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Gene : ATM Homo sapiens

Name  ? ATM serine/threonine kinase Cytological Location  11q22.3
Brief Description  ATM serine/threonine kinase
Description  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]
  • synonyms:
  • AT1,
  • ATM,
  • AB209133,
  • ATA,
  • ataxia telangiectasia mutated (includes complementation groups A, C and D),
  • ataxia telangiectasia mutated,
  • ATC,
  • TEL1, telomere maintenance 1, homolog (S. cerevisiae),
  • HGNC:795,
  • ATD,
  • NM_000051,
  • ATDC,
  • OTTHUMG00000166480,
  • TELO1,
  • uc001pkb.1,
  • TEL1,
  • ATE,
  • ATA,
  • ATC,
  • ATD,
  • ATDC,
  • TELO1,
  • TEL1
  • identifiers:
  • 472,
  • ENSG00000149311,
  • ATM

Genome feature

Region: gene ? Length: 146619  
Location: 11:108222484-108369102 Cyto location: 11q22.3


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Function

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54 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

54 Pathways

3753 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results