Expression of ATM in cancer - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene nameⁱ Gene name according to HGNC.	ATM
Gene descriptionⁱ Gene description according to HGNC.	ATM serine/threonine kinase
Protein classⁱ Protein class the gene product belongs to according to selected gene lists. List of protein classes.	Cancer-related genes Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins Predicted membrane proteins
Predicted localizationⁱ Protein localization predicted from several bioinformatic algorithms. Read more	Intracellular,Membrane
Number of transcriptsⁱ Number of protein-coding transcribed from this gene as defined by Ensembl.	9
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HUMAN PROTEIN ATLAS INFORMATION

RNA categoryⁱ

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Expressed in all
HPA (normal tissue):	Expressed in all

Protein evidenceⁱ

Evidence at protein level

Protein expression
normal tissueⁱ

General nuclear expression.

ANTIBODY IHC RELIABILITY
Data reliability descriptionⁱ Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.	Antibody staining mainly consistent with RNA expression data. Goblet cell staining observed and disregarded.
Reliability scoreⁱ Reliability score (score description), divided into Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data. Read more	Supported based on 1 antibody. CAB000102
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PROGNOSTIC SUMMARYⁱ Kaplan-Meier plots for all cancers where high expression of this gene has significant (p<0.001) association with patient survival are shown in this summary. Whether the prognosis is favourable or unfavourable is indicated in brackets. Each Kaplan-Meier plot is clickable and redirects to a detailed page that includes individual expression and survival data for patients with the selected cancer.
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEWⁱ

TCGA datasetⁱ
RNA-seq data in 17 cancer types are reported as median FPKM (number Fragments Per Kilobase of exon per Million reads), generated by the The Cancer Genome Atlas (TCGA). RNA cancer tissue category is calculated based on mRNA expression levels across all 17 cancer tissues and include: cancer tissue enriched, cancer group enriched, cancer tissue enhanced, expressed in all, mixed and not detected. To access cancer specific RNA and prognostic data, click on the cancer name.

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RNA cancer category: Expressed in all

PROTEIN EXPRESSIONⁱ

STAINING SUMMARYⁱ

CAB000102

GENE INFORMATIONⁱ Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Gene name	ATM (HGNC Symbol)
Synonyms	ATA, ATC, ATD, ATDC, TEL1, TELO1
Description	ATM serine/threonine kinase (HGNC Symbol)
Entrez gene summary	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]
Chromosome	11
Cytoband	q22.3
Chromosome location (bp)	108222484 - 108369102
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000149311 (version 83.38)
Entrez gene	472
UniProt	Q13315 (UniProt - Evidence at protein level)
neXtProt	NX_Q13315
Antibodypedia	ATM antibodies

PROTEIN BROWSERⁱ

ATM-001	ATM-002	ATM-003	ATM-004	ATM-012	ATM-016	ATM-026	ATM-027	ATM-201

PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein. The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class. The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ATM-001 ENSP00000435747 ENST00000527805	E9PIN0 [Direct mapping] Serine-protein kinase ATM Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0004674 [protein serine/threonine kinase activity] GO:0005488 [binding] GO:0006468 [protein phosphorylation] Show all	1369 aa 157 kDa	No	1
ATM-002 ENSP00000483338 ENST00000530958	A0A087X0E9 [Direct mapping] Serine-protein kinase ATM Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0004674 [protein serine/threonine kinase activity] GO:0006468 [protein phosphorylation] Show all	168 aa 19.8 kDa	No	0
ATM-003 ENSP00000388058 ENST00000452508	Q13315 [Direct mapping] Serine-protein kinase ATM A0A024R3C7 [Target identity:100%; Query identity:100%] Ataxia telangiectasia mutated (Includes complementation groups A, C and D), isoform CRA_a Show all	Enzymes ENZYME proteins Transferases Kinases Atypical kinases SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0000781 [chromosome, telomeric region] GO:0002331 [pre-B cell allelic exclusion] GO:0003677 [DNA binding] GO:0004674 [protein serine/threonine kinase activity] GO:0004677 [DNA-dependent protein kinase activity] GO:0005488 [binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005654 [nucleoplasm] GO:0006281 [DNA repair] GO:0006302 [double-strand break repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0006468 [protein phosphorylation] GO:0006974 [cellular response to DNA damage stimulus] GO:0006975 [DNA damage induced protein phosphorylation] GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] GO:0007050 [cell cycle arrest] GO:0007094 [mitotic spindle assembly checkpoint] GO:0007131 [reciprocal meiotic recombination] GO:0007165 [signal transduction] GO:0010212 [response to ionizing radiation] GO:0016023 [cytoplasmic membrane-bounded vesicle] GO:0016303 [1-phosphatidylinositol-3-kinase activity] GO:0016773 [phosphotransferase activity, alcohol group as acceptor] GO:0018105 [peptidyl-serine phosphorylation] GO:0030889 [negative regulation of B cell proliferation] GO:0032403 [protein complex binding] GO:0034605 [cellular response to heat] GO:0036092 [phosphatidylinositol-3-phosphate biosynthetic process] GO:0036289 [peptidyl-serine autophosphorylation] GO:0043065 [positive regulation of apoptotic process] GO:0043517 [positive regulation of DNA damage response, signal transduction by p53 class mediator] GO:0045003 [double-strand break repair via synthesis-dependent strand annealing] GO:0046777 [protein autophosphorylation] GO:0046983 [protein dimerization activity] GO:0047485 [protein N-terminus binding] GO:0071044 [histone mRNA catabolic process] GO:0071480 [cellular response to gamma radiation] GO:0072434 [signal transduction involved in mitotic G2 DNA damage checkpoint] GO:0090399 [replicative senescence] GO:1900034 [regulation of cellular response to heat] GO:1990391 [DNA repair complex] Show all	3056 aa 350.7 kDa	No	0
ATM-004 ENSP00000480205 ENST00000526567	Q6P7P1 [Direct mapping] ATM protein; Serine-protein kinase ATM Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0004674 [protein serine/threonine kinase activity] GO:0006468 [protein phosphorylation] Show all	112 aa 13.3 kDa	No	0
ATM-012 ENSP00000434327 ENST00000531525	H0YDU7 [Direct mapping] Serine-protein kinase ATM Show all	SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000724 [double-strand break repair via homologous recombination] Show all	155 aa 17.5 kDa	No	0
ATM-016 ENSP00000432318 ENST00000532931	E9PRG7 [Direct mapping] Serine-protein kinase ATM Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0004674 [protein serine/threonine kinase activity] GO:0006468 [protein phosphorylation] Show all	93 aa 11.1 kDa	No	0
ATM-026 ENSP00000433955 ENST00000527891	E9PIQ5 [Direct mapping] Serine-protein kinase ATM Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0004674 [protein serine/threonine kinase activity] GO:0006468 [protein phosphorylation] Show all	154 aa 18.1 kDa	No	0
ATM-027 ENSP00000469471 ENST00000601453	M0QXY8 [Direct mapping] Serine-protein kinase ATM Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000724 [double-strand break repair via homologous recombination] GO:0004674 [protein serine/threonine kinase activity] GO:0006468 [protein phosphorylation] Show all	135 aa 15.9 kDa	No	0
ATM-201 ENSP00000278616 ENST00000278616	Q13315 [Direct mapping] Serine-protein kinase ATM A0A024R3C7 [Target identity:100%; Query identity:100%] Ataxia telangiectasia mutated (Includes complementation groups A, C and D), isoform CRA_a Show all	Enzymes ENZYME proteins Transferases Kinases Atypical kinases SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000077 [DNA damage checkpoint] GO:0000724 [double-strand break repair via homologous recombination] GO:0000781 [chromosome, telomeric region] GO:0001666 [response to hypoxia] GO:0001756 [somitogenesis] GO:0002331 [pre-B cell allelic exclusion] GO:0003677 [DNA binding] GO:0004674 [protein serine/threonine kinase activity] GO:0004677 [DNA-dependent protein kinase activity] GO:0005488 [binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005819 [spindle] GO:0006281 [DNA repair] GO:0006302 [double-strand break repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0006468 [protein phosphorylation] GO:0006915 [apoptotic process] GO:0006974 [cellular response to DNA damage stimulus] GO:0006975 [DNA damage induced protein phosphorylation] GO:0006977 [DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest] GO:0007050 [cell cycle arrest] GO:0007094 [mitotic spindle assembly checkpoint] GO:0007131 [reciprocal meiotic recombination] GO:0007165 [signal transduction] GO:0007292 [female gamete generation] GO:0007420 [brain development] GO:0007507 [heart development] GO:0008340 [determination of adult lifespan] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0010212 [response to ionizing radiation] GO:0016023 [cytoplasmic membrane-bounded vesicle] GO:0016303 [1-phosphatidylinositol-3-kinase activity] GO:0016773 [phosphotransferase activity, alcohol group as acceptor] GO:0018105 [peptidyl-serine phosphorylation] GO:0030889 [negative regulation of B cell proliferation] GO:0032403 [protein complex binding] GO:0033129 [positive regulation of histone phosphorylation] GO:0033151 [V(D)J recombination] GO:0034605 [cellular response to heat] GO:0036092 [phosphatidylinositol-3-phosphate biosynthetic process] GO:0036289 [peptidyl-serine autophosphorylation] GO:0042159 [lipoprotein catabolic process] GO:0043065 [positive regulation of apoptotic process] GO:0043517 [positive regulation of DNA damage response, signal transduction by p53 class mediator] GO:0043525 [positive regulation of neuron apoptotic process] GO:0045003 [double-strand break repair via synthesis-dependent strand annealing] GO:0045141 [meiotic telomere clustering] GO:0046777 [protein autophosphorylation] GO:0046983 [protein dimerization activity] GO:0047485 [protein N-terminus binding] GO:0048599 [oocyte development] GO:0051402 [neuron apoptotic process] GO:0051726 [regulation of cell cycle] GO:0071044 [histone mRNA catabolic process] GO:0071480 [cellular response to gamma radiation] GO:0072434 [signal transduction involved in mitotic G2 DNA damage checkpoint] GO:0090399 [replicative senescence] GO:1900034 [regulation of cellular response to heat] GO:1901216 [positive regulation of neuron death] GO:1990391 [DNA repair complex] Show all	3056 aa 350.7 kDa	No	0