ATR ATR serine/threonine kinase

Gene ID: 545, updated on 2-May-2024
Gene type: protein coding
Also known as: FRP1; MEC1; SCKL; FCTCS; SCKL1

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome MedGen: C3281203OMIM: 614564GeneReviews: Not available	See labs
Seckel syndrome 1 MedGen: C4551474OMIM: 210600GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-06-05) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2020-06-05) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 3q23

Sequence:: Chromosome: 3; NC_000003.12 (142449235..142578733, complement)

Total number of exons:: 49

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ATR variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ATR database
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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