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 a... See more...

Aliases for ATM Gene

Aliases for ATM Gene

  • ATM Serine/Threonine Kinase 2 3 5
  • Ataxia Telangiectasia Mutated 2 3 4
  • Serine-Protein Kinase ATM 3 4
  • A-T Mutated 3 4
  • EC 2.7.11.1 4 51
  • TELO1 2 3
  • TEL1 2 3
  • 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
  • AT Mutated 3
  • ATDC 3
  • AT1 3
  • ATA 3
  • ATC 3
  • ATD 3
  • ATE 3
  • ATM 5

External Ids for ATM Gene

Previous HGNC Symbols for ATM Gene

  • ATA
  • ATDC
  • ATC
  • ATD

Previous GeneCards Identifiers for ATM Gene

  • GC11P110302
  • GC11P109450
  • GC11P108127
  • 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

  • Ataxia-telangiectasia (A-T) is a recessive disorder resulting from germline mutation of the A-T mutated (ATM) gene on chromosome 11q. Upon sensing double-stranded breaks (DSB), the wild-type kinase encoded by ATM initiates the DNA-damage response by phosphorylating histone H2AX and, subsequently, various other proteins, such as BRCA1 and the MRE11–RAD50–NBS1 (MRN) complex, which are recruited to the damaged site. Additionally, ATM phosphorylates p53, resulting in expression of the cyclin-dependent kinase inhibitor p21 and leading to senescence or apoptosis. Somatic variants can result in inhibition or loss of these functions and can cause resistance to therapies that rely on inducing apoptosis via DSBs. Germline variants in A-T patients result in a predisposition to cancer, most frequently hematologic or breast. PARP inhibition has been studied for its potential in treating ATM mutated breast cancer 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 ATM Pathway and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and binding. An important paralog of this gene is PRKDC.

UniProtKB/Swiss-Prot Summary 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 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, UBQLN4 and DCLRE1C (PubMed:9843217, PubMed:9733515, PubMed:10550055, PubMed:10766245, PubMed:10839545, PubMed:10910365, PubMed:10802669, PubMed:10973490, PubMed:11375976, PubMed:12086603, PubMed:15456891, PubMed:19965871, PubMed:30612738). 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. Phosphorylates ERCC6 which is essential for its chromatin remodeling activity at DNA double-strand breaks (PubMed:29203878).

Tocris Summary for ATM Gene

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

Gene Wiki entry for ATM Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATM Gene

Genomics for ATM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATM

Top Transcription factor binding sites by QIAGEN in the ATM gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • STAT5A

Genomic Locations for ATM Gene

Genomic Locations for ATM Gene
chr11:108,222,484-108,369,102
(GRCh38/hg38)
Size:
146,619 bases
Orientation:
Plus strand
chr11:108,093,211-108,239,829
(GRCh37/hg19)
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:
    • Homodimer (PubMed:28508083). 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAA86520.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAI37170.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

  • Phosphorylated by NUAK1/ARK5 (PubMed:12409306). Autophosphorylation on Ser-367, Ser-1893, Ser-1981 correlates with DNA damage-mediated activation of the kinase (PubMed:12556884, PubMed:16141325, PubMed:16858402, PubMed:21144835, PubMed:27664052). During the late stages of DNA damage response, dephosphorylated following deacetylation by SIRT7, leading to ATM deactivation (PubMed:30944854).
  • Acetylation, on DNA damage, is required for activation of the kinase activity, dimer-monomer transition, and subsequent autophosphorylation on Ser-1981 (PubMed:12556884, PubMed:16141325, PubMed:16858402, PubMed:17923702, PubMed:21144835). Acetylated in vitro by KAT5/TIP60 (PubMed:16141325). Deacetylated by SIRT7 during the late stages of DNA damage response, promoting ATM dephosphorylation and subsequent deactivation (PubMed:30944854).
  • Ubiquitination at Lys215, Lys1109, Lys1114, Lys1126, Lys1323, Lys1572, Lys1994, Lys2025, Lys2148, Lys2160, Lys2789, and Lys2848
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for ATM

Domains & Families for ATM Gene

Gene Families for ATM Gene

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

Protein Domains for ATM Gene

InterPro:
Blocks:
  • Phosphatidylinositol 3- and 4-kinase
  • PIK-related kinase, FAT
ProtoNet:

Suggested Antigen Peptide Sequences for ATM Gene

GenScript: Design optimal peptide antigens:
  • ATM protein (A8WFP7_HUMAN)
  • Ataxia telangiectasia mutated (ATM_HUMAN)
  • ATM variant (E2I6F3_HUMAN)
  • ATM protein (Q6P7P1_HUMAN)
  • ATM (Q8TDS0_HUMAN)

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

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 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, UBQLN4 and DCLRE1C (PubMed:9843217, PubMed:9733515, PubMed:10550055, PubMed:10766245, PubMed:10839545, PubMed:10910365, PubMed:10802669, PubMed:10973490, PubMed:11375976, PubMed:12086603, PubMed:15456891, PubMed:19965871, PubMed:30612738). 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. Phosphorylates ERCC6 which is essential for its chromatin remodeling activity at DNA double-strand breaks (PubMed:29203878).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:16858402, ECO:0000269|PubMed:28508083, ECO:0000269|PubMed:8988033, ECO:0000269|PubMed:9843217};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:28508083, ECO:0000269|PubMed:8988033, ECO:0000269|PubMed:9843217};.
UniProtKB/Swiss-Prot Induction:
By ionizing radiation.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by wortmannin.
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)

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 17 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:
  • Atm Atm<tm1.1Mmpl>
  • Atm Atm<tm1Awb>
  • Atm Atm<tm1Bal>
  • Atm Atm<tm1Fwa>
  • Atm Atm<tm1Led>
  • Atm Atm<tm1Mfl>
  • Atm Atm<tm1Pmc>

Animal Model Products

  • Taconic Biosciences Mouse Models for ATM

CRISPR Products

miRNA for ATM Gene

miRTarBase miRNAs that target ATM

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATM

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 4
cytoskeleton 4
extracellular 3
mitochondrion 3
endoplasmic reticulum 3
cytosol 3
peroxisome 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Vesicles (3)
See all subcellular structures

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:0005623 cell IEA --
GO:0005634 nucleus IDA 26323318
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with ATM: view

Pathways & Interactions for ATM Gene

PathCards logo

SuperPathways for ATM Gene

SuperPathway Contained pathways
1 Regulation of activated PAK-2p34 by proteasome mediated degradation
2 DNA Double-Strand Break Repair
.01
3 Resolution of D-loop Structures through Holliday Junction Intermediates
4 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.72
5 DNA Double Strand Break Response
genes like me logo Genes that share pathways with ATM: view

Pathways by source for ATM Gene

5 GeneGo (Thomson Reuters) pathways for ATM Gene
  • Cell cycle Role of 14-3-3 proteins in cell cycle regulation
  • DNA damage_ATM/ATR regulation of G1/S checkpoint
  • DNA damage_DNA-damage-induced responses
  • DNA damage_Role of Brca1 and Brca2 in DNA repair
  • Transcription_P53 signaling pathway
1 Tocris pathway for ATM Gene
17 Qiagen pathways for ATM Gene
  • ATM Pathway
  • BRCA1 Pathway
  • Cellular Apoptosis Pathway
  • Chks in Checkpoint Regulation
  • Cyclins and Cell Cycle Regulation
1 Cell Signaling Technology pathway for ATM Gene
2 GeneTex pathways for ATM Gene

Gene Ontology (GO) - Biological Process for ATM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IBA 21873635
GO:0000723 telomere maintenance IBA 21873635
GO:0000724 double-strand break repair via homologous recombination IEA --
GO:0000729 DNA double-strand break processing TAS --
GO:0001541 ovarian follicle development IEA --
genes like me logo Genes that share ontologies with ATM: view

Drugs & Compounds for ATM Gene

(65) Drugs for ATM Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, 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 57
Caffeine Approved Pharma Antagonist, Activator, Target, inhibitor 603
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2029
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3670
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 2338

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
KU 60019
925701-46-8

(4) 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
Mirin MRN-ATM pathway inhibitor 1198097-97-0

(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

mRNA/cDNA for ATM Gene

6 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATM

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

No ASD Table

Relevant External Links for ATM Gene

GeneLoc Exon Structure for
ATM

Expression for ATM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ATM Gene



Protein tissue co-expression partners for ATM Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.8)
  • Liver(4.6)
  • Blood(4.5)
  • Intestine(3.6)
  • Skin(3.4)
  • Lung(3.3)
  • Lymph node(3.3)
  • Spleen(3.3)
  • Kidney(3.2)
  • Bone marrow(3.1)
  • Heart(3.1)
  • Pancreas(3)
  • Muscle(2.9)
  • Stomach(2.8)
  • Thyroid gland(2.8)
  • Bone(2.6)
  • Eye(2.4)
  • Adrenal gland(2.4)

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
Regions:
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

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 30 31
  • 99.54 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATM 30 31
  • 90.74 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
OneToMany
-- 31
  • 80 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
-- 31
  • 71 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
-- 31
  • 59 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia ATM 30 31
  • 89.25 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atm 30 17 31
  • 84.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atm 30
  • 84.09 (n)
Oppossum
(Monodelphis domestica)
Mammalia ATM 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATM 30 31
  • 72.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATM 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atm 30
  • 65.99 (n)
Str.19990 30
African clawed frog
(Xenopus laevis)
Amphibia ATM 30
Zebrafish
(Danio rerio)
Actinopterygii atm 30 31 31
  • 59.12 (n)
OneToMany
Dr.28655 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5729 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG6535 32
  • 27 (a)
tefu 31
  • 21 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea atm-1 31
  • 18 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TEL1 31 33
  • 19 (a)
OneToOne
Rice
(Oryza sativa)
Liliopsida Os.17083 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 57 (a)
OneToOne
Species where no ortholog for ATM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATM: view image

Paralogs for ATM Gene

Paralogs for ATM Gene

(1) SIMAP similar genes for ATM Gene using alignment to 14 proteins:

  • ATM_HUMAN
  • A8WFP7_HUMAN
  • E2I6F3_HUMAN
  • E9PIN0_HUMAN
  • E9PIQ5_HUMAN
  • E9PRG7_HUMAN
  • H0YDU7_HUMAN
  • H0YEC6_HUMAN
  • M0QXY8_HUMAN
  • Q6P7P1_HUMAN
  • Q8TDS0_HUMAN
  • Q8TDS1_HUMAN
  • Q8TDS2_HUMAN
  • Q96QM9_HUMAN

Pseudogenes.org Pseudogenes for ATM Gene

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

Variants for ATM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATM Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
627570 Pathogenic: Ataxia-telangiectasia syndrome 108,235,834(+) G/C MISSENSE_VARIANT
629299 Uncertain Significance: Hereditary cancer-predisposing syndrome 108,303,007(+) AATT/A INFRAME_DELETION
631197 Uncertain Significance: Hereditary cancer-predisposing syndrome 108,244,823(+) TAGC/T INFRAME_DELETION
635340 Pathogenic: Ataxia telangiectasi 108,227,649(+) CT/C FRAMESHIFT_VARIANT
635341 Pathogenic: Ataxia telangiectasi 108,316,023(+) T/A NONSENSE,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ATM Gene

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)

Additional Variant Information for ATM Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ATM Gene

MalaCards: The human disease database

(105) MalaCards diseases for ATM Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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:19431188, 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 may contribute to T-cell acute lymphoblastic leukemia (TALL) and T-prolymphocytic leukemia (TPLL). TPLL is characterized by a high white blood cell count, with a predominance of prolymphocytes, marked splenomegaly, lymphadenopathy, skin lesions and serous effusion. The clinical course is highly aggressive, with poor response to chemotherapy and short survival time. TPLL occurs both in adults as a sporadic disease and in younger AT patients. {ECO:0000269 PubMed:9288106, ECO:0000269 PubMed:9334731, ECO:0000269 PubMed:9463314, ECO:0000269 PubMed:9488043, ECO:0000269 PubMed:9573030}.
  • Note=Defects in ATM may 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 may 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}.

Additional Disease Information for ATM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 4 23 41
  2. Elevated lung cancer risk is associated with deficiencies in cell cycle checkpoints: genotype and phenotype analyses from a case-control study. (PMID: 19626602) Zheng YL … Harris CC (International journal of cancer 2010) 3 23 41
  3. Sequence variant discovery in DNA repair genes from radiosensitive and radiotolerant prostate brachytherapy patients. (PMID: 19638463) Pugh TJ … Moore RA (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 23 41
  4. The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. (PMID: 19536649) Barroso E … Ribas G (Breast cancer research and treatment 2009) 3 23 41
  5. Polymorphisms of DNA damage response genes in radiation-related and sporadic papillary thyroid carcinoma. (PMID: 19286843) Akulevich NM … Yamashita S (Endocrine-related cancer 2009) 3 23 41

Products for ATM Gene