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Aliases for ATR Gene

Aliases for ATR Gene

  • ATR Serine/Threonine Kinase 2 3 5
  • Ataxia Telangiectasia And Rad3-Related Protein 3 4
  • EC 2.7.11.1 4 56
  • FRP1 3 4
  • MEC1, Mitosis Entry Checkpoint 1, Homolog (S. Cerevisiae) 2
  • MEC1, Mitosis Entry Checkpoint 1, Homolog 3
  • Ataxia Telangiectasia And Rad3 Related 2
  • Serine/Threonine-Protein Kinase ATR 3
  • FRAP-Related Protein-1 3
  • FRAP-Related Protein 1 4
  • FCTCS 3
  • SCKL1 3
  • MEC1 3
  • SCKL 3

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 Apoptotic Pathways in Synovial Fibroblasts and Circadian rhythm pathway. 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 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/H2AFX 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.

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 , fRNAdb sequence ontologies and piRNA Summary for ATR Gene

Genomics for ATR Gene

GeneHancer (GH) Regulatory Elements for ATR Gene

Promoters and enhancers for ATR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I142576 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.4 +0.4 395 3.4 CLOCK ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ATR PBX2P1 XRN1 GK5 U2SURP SUCLG2P1
GH03I143118 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 23.8 -542.5 -542523 5.5 HDGF PKNOX1 SMAD1 ATF1 SIN3A IRF4 POLR2B GLIS2 ZNF143 RUNX3 CHST2 U2SURP XRN1 ATR PBX2P1 GK5 ENSG00000241679 LOC105374137
GH03I142997 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 18.2 -421.6 -421595 6.2 MLX ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 ZNF610 U2SURP LOC100289361 XRN1 PBX2P1 ATR ST13P15 PAQR9-AS1 PAQR9 TFDP2 LOC100507389
GH03I142444 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 12.8 +131.8 131810 4.2 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B ZNF766 XRN1 PBX2P1 ATR RNU1-100P U2SURP RASA2 GC03M142421
GH03I141874 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.8 +701.7 701680 4.7 SMAD1 ARID4B SIN3A YY1 POLR2B E2F8 ZNF143 KLF13 SP5 MXD4 ATP1B3 XRN1 RASA2 ATR GK5 GC03P141887
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATR gene promoter:

Genomic Locations for ATR Gene

Genomic Locations for ATR Gene
chr3:142,449,235-142,578,826
(GRCh38/hg38)
Size:
129,592 bases
Orientation:
Minus strand
chr3:142,168,077-142,297,668
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for ATR Gene

Proteins for ATR Gene

  • 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:
    • Interacts with ATRIP; forming 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 BCR-ABL after genotoxic stress. Interacts with EEF1E1. This interaction is enhanced by UV irradiation. Interacts with CLSPN and CEP164. Interacts with TELO2 and TTI1.

    Alternative splice isoforms for ATR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATR Gene

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, posLast=10051005, and posLast=26042604
  • Modification sites at PhosphoSitePlus

Domains & Families for ATR Gene

Gene Families for ATR Gene

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

Suggested Antigen Peptide Sequences for ATR Gene

GenScript: Design optimal peptide antigens:

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

Molecular function for ATR Gene

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)
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
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).
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/H2AFX 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.

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 14657349
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:

miRNA for ATR Gene

Clone Products

  • Addgene plasmids 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. Nucleus, PML body. 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 5
plasma membrane 3
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ATR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 colocalizes_with nuclear chromosome, telomeric region IC 26586433
GO:0005634 nucleus IEA --
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

SIGNOR curated interactions for ATR Gene

Gene Ontology (GO) - Biological Process for ATR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IDA 14657349
GO:0006260 DNA replication TAS --
GO:0006281 DNA repair TAS 8610130
GO:0006974 cellular response to DNA damage stimulus TAS 15538388
GO:0007049 cell cycle TAS 9590286
genes like me logo Genes that share ontologies with ATR: view

Drugs & Compounds for ATR Gene

(42) 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 Channel blocker 245
Floxuridine Approved Pharma Antineoplastic antimetabolite, RNA and DNA synthesis inhibitor 50
Niraparib Approved, Investigational Pharma inhibitor, Biomarker PARP inhibitor, PARP Inhibitors 33
Olaparib Approved Pharma inhibitor, Biomarker, other PARP inhibitor, PARP Inhibitors, Other, Poly(ADPRIBOSE) polymerase (PARP) inhibitors 162
Rucaparib Approved, Investigational Pharma inhibitor, Biomarker, other PARP inhibitor, PARP Inhibitors, Other 23

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 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

Transcripts for ATR Gene

Unigene Clusters for ATR Gene

Ataxia telangiectasia and Rad3 related:
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
ATR

Expression for ATR Gene

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



NURSA nuclear receptor signaling pathways regulating expression of ATR Gene:

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(4.4)
  • Nervous system(4.2)
  • Heart(3.1)
  • Skin(2)

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

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 34 33
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATR 33 34
  • 92.98 (n)
cow
(Bos Taurus)
Mammalia ATR 33 34
  • 92.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
-- 34
  • 44 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atr 33
  • 89.02 (n)
mouse
(Mus musculus)
Mammalia Atr 33 16 34
  • 88.63 (n)
oppossum
(Monodelphis domestica)
Mammalia ATR 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATR 34 33
  • 75.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATR 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atr 33
  • 69.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Atr 33
zebrafish
(Danio rerio)
Actinopterygii atr 33 34
  • 63.51 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5590 33
fruit fly
(Drosophila melanogaster)
Insecta mei-41 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atl-1 34
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEC1 34 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7365 33
Species where no ortholog for ATR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for ATR Gene

Paralogs for ATR Gene

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

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

Variants for ATR Gene

Sequence variations from dbSNP and Humsavar for ATR Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1003651035 uncertain-significance, Seckel syndrome 142,566,188(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs10935466 likely-benign, uncertain-significance, not specified, Seckel syndrome 142,562,979(-) A/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs112018640 benign, likely-benign, not specified, Seckel syndrome 142,496,391(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs112116713 benign, uncertain-significance, not specified, Seckel syndrome 142,522,851(-) AAAAAAAAAAAA/AAAAAAAAAA/AAAAAAAAAAA/AAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAA intron_variant
rs112726878 uncertain-significance, not specified, Seckel syndrome 142,512,435(-) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ATR Gene

MalaCards: The human disease database

(15) MalaCards diseases for ATR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- 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
  • 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 mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for ATR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATR: view

No data available for Genatlas for ATR Gene

Publications for ATR Gene

  1. 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 58
  2. 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 44 58
  3. Mutation analysis of the ATR gene in breast and ovarian cancer families. (PMID: 15987455) Heikkinen K … Winqvist R (Breast cancer research : BCR 2005) 3 22 44 58
  4. Protein phosphatase 5 is required for ATR-mediated checkpoint activation. (PMID: 16260606) Zhang J … Wang XF (Molecular and cellular biology 2005) 3 4 22 58
  5. Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. (PMID: 15496423) Alderton GK … O'Driscoll M (Human molecular genetics 2004) 3 4 22 58

Products for ATR Gene

  • Addgene plasmids for ATR

Sources for ATR Gene

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