ATR Gene (Protein Coding)

ATR Serine/Threonine Kinase

GC03M142449
GIFtS:
52
The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site st... See more...

Aliases for ATR Gene

Aliases for ATR Gene

  • ATR Serine/Threonine Kinase 2 3 5
  • FRP1 2 3 4
  • Ataxia Telangiectasia And Rad3-Related Protein 3 4
  • Serine/Threonine-Protein Kinase ATR 3 4
  • EC 2.7.11.1 4 50
  • SCKL1 2 3
  • MEC1 2 3
  • SCKL 2 3
  • MEC1, Mitosis Entry Checkpoint 1, Homolog (S. Cerevisiae) 2
  • MEC1, Mitosis Entry Checkpoint 1, Homolog 3
  • Ataxia Telangiectasia And Rad3 Related 2
  • FRAP-Related Protein-1 3
  • FRAP-Related Protein 1 4
  • FCTCS 3
  • ATR 5

External Ids for ATR Gene

Previous GeneCards Identifiers for ATR Gene

  • GC03M139200
  • GC03M142996
  • GC03M143449
  • GC03M143488
  • GC03M143650
  • GC03M142168
  • GC03M139541

Summaries for ATR Gene

Entrez Gene Summary for ATR Gene

  • The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]

CIViC Summary for ATR Gene

GeneCards Summary for ATR Gene

ATR (ATR Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with ATR include Cutaneous Telangiectasia And Cancer Syndrome, Familial and Seckel Syndrome 1. Among its related pathways are DNA Double-Strand Break Repair and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and binding. An important paralog of this gene is ATM.

UniProtKB/Swiss-Prot Summary for ATR Gene

  • Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates 'Ser-139' of histone variant H2AX at sites of DNA damage, thereby regulating DNA damage response mechanism. Required for FANCD2 ubiquitination. Critical for maintenance of fragile site stability and efficient regulation of centrosome duplication. Positively regulates the restart of stalled replication forks following activation by the KHDC3L-OOEP scaffold complex (By similarity).

Tocris Summary for ATR 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 ATR Gene

Additional gene information for ATR Gene

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

Genomics for ATR Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ATR 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 ATR on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the ATR gene promoter:
  • AP-1
  • AP-4
  • ATF-2
  • c-Jun
  • E47
  • Lhx3a
  • LHX3b
  • Tal-1beta

Genomic Locations for ATR Gene

Latest Assembly
chr3:142,449,007-142,578,793
(GRCh38/hg38)
Size:
129,787 bases
Orientation:
Minus strand

Previous Assembly
chr3:142,168,077-142,297,575
(GRCh37/hg19 by Entrez Gene)
Size:
129,499 bases
Orientation:
Minus strand

chr3:142,168,077-142,297,668
(GRCh37/hg19 by Ensembl)
Size:
129,592 bases
Orientation:
Minus strand

Genomic View for ATR Gene

Genes around ATR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATR Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ATR Gene

Proteins for ATR Gene

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  • Protein details for ATR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13535-ATR_HUMAN
    Recommended name:
    Serine/threonine-protein kinase ATR
    Protein Accession:
    Q13535
    Secondary Accessions:
    • Q59HB2
    • Q7KYL3
    • Q93051
    • Q9BXK4

    Protein attributes for ATR Gene

    Size:
    2644 amino acids
    Molecular mass:
    301367 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Forms a heterodimer with ATRIP.(PubMed:11721054). Binds to DNA, and to UV-damaged DNA with higher affinity. Interacts with RAD17, MSH2 and HDAC2. Present in a complex containing ATRIP and RPA-coated single-stranded DNA. Present in a complex containing CHD4 and HDAC2. Interacts with EEF1E1, the interaction is enhanced by UV irradiation. Interacts with CLSPN and CEP164. Interacts with TELO2 and TTI1. Interacts with BCR-ABL after genotoxic stress.

    Three dimensional structures from OCA and Proteopedia for ATR Gene

    Alternative splice isoforms for ATR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATR Gene

Protein Expression for ATR Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ATR Gene

Q13535:
  • FLDLIPQ
  • HVDFNCLF
  • LHIRTYAV
  • SLQKPKK
  • CKPKDDLRKD

Post-translational modifications for ATR Gene

  • Phosphorylated; autophosphorylates in vitro.
  • Ubiquitination at Lys32, Lys746, Lys1005, and Lys2604
  • Modification sites at PhosphoSitePlus

Other Protein References for ATR Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ATR Gene

Gene Families for ATR Gene

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

Protein Domains for ATR Gene

InterPro:
Blocks:
  • HEAT repeat
  • Phosphatidylinositol 3- and 4-kinase
  • PIK-related kinase, FAT
  • UME

Suggested Antigen Peptide Sequences for ATR Gene

GenScript: Design optimal peptide antigens:
  • FRAP-related protein 1 (ATR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13535

UniProtKB/Swiss-Prot:

ATR_HUMAN :
  • Belongs to the PI3/PI4-kinase family. ATM subfamily.
Family:
  • Belongs to the PI3/PI4-kinase family. ATM subfamily.
genes like me logo Genes that share domains with ATR: view

Function for ATR Gene

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Molecular function for ATR Gene

UniProtKB/Swiss-Prot Function:
Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates 'Ser-139' of histone variant H2AX at sites of DNA damage, thereby regulating DNA damage response mechanism. Required for FANCD2 ubiquitination. Critical for maintenance of fragile site stability and efficient regulation of centrosome duplication. Positively regulates the restart of stalled replication forks following activation by the KHDC3L-OOEP scaffold complex (By similarity).
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;.
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;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Serine/threonine-protein kinase activity is directly stimulated by TOPBP1 (PubMed:16530042). ATR kinase activity is also directly activated by ETAA1, independently of TOPBP1 (PubMed:27723720, PubMed:27723717). Activated by DNA and inhibited by BCR-ABL oncogene (PubMed:10597277). Slightly activated by ATRIP (PubMed:14729973). Inhibited by caffeine, wortmannin and LY294002 (PubMed:9766667).
GENATLAS Biochemistry:
ataxia telangiectasia and RAD3 related,homologous to cell cycle G2 checkpoint genes Drosophila Mei-41,S cerevisiae Mec1p,S pombe RAD3,mainly expressed in testis and skeletal muscle,required for meiosisprophase I (associated with synaptomenal complex in RAD51 and RPA sites)

Enzyme Numbers (IUBMB) for ATR Gene

Phenotypes From GWAS Catalog for ATR Gene

Gene Ontology (GO) - Molecular Function for ATR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA --
GO:0004672 protein kinase activity TAS,IDA 14657349
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0005515 protein binding IPI 9733515
genes like me logo Genes that share ontologies with ATR: view

Phenotypes for ATR Gene

MGI mutant phenotypes for ATR:
inferred from 8 alleles
GenomeRNAi human phenotypes for ATR:
genes like me logo Genes that share phenotypes with ATR: view

Human Phenotype Ontology for ATR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATR Gene

MGI Knock Outs for ATR:
  • Atr Atr<tm1b(KOMP)Wtsi>
  • Atr Atr<tm1Bal>
  • Atr Atr<tm1Akl>

Animal Models for research

miRNA for ATR Gene

miRTarBase miRNAs that target ATR

Inhibitory RNAs for research

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

No data available for Transcription Factor Targets and HOMER Transcription for ATR Gene

Localization for ATR Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATR Gene

Nucleus. Chromosome. Note=Depending on the cell type, it can also be found in PML nuclear bodies. Recruited to chromatin during S-phase. Redistributes to discrete nuclear foci upon DNA damage, hypoxia or replication fork stalling.

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 ATR gene
Compartment Confidence
nucleus 5
golgi apparatus 4
plasma membrane 3
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Golgi apparatus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 colocalizes_with chromosome, telomeric region IC 26586433
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome ISS --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with ATR: view

Pathways & Interactions for ATR Gene

genes like me logo Genes that share pathways with ATR: view

Pathways by source for ATR Gene

1 Sino Biological pathway for ATR Gene
5 GeneGo (Thomson Reuters) pathways for ATR 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 ATR Gene
13 Qiagen pathways for ATR Gene
  • BRCA1 Pathway
  • Chks in Checkpoint Regulation
  • Cyclins and Cell Cycle Regulation
  • DNA Damage Induced 14-3-3Sigma Signaling
  • DNA Repair Mechanisms
1 Cell Signaling Technology pathway for ATR Gene
2 GeneTex pathways for ATR Gene

SIGNOR curated interactions for ATR Gene

Activates:
Inactivates:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for ATR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IBA,IDA 14657349
GO:0000723 telomere maintenance IBA 21873635
GO:0006260 DNA replication TAS --
GO:0006281 DNA repair TAS 8610130
GO:0006468 protein phosphorylation IEA --
genes like me logo Genes that share ontologies with ATR: view

Drugs & Compounds for ATR Gene

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(52) Drugs for ATR Gene - From: ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluoxetine Approved, Vet_approved Pharma 290
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2590
rituximab Approved Pharma Therapeutic Antibodies 2114
Floxuridine Approved Pharma Antineoplastic antimetabolite, Inhibitor of thymidylate synthetase; anticancer agent, RNA and DNA synthesis inhibitor 59
Niraparib Approved, Investigational Pharma inhibitor, Biomarker PARP inhibitor, PARP Inhibitors 130

(7) Additional Compounds for ATR Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
KU 60019
925701-46-8

(4) Tocris Compounds for ATR 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

(10) ApexBio Compounds for ATR Gene

Compound Action Cas Number
AZ20 ATR inhibitor,potent and selective 1233339-22-4
AZD6738 ATR inhibitor 1352226-88-0
CGK733 ATM/ATR inhibitor,potent and selective 905973-89-9
ETP-46464 ATR inhibitor,potent and selective 1345675-02-6
Floxuridine Antineoplastic antimetabolite 50-91-9
KU 55933 ATM inhibitor,potent and selective 587871-26-9
Mirin 1198097-97-0
Torin 2 MTOR inhibitor,highly potent and selective 1223001-51-1
VE-821 ATR kinase inhibitor 1232410-49-9
VE-822 ATR inhibitor 1232416-25-9
genes like me logo Genes that share compounds with ATR: view

Drug products for research

Transcripts for ATR Gene

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mRNA/cDNA for ATR Gene

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

Inhibitory RNAs for research

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

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:
SP3:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45a · 45b ^ 46a · 46b ^ 47 ^ 48a · 48b
SP1: - -
SP2:
SP3: -

Relevant External Links for ATR Gene

GeneLoc Exon Structure for
ATR

Expression for ATR Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATR Gene

mRNA expression in normal human tissues for ATR Gene
mRNA expression by BioGPS for ATR GenemRNA expression by GTEx for ATR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATR Gene

This gene is overexpressed in Serum (24.7), Liver, secretome (11.1), Testis (10.1), and Monocytes (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATR Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATR

SOURCE GeneReport for Unigene cluster for ATR Gene:

Hs.271791

mRNA Expression by UniProt/SwissProt for ATR Gene:

Q13535-ATR_HUMAN
Tissue specificity: Ubiquitous, with highest expression in testis. Isoform 2 is found in pancreas, placenta and liver but not in heart, testis and ovary.

Evidence on tissue expression from TISSUES for ATR Gene

  • Blood(4.5)
  • Nervous system(4.5)
  • Skin(2.5)
  • Intestine(2.5)
  • Kidney(2.3)
  • Spleen(2.2)
  • Liver(2.1)
  • Bone marrow(2.1)
  • Lung(2.1)
  • Lymph node(2.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • penis
  • testicle
  • urethra
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ATR: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ATR Gene

Orthologs for ATR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ATR 29 30
  • 99.65 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ATR 29 30
  • 92.98 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ATR 29 30
  • 92.15 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 92 (a)
 OneToMany
-- 30
  • 88 (a)
 OneToMany
-- 30
  • 85 (a)
 OneToMany
-- 30
  • 83 (a)
 OneToMany
-- 30
  • 78 (a)
 OneToMany
-- 30
  • 73 (a)
 OneToMany
-- 30
  • 62 (a)
 OneToMany
-- 30
  • 44 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Atr 29
  • 89.02 (n)
Mouse
(Mus musculus)
 Mammalia Atr 29 16 30
  • 88.63 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ATR 30
  • 86 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ATR 29 30
  • 75.3 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ATR 30
  • 73 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia atr 29
  • 69.27 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Atr 29
Zebrafish
(Danio rerio)
 Actinopterygii atr 29 30
  • 63.51 (n)
 ManyToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5590 29
Fruit Fly
(Drosophila melanogaster)
 Insecta mei-41 30
  • 27 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea atl-1 30
  • 20 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MEC1 30 32
  • 24 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 51 (a)
 ManyToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.7365 29
Species where no ortholog for ATR 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATR Gene

ENSEMBL:
Gene Tree for ATR (if available)
TreeFam:
Gene Tree for ATR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATR: view image
Alliance of Genome Resources:
Additional Orthologs for ATR

Paralogs for ATR Gene

Paralogs for ATR Gene

(3) SIMAP similar genes for ATR Gene using alignment to 7 proteins:

  • ATR_HUMAN
  • D6RFJ6_HUMAN
  • D6RIG7_HUMAN
  • H0Y8R8_HUMAN
  • H0Y8Y6_HUMAN
  • H0Y9K2_HUMAN
  • H0Y9Q8_HUMAN
genes like me logo Genes that share paralogs with ATR: view

Variants for ATR Gene

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  1. SNP Genotyping and Copy Number Assays for research

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

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1000206 Uncertain Significance: not provided 142,561,363(-) T/A
NM_001184.4(ATR):c.1229A>T (p.Glu410Val) 		MISSENSE
1001021 Uncertain Significance: not provided 142,555,901(-) T/C
NM_001184.4(ATR):c.2317A>G (p.Lys773Glu) 		MISSENSE
1002078 Uncertain Significance: not provided 142,555,957(-) G/A
NM_001184.4(ATR):c.2261C>T (p.Ser754Leu) 		MISSENSE
1002083 Uncertain Significance: not provided 142,561,270(-) G/A
NM_001184.4(ATR):c.1322C>T (p.Ser441Phe) 		MISSENSE
1002523 Uncertain Significance: not provided 142,562,469(-) T/G
NM_001184.4(ATR):c.933A>C (p.Arg311Ser) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv827n67 CNV loss 20364138
nsv1123695 CNV deletion 24896259
nsv523945 CNV gain 19592680
nsv528954 CNV loss 19592680
nsv591919 CNV gain 21841781

Variation tolerance for ATR Gene

Residual Variation Intolerance Score: 2.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.66; 72.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATR Gene

Human Gene Mutation Database (HGMD)
ATR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATR
Leiden Open Variation Database (LOVD)
ATR

SNP Genotyping and Copy Number Assays for research

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

Disorders for ATR Gene

MalaCards: The human disease database

(21) MalaCards diseases for ATR Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search ATR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATR_HUMAN
  • Seckel syndrome 1 (SCKL1) [MIM:210600]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269 PubMed:12640452}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Cutaneous telangiectasia and cancer syndrome, familial (FCTCS) [MIM:614564]: A disease characterized by cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well. {ECO:0000269 PubMed:22341969}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ATR

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ATR: view

No data available for Genatlas for ATR Gene

Publications for ATR Gene

  1. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. (PMID: 12640452) O'Driscoll M … Goodship JA (Nature genetics 2003) 3 4 22 72
  2. ATR and ATRIP: partners in checkpoint signaling. (PMID: 11721054) Cortez D … Elledge SJ (Science (New York, N.Y.) 2001) 3 4 22 72
  3. cDNA cloning and gene mapping of a candidate human cell cycle checkpoint protein. (PMID: 8610130) Cimprich KA … Schreiber SL (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 22
  4. Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. (PMID: 22341969) Tanaka A … McGrath JA (American journal of human genetics 2012) 3 4 72
  5. ATR mutation in endometrioid endometrial cancer is associated with poor clinical outcomes. (PMID: 19470935) Zighelboim I … Goodfellow PJ (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009) 3 22 40

ExternalLinks

View latest publications for ATR gene in Mastermind

Products for ATR Gene

  • Addgene plasmids for ATR

Sources for ATR Gene