in Cell Signaling
    BRCA1 Pathway
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer
    UVA-Induced MAPK Signaling

    2 Cell Signaling Technology (CST) Pathways for ATM
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 Tocris Bioscience Pathway for ATM
        Apoptosis Pathway

    5 GeneGo (Thomson Reuters) Pathways for ATM
        DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage ATM/ATR regulation of G1/S checkpoint
    Transcription P53 signaling pathway
    DNA damage DNA-damage-induced responses
    Cell cycle Role of 14-3-3 proteins in cell cycle regulation

    5/19 BioSystems Pathways for ATM (see all 19
        TP53 network
    DNA damage response (only ATM dependent)
    Signaling Pathways in Glioblastoma
    miRNAs involved in DDR
    Integrated Breast Cancer Pathway

    5/27        Reactome Pathways for ATM (see all 27)
        ATM mediated response to DNA double-strand break
    Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
    DNA Repair
    Recruitment of repair and signaling proteins to double-strand breaks
    Cell Cycle

    1 PharmGKB Pathway for ATM
        Metformin Pathway, Pharmacodynamic

    3         Kegg Pathways  (Kegg details for ATM):
        Cell cycle
    p53 signaling pathway
    Apoptosis


    ATM for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/680 Interacting proteins for ATM (Q133151, 2, 3 ENSP000002786164) via UniProtKB, MINT, STRING, and/or I2D (see all 680)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATMINO433132, 3, ENSP000002995754MINT-4979579 MINT-4979598 MINT-4979635 MINT-4979556 MINT-4979615 I2D: score=1 STRING: ENSP00000299575
    H2AFXP161042, 3, ENSP000003643104MINT-2843419 I2D: score=6 STRING: ENSP00000364310
    TP53P046372, 3, ENSP000002693054MINT-49767 I2D: score=6 STRING: ENSP00000269305
    MDC1Q146761, 3, ENSP000003655884EBI-1059333,EBI-495644 I2D: score=4 STRING: ENSP00000365588
    PRKDCP785272, 3, ENSP000003134204MINT-7945693 I2D: score=3 STRING: ENSP00000313420
    About this table

    Gene Ontology (GO): 5/40 biological process terms (GO ID links to tree view) (see all 40):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint TAS--
    GO:0000077DNA damage checkpoint ----
    GO:0000723telomere maintenance IEA--
    GO:0000724double-strand break repair via homologous recombination TAS--
    GO:0001666response to hypoxia IEA--


    ATM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATM for compounds           About GeneDecksing

    EMD Millipore small molecules for ATM:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATM available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KU 55933Potent and selective ATM kinase inhibitor[587871-26-9]
    KU 60019Potent ATM kinase inhibitor[925701-46-8]
    CGK 733Selective inhibitor of ATR and ATM kinases[905973-89-9]
    MirinMRN-ATM pathway inhibitor--

    2 HMDB Compounds for ATM    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    10/46 Novoseek chemical compound relationships for ATM gene (see all 46)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 58.6 27 11114307 (1), 17507690 (1), 9442910 (1), 12513844 (1) (see all 24)
    wortmannin 56.5 24 10771089 (3), 15173573 (2), 9808536 (2), 15709017 (1) (see all 14)
    neocarzinostatin 50.7 3 15345673 (1), 9244351 (1), 9050866 (1)
    caffeine 50.2 33 10485486 (4), 16479016 (2), 11864911 (2), 10744722 (2) (see all 19)
    aphidicolin 46.5 5 11279043 (1), 11114888 (1)
    hydroxyurea 43.4 6 11689451 (1), 16293623 (1), 11114888 (1)
    topotecan 35.2 11 18802408 (3), 16426422 (3), 16760673 (2), 16184611 (1)
    camptothecin 32.1 15 20304914 (5), 15699047 (2), 16158199 (1), 10327072 (1)
    mitoxantrone 30.9 10 16760673 (4), 18802408 (3), 16184611 (1), 19411853 (1)
    ly294002 30.4 8 10771089 (3), 18589211 (1), 19038232 (1)

    Search CenterWatch for drugs/clinical trials and news about ATM 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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    About This Section

    REFSEQ mRNAs for ATM gene (3 alternative transcripts): 
    NM_000051.3  NM_138292.3  NM_138293.1  

    Unigene Cluster for ATM:

    Ataxia telangiectasia mutated
    Hs.367437  [show with all ESTs]
    Unigene Representative Sequence: NM_000051
    18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000527805(uc009yxs.1) ENST00000527891 ENST00000532931 ENST00000530958
    ENST00000452508(uc001pke.2) ENST00000526567(uc001pkc.1) ENST00000525012
    ENST00000533526 ENST00000532637 ENST00000533470 ENST00000419286 ENST00000531525(uc001pkf.3)
    ENST00000533733(uc001pkd.4) ENST00000524792 ENST00000531957 ENST00000533690(uc009yxt.1 uc001pkg.1)
    ENST00000534625 ENST00000529588

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    hsa-miR-34c-3p hsa-miR-203 hsa-miR-18a hsa-miR-181c hsa-miR-516b hsa-miR-181a hsa-miR-519c-3p hsa-miR-181d
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    Additional cDNA sequence: 

    AF035326.1 AF035327.1 AF035328.1 AK093586.1 AK299843.1 BC007023.2 BC022306.1 BC061584.1 
    BC152385.1 BC152389.1 BT006764.1 BX640631.1 CR749436.1 HM437232.1 U33841.1 U67093.1 
    X91196.1 Y08455.1 

    21 DOTS entries:

    DT.102832095  DT.100750015  DT.91916232  DT.91717023  DT.101977439  DT.99971554  DT.121643246  DT.451837 
    DT.100750014  DT.99928041  DT.120760397  DT.65284599  DT.97778369  DT.120760409  DT.120760428  DT.40122485 
    DT.75194025  DT.91664691  DT.97825561  DT.120760412  DT.99957611 

    24/200 AceView cDNA sequences (see all 200):

    AA149504 CD721939 BM671057 BC007023 BQ005085 AA632114 BX096702 AK093586 
    AA421745 AI523344 BM800438 AA814352 R26821 AL706720 AI559463 AA782580 
    BX642224 AA962359 AV705298 AI479273 BF981497 U26455 BM451149 AA149636 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ATM expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSpermatogonial Stem CellsGerm Cells, Male Gametocytes
    OvaryPrimordial FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

    See ATM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATM

    SOURCE GeneReport for Unigene cluster: Hs.367437

    UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
    Tissue specificity: Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus,
    testis, ovary, small intestine, colon and leukocytes

        SABiosciences Expression via Pathway-Focused PCR Arrays including ATM (see all 13): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              Lymphoma in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat
              Cell Cycle in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATM gene from 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ATM1 ataxia telangiectasia mutated 72.23(n)
    69.69(a)
      395401  NM_001162400.1  NP_001155872.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    87(a)
    1 ↔ 1
    5(124957040-124966704)
    African clawed frog
    (Xenopus laevis)
    Amphibia ATM2 ataxia telangiectasia mutated 75.21(n)    AF174488.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.286552 Danio rerio partial mRNA for ataxia telangiectasia more 73.34(n)    AJ605775.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG65353 cell cycle checkpoint protein kinase 27(a)     --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATM6
    serine/threonine-protein kinase
    16(a)
    1 ↔ 1
    3(17797334-17828591)
    rice
    (Oryza sativa)
    Liliopsida Os.170832 Oryza sativa (japonica cultivar-group) AtATM like protein more 75(n)    NM_183488.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATM gene
    2 SIMAP similar genes for ATM using alignment to 16 protein entries:     ATM_HUMAN (see all proteins):
    DKFZp781A0353    MTOR

    ATM for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ATM
    PGOHUM00000233233


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2630 NCBI SNPs in ATM are shown (see all 2630    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289421031,2
    Cpathogenic129242677(+) AGAATA/GTGGAA 2 Y C mis1 ese30--------
    rs289049211,2
    Cpathogenic129248463(+) GGAAGG/TAGGTC 2 G V mis10--------
    rs558612491,2
    C,Fpathogenic129349859(+) TGATTA/C/TGAGAT 3 R * syn1 stg12CSA NA 4414
    rs49879841,2
    C,Funtested104077327(+) TTTAAA/-TTTCT 1 -- int11Minor allele frequency- -:0.43NS 170
    rs30928571,2
    C,F,H,other129305100(+) TAAGAA/GTGGCC 2 M V mis126Minor allele frequency- G:0.01NA MN NS EA 7154
    rs18000541,2
    C,F,other129349816(+) AGATTC/GCAAAC 2 S C mis1 ese310Minor allele frequency- G:0.01MN NA EU 6351
    rs49878741,2
    C,F,H,--104017927(+) CAAGAC/GAAATG 1 -- us2k16Minor allele frequency- G:0.02NS EA NA 708
    rs49878751,2
    C,F,H,--104018238(+) TAAGGC/TAATTA 1 -- us2k113Minor allele frequency- T:0.03NS EA CSA WA 1180
    rs49878761,2
    C,F,H,--104018261(+) TTTTCG/TCTGAT 1 -- us2k132Minor allele frequency- T:0.07NS NA EA WA 3176
    rs49878781,2
    C,F,H,--104018626(+) CCCTCG/TGGCTT 1 -- us2k16Minor allele frequency- T:0.02NS EA WA 670

    HapMap Linkage Disequilibrium report for ATM (108093211 - 108239829 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATM: --
    Human Gene Mutation Database (HGMD): ATM

    Locus Specific Mutation Databases (LSDB): ATM

    5/6 SABiosciences Cancer Mutation PCR Assays for ATM (see all 6):
    Cosmic IdAA Change
    20404p.R2443Q
    21826p.F858L
    21624p.R3047*
    12951p.Q2442P
    21642p.R3008C
    5 SABiosciences Cancer Mutation PCR Arrays containing ATM:
    Lymphoid Neoplasms
    Lung and Colon Cancers (Expanded Panel) 384HT   
    Pathway
    Cancer Comprehensive Panel 384HT
    Tumor Suppressor Panel 384HT
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATM
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ATM for disorders           About GeneDecksing

    OMIM gene information: 607585   
    OMIM disorders: 208900  114480  
    UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
  • Defects in ATM are the cause of ataxia telangiectasia (AT) [MIM:208900]; also known as Louis-Bar syndrome,
  • which includes four complementation groups: A, C, D and E. This rare recessive disorder is characterized by
    progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth
    retardation and sexual immaturity. AT 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
  • 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

    20/140 diseases for ATM (see all 140):    About MalaCards
    ataxia telangiectasia    ataxia    lymphoma, b-cell non-hodgkin, somatic    li-fraumeni syndrome
    cll/sll    nijmegen breakage syndrome-like disorder    nijmegen breakage syndrome    marginal zone b-cell lymphoma
    t-cell prolymphocytic leukemia, sporadic    xeroderma pigmentosum, group a    b-cell non-hodgkin lymphoma    diffuse large b-cell lymphoma
    t-cell prolymphocytic leukemia    human t-cell leukemia virus type 1    spinal cord disease    prolymphocytic leukemia
    non-hodgkin lymphoma    b-cell lymphomas    asphyxiating thoracic dystrophy    xeroderma pigmentosum

    10 diseases from the University of Copenhagen DISEASES database for ATM:
    Ataxia telangiectasia     Nijmegen breakage syndrome     Breast cancer     Genetic disorder
    Telangiectasis     Cerebellar ataxia     Leukemia     Lymphoma
    Fanconi's anemia     Seckel syndrome

    10/89 Novoseek disease relationships for ATM gene (see all 89)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ataxia telangiectasia 98.2 473 9622061 (3), 16799570 (3), 7545545 (2), 8843194 (2) (see all 99)
    nijmegen breakage syndrome 87.5 20 15024084 (1), 17507690 (1), 18215521 (1), 18723444 (1) (see all 17)
    cerebellar degeneration 77.4 4 9054948 (1), 9770541 (1), 8968760 (1), 11443540 (1)
    telangiectasia 70.7 13 12882767 (4), 18502988 (2), 19799357 (1), 12513844 (1) (see all 8)
    genetic disorder 69.8 40 10549596 (2), 7545545 (1), 9535798 (1), 10567403 (1) (see all 39)
    lymphocytic leukemia chronic b-cell 65.4 16 11468183 (2), 9892178 (1), 9788599 (1), 10738255 (1) (see all 14)
    cancer 63.5 122 12513844 (4), 18565893 (4), 12195425 (3), 15390180 (3) (see all 83)
    leukemia prolymphocytic 62.7 8 9573030 (2), 10738255 (1), 12149228 (1), 18073348 (1) (see all 7)
    bilateral breast cancer 60.9 10 19153073 (3), 12673797 (1), 14562025 (1), 15756685 (1) (see all 5)
    fanconis anemia 59.3 1 11733219 (1)

    GeneTests: ATM
    Ataxia-Telangiectasia

    Genetic Association Database (GAD): ATM
    Human Genome Epidemiology (HuGE) Navigator: ATM (170 documents)
    Tumor Gene Database (TGDB): ATM

    Export disorders for ATM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATM gene, integrated from 9 sources (see all 1345):
    (articles sorted by number of sources associating them with ATM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations associated with variant phenotypes in ataxia- telangiectasia. (PubMed id 8755918)1, 2, 4 McConville C.M.... Taylor A.M.R. (1996)
    2. ATM mutations in female breast cancer patients predict for an increase in radiation-induced late effects. (PubMed id 11849780)1, 4, 9 Iannuzzi C.M....Rosenstein B.S. (2002)
    3. Inactivation of the ATM gene in T-cell prolymphocytic leukemias. (PubMed id 9573030)1, 2, 9 Stoppa-Lyonnet D.... Stern M.-H. (1998)
    4. Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene. (PubMed id 9199932)1, 2, 9 Platzer M.... Rosenthal A. (1997)
    5. The product of the ATM gene is a 370-kDa nuclear phosphoprotein. (PubMed id 8969240)1, 2, 9 Chen G. and Lee E.Y.-H.P. (1996)
    6. DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity. (PubMed id 17923702)1, 2, 9 Sun Y....Price B.D. (2007)
    7. Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. (PubMed id 10873394)1, 2, 9 Becker-Catania S.G.... Gatti R.A. (2000)
    8. Mantle cell lymphoma is characterized by inactivation of the ATM gene. (PubMed id 10706620)1, 2, 9 Schaffner C.... Lichter P. (2000)
    9. Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia. (PubMed id 10397742)1, 2, 9 Schaffner C.... Lichter P. (1999)
    10. Genotype-phenotype relationships in ataxia-telangiectasia and variants. (PubMed id 9497252)1, 2, 9 Gilad S.... Bar-Shira A. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 472 HGNC: 795 AceView: ATM Ensembl:ENSG00000149311 euGenes: HUgn472
    ECgene: ATM Kegg: 472 H-InvDB: ATM

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATM Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATM Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATM
    NIEHS-SNPshttp://egp.gs.washington.edu/data/atm/
    Wikipedia http://en.wikipedia.org/wiki/Ataxia_telangiectasia_mutated

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATM gene:
    Search GeneIP for patents involving ATM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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