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ATM Gene

protein-coding   GIFtS: 75

GC11P107599
ataxia telangiectasia mutated
(Previous names: ataxia telangiectasia mutated (includes complementation groups A, C and D) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: ATA, ATDC, ATC, ATD)
Services    

Aliases &
Descriptions
for ATM

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
AT1 2, 5
ATA 2, 5
ATC 2
ATD 2
ATDC 2
ATE 2
DKFZp781A0353 2
EC 2.7.11.1 3
MGC74674 2
TEL1 1, 2
TELO1 1, 2
Descriptions
A-T, mutated 3
AT mutated 2
TEL1, telomere maintenance 1, homolog 2
ataxia telangiectasia mutated 2, 3
ataxia telangiectasia mutated (includes complementation
groups A, C and D) 1, 2
human phosphatidylinositol 3-kinase homolog 2
serine-protein kinase ATM 2
External Ids
HGNC: 7951
Entrez Gene: 4722
UniProtKB: Q133153
Ensembl: ENSG000001493117
Search outside databases for aliases for ATM gene

Previous GC identifers: GC11P110302 GC11P109450 GC11P108127 GC11P107631

Summaries
for ATM

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

 EntrezGene 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. Two
transcript variants encoding different isoforms have been found for this gene. [provided by
RefSeq]

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 involved in signal transduction and cell cycle
control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK.
Phosphorylates 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

Gene Wiki entry for ATM (Ataxia_telangiectasia_mutated)

Genomic Location
for ATM

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ATM gene  

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)

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P107599:     (about GC identifiers)

Start:
 107,598,769 bp from pter
End:
 107,745,036 bp from pter
Size:
 146,268 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000011.8  NT_033899.7  

Proteins
for ATM

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315 (See protein sequence)
Recommended Name: Serine-protein kinase ATM  
Size: 3056 amino acids; 350644 Da
Subunit: Dimers or tetramers in inactive state. On DNA damage, autophosphorylation dissociates ATM
into monomers rendering them catalytically active. Binds DNA ends, 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. DNA damage promotes association with RAD17. Interacts with EEF1E1; the interaction,
induced on DNA damage, upregulates TP53. Interacts with DCLRE1C, MYST1, HTATIP, OBFC2B, ATMIN and
CEP164. Interacts with the beta-adaptin complex subunits, AP2B1 AND AP3B2; the interaction occurs
in cytoplasmic vesicles (By similarity)
Subcellular location: Nucleus. Cytoplasmic vesicle. Note=Primarily nuclear. Found also in endocytic
vesicles in association with beta-adaptin
Secondary accessions: O15429 Q12758 Q16551 Q93007 Q9NP02 Q9UCX7

Post-translational modifications:

  • Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1983, 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 HTATIP/TIP601
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (2 alternative transcripts): 
    NP_000042.3  NP_612149.1  


    ENSEMBL proteins: 
    ENSP00000278616 ENSP00000299392 ENSP00000374162 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (ATM)
    Human Recombinant Proteins from Abnova (ATM)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005654 nucleoplasm EXP10550055 10959836 11331603 12556884 12607003
    GO:0031410 cytoplasmic vesicle IEA--
    About this table

    Antibodies for ATM: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of ATM
    Sigma-Aldrich Antibody Arrays and Antibodies for ATM
    R&D Systems Antibodies for ATM
    Cell Signaling Technology (CST) Antibodies for ATM 
    Antibodies from Abcam (ATM), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (ATM)
    Novus Biologicals Antibodies for ATM

    Assays for ATM: 
    Browse Invitrogen for biochemical assays
    Millipore Kits and Assays for the Analysis of ATM
    R&D Systems ELISAs for ATM         (see all)
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for ATM

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro domains/families (see all 6 ):
     IPR000403 PI3/4_kinase_cat
     IPR003151 PIK-rel_kinase_FAT
     IPR015519 Ataxia_Telang_Mut
     IPR014009 PIK_FAT
     IPR003152 FATC


       GeneDecks  ATM for the domains selected above  
    About GeneDecksing

    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 HTATIP
    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

    Gene Function
    for ATM

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (ATM)
    Millipore RNAi Products for the Analysis of ATM Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (ATM)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_138292

                  Applied Biosystems Silencer® siRNAs for ATM

                  Sigma-Aldrich siRNA and siRNA Panels for ATM  
                         Sigma-Aldrich shRNA Panels and shRNA for ATM  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for ATM
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000051
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000051
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000051 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000051

    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 involved in signal transduction and cell cycle
    control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK.
    Phosphorylates 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
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Inhibited by wortmannin
    Induction: By ionizing radiation
    Enzyme Number (IUBMB): EC 2.7.11.1 

    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)

    11 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Atm):

    behavior/neurologicalcellularendocrine/exocrine glandgrowth/sizehematopoietic system
    immune systemlethality-prenatal/perinatallife span-post-weaning/agingnervous systemreproductive system
    tumorigenesis

    5 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677 DNA binding IEA--
    GO:0004674 protein serine/threonine kinase activity IDA11375976
    GO:0016303 1-phosphatidylinositol-3-kinase activity IMP11375976
    GO:0016740 transferase activity IEA--
    GO:0047485 protein N-terminus binding IDA11375976
    About this table

    Pathways & Interactions
    for ATM

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5/9 Invitrogen iPath™ Online BioAtlas - Pathways for ATM (see all 9 ) (Maps provided by GeneGo):
     Cdc25 regulation of cell cycle
     P53 signaling pathway
     Cell Cycle Regulation by Brca1
     Role of Brca1 and Brca2 in DNA repair
     ATM-H2AX-NFBD1 DNA damage response

       GeneDecks  ATM for the pathways selected above  
    About GeneDecksing

    5 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

       GeneDecks  ATM for the pathways selected above  
    About GeneDecksing

    5/10 Sigma-Aldrich "Your Favorite Gene" Pathways for  ATM  (Your Favorite Gene powered by Ingenuity) (see all 10 ) 
     ATM Signaling
     Cell Cycle: G1/S Checkpoint Regulation
     Molecular Mechanisms of Cancer
     Hypoxia Signaling in the Cardiovascular System
     Role of BRCA1 in DNA Damage Response

       GeneDecks  ATM for the pathways selected above  
    About GeneDecksing

    2 Cell Signaling Technology (CST) Pathways for ATM: 
     Translational Control: Regulation of eIF2
     NF-kB Signaling

       GeneDecks  ATM for the pathways selected above  
    About GeneDecksing

    3 Kegg Pathways  (Kegg details for ATM):
     hsa04110 Cell cycle
     hsa04115 p53 signaling pathway
     hsa04210 Apoptosis

       GeneDecks  ATM for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  ATM 


    5/13 Interacting proteins for ATM (Q133151, 2) via UniProtKB, MINT, and/or STRING (see all 13 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AATFQ9NY611EBI-495465, EBI-372428
    ABL1P005191EBI-495465, EBI-375543
    MDC1Q146761EBI-495465, EBI-495644
    OBFC2BQ9BQ151EBI-495465, EBI-2120336
    PPP1CAP621361EBI-495465, EBI-357253
    About this table

    5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281 DNA repair TAS9733515
    GO:0006974 response to DNA damage stimulus IEA--
    GO:0007094 mitotic cell cycle spindle assembly checkpoint IMP11943150
    GO:0007131 reciprocal meiotic recombination TAS7792600
    GO:0007165 signal transduction TAS7792600
    About this table

    Drugs & Compounds
    for ATM

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

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


    10/22 Novoseek chemical compound relationships for ATM gene (see all 22 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 59.28 25 11114307 (1), 17507690 (1), 9442910 (1), 12513844 (1) (see all 23)
    wortmannin 56.14 19 10771089 (3), 15173573 (2), 9808536 (2), 15709017 (1) (see all 12)
    threonine 29.48 6 12926986 (1), 11313465 (1), 18724058 (1), 15970689 (1) (see all 5)
    acetoacetyl coa 26.26 2 8786135 (1), 9205109 (1)
    bpde 15.42 4 11864911 (3), 17362036 (1)
    phosphoinositide 14.03 5 18196973 (1), 12234250 (1), 14729973 (1), 9733514 (1) (see all 5)
    tempol 10.98 1 15213104 (1)
    leucine 8.83 10 14508513 (2), 9121450 (2), 9843217 (1), 10931683 (1) (see all 7)
    zinc 2.82 3 7836856 (2), 17560543 (1)
    iron 1.49 1 15456844 (1)
    About this table


    Transcripts
    for ATM

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (ATM)
    Millipore RNAi Products for the Analysis of ATM Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (ATM)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_138292

                  Sigma-Aldrich siRNA and siRNA Panels for ATM  
                         Sigma-Aldrich shRNA Panels and shRNA for ATM  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000051  NM_138292  

    REFSEQ mRNAs for ATM gene (2 alternative transcripts): 

    NM_000051.3   NM_138292.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000051  NM_138292  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000051
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000051
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_000051 

    Additional cDNA sequence: 

    AB209133.1 AF035326.1 AF035327.1 AF035328.1 AK093586.1 AK299843.1 BC007023.2 BC022306.1 
    BC061584.1 BC137169.1 BC152385.1 BC152389.1 BT006764.1 BX640631.1 CR749436.1 U26455.1 
    U33841.1 U67093.1 X91196.1 Y08455.1 

    20 DOTS entries:

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

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

    NM_138292 BX504088 BC061584 AA236739 AI559463 BX642224 R26821 BQ722775 
    AA962359 AA632114 BM800438 U26455 BQ005085 AV705298 CD721939 AA782580 
    NM_000051 U33841 BX644571 AA149504 BM671057 AK093586 BM701900 BG942504 

    highest scoring ESTs for ATM:

    U26455 AA016254 AA019493 AA149504 AA149636 AA174148 AA421745 AA632114 AA689605 AA758033 

    Unigene Cluster for ATM:

    Ataxia telangiectasia mutated
    Hs.367437  [show with all ESTs]
    Unigene Representative Sequence: NM_000051


    GeneLoc Exon Structure

    3 Ensembl transcripts including schematic representations:
    ENST00000278616  ENST00000299392  ENST00000389511  

    Expression
    for ATM

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ATM expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ATM

    1 / 2 / 3

    14 probe-sets matching ATM gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		1863_s_at2, 3 U95-A 1 1.00 1.00 0.89 1.39 U67092 0.20 1.00 0.72 1

    		1862_at2, 3 U95-A 1 1.00 1.00 0.41 0.54 U67092 0.20 1.00 0.72 1

    		2000_at2, 3 U95-A 9 1.00 0.94 0.69 1.27 U26455 1.00 0.80 0.91 1

    		91853_at2, 3 U95-D 2 1.00 0.84 0.71 1.15 AI275446 0.60 0.83 0.73 1

    		2001_g_at2, 3 U95-A 2 1.00 0.59 0.58 0.77 U26455 1.00 0.80 0.91 1

    		212672_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    		210858_x_at2, 3 U133-A 6 1.00 0.79 -- -- U26455 1.00 0.80 0.91 1

    		208442_s_at2, 3 U133-A 2 1.00 0.50 -- -- NM_000051 0.60 0.83 0.73 1

    		1554631_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		212672_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		1570352_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		210858_x_at2 U133Plus2 6 1.00 0.79 -- -- -- -- -- -- --

    		208442_s_at2 U133Plus2 2 1.00 0.50 -- -- -- -- -- -- --

    		1553387_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.367437

    Expression variation in blood from EXPOLDB for ATM

    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

    Orthologs
    for ATM

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for ATM gene from 5/14 species (see all 14 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 ATM1   -- ataxia telangiectasia mutated 89.05(n)
    89.4(a)    		 479450  XM_857653.1  XP_862746.1 
    chimpanzee
    (Pan troglodytes)    		 ATM1   -- ataxia telangiectasia mutated 99.6(n)
    99.44(a)    		 451530  XM_001139322.1  XP_001139322.1 
    cow
    (Bos taurus)    		 ATM1   -- ataxia telangiectasia mutated 90.74(n)
    89.88(a)    		 526824  XM_605200.3  XP_605200.3 
    rat
    (Rattus norvegicus)    		 Atm1   -- ataxia telangiectasia mutated homolog (human) 84.11(n)
    84.25(a)    		 300711  XM_236275.4  XP_236275.4 
    mouse
    (Mus musculus)    		 Atm1, 5 9 (30.00 cM)5
    		 ataxia telangiectasia mutated homolog (human)1, 5 85(n)1
    84.31(a)1    		 119201  NM_007499.11  NP_031525.11 
     AC0798695  AI2566215  (see all 16)
    About this table        Species with no ortholog for ATM

    ENSEMBL Gene Tree for ATM

    Paralogs
    for ATM

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ATM gene
    ATR2  

    SNPs/Variants
    for ATM

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/1108 NCBI SNPs in ATM are shown (see all 1108 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 379)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs6092611,2
    		A,C,F,H107663344(-) AGACTA/GAGAGG 2 -- ut51 int1 trp39Minor allele frequency- G:0.44NS EU EA WA NA 946
    rs45851,2
    		A,C,F,H107744838(+) GGACAG/TCGTAA 2 -- ut31 ese317Minor allele frequency- T:0.50EA NA MN CSAM EU WA 1382
    rs5929551,2
    		A,C,F,H107661683(+) GACTCC/ATTTCC 2 -- ng51 int1 trp34Minor allele frequency- A:0.39EU EA WA 416
    rs32186971,2
    		C,F,H107663496(+) CACAGA/Gtataa 2 -- ut51 int16Minor allele frequency- G:0.00NA NS EU EA WA 744
    rs49879991,2
    		C,F,H107663140(+) CTGTAA/CTTGAG 2 -- ng51 int111Minor allele frequency- C:0.00NS EU EA WA 1062
    rs18000581,2
    		C,F,H107665560(+) TTCTTC/TTTGCC 2 L/F mis116Minor allele frequency- T:0.02NA MN CSAM EA EU WA NS 1746
    --
    rs30928371,2
    		C,F,O107742129(+) TCTCTT/GTATCT 2 -- ut314Minor allele frequency- G:0.01NA 336
    rs22350001,2
    		C,F,H107626943(+) TCAGGG/ATAGTT 1 D/G mis118Minor allele frequency- A:0.02EU EA WA NA NS 1948
    rs32186801,2
    		C,F,H107711020(+) CCGATG/AGCAAG 2 S/G mis16Minor allele frequency- A:0.00NA NS EU EA WA 766
    --
    rs32186701,2
    		C,F,H107691953(+) ACTACG/AAACAT 2 Q/R mis16Minor allele frequency- A:0.00NA NS EU EA WA 720
    About this table

    HapMap Linkage Disequilibrium images for ATM (up to first 250kb)

    Disorders & Mutations
    for ATM

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 607585

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

    • 10/89 Novoseek disease relationships for ATM gene (see all 89 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    ataxia telangiectasia 98.24 447 9622061 (3), 16799570 (3), 7545545 (2), 8843194 (2) (see all 99)
    nijmegen breakage syndrome 87.90 19 15024084 (1), 17507690 (1), 18215521 (1), 18723444 (1) (see all 16)
    cerebellar degeneration 77.90 4 9054948 (1), 9770541 (1), 8968760 (1), 11443540 (1)
    genetic disorder 70.81 38 10549596 (2), 7545545 (1), 9535798 (1), 10567403 (1) (see all 37)
    telangiectasia 70.26 12 12882767 (4), 18502988 (2), 12513844 (1), 15279807 (1) (see all 7)
    lymphocytic leukemia chronic b-cell 66.82 16 11468183 (2), 9892178 (1), 9788599 (1), 10738255 (1) (see all 14)
    leukemia prolymphocytic 64.01 8 9573030 (2), 10738255 (1), 12149228 (1), 18073348 (1) (see all 7)
    cancer 62.78 117 12513844 (4), 18565893 (4), 12195425 (3), 15390180 (3) (see all 78)
    bilateral breast cancer 62.54 10 19153073 (3), 12673797 (1), 14562025 (1), 15756685 (1) (see all 5)
    breast cancer 58.60 213 11830610 (6), 9054948 (5), 18264724 (5), 15557798 (5) (see all 77)
    About this table

    1 PharmGKB disease relationship for ATM gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872
    About this table

    GeneTests: ATM
    Ataxia-Telangiectasia

    Human Gene Mutation Database: ATM
    Genetic Association Database: ATM
    Human Genome Epidemiology Navigator: ATM (109 documents)
    Tumor Gene Database: ATM
    Breast Cancer Gene Database: ATM

    Medical News
    for ATM

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    Publications
    for ATM

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

    		10/1008 PubMed articles for ATM gene (see all 1008 ):

    Search for ATM

    (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)

    Genome Databases showing ATM

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

    Other Databases showing ATM

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing ATM

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for ATM Genetics and Cytogenetics in Oncology and Haematology
    Ataxia talangiectasia mutation dbhttp://benaroyaresearch.org/investigators/concannon_patrick/atm.htm
    GeneReviewshttp://www.genetests.org/query?gene=ATM
    NIEHS-SNPshttp://egp.gs.washington.edu/data/atm/
    Wikipedia http://en.wikipedia.org/wiki/Ataxia_telangiectasia_mutated

    Licensable Technologies
    for ATM

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for ATM

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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     Antibodies for ATM

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