ATM wt Allele - CISMeF

Preferred Label : ATM wt Allele;

NCIt synonyms : ATM Serine/Threonine Kinase wt Allele; AT Gene; ATA; Ataxia-Telangiectasia Gene; ATDC; Ataxia-Telangiectasia Mutated Gene; ATD; Louis-Bar Syndrome Gene; ATE; AT1; ATC; Ataxia Telangiectasia Mutated Gene; TEL1, Telomere Maintenance 1, Homolog (S. cerevisiae) Gene; TEL1, Telomere Maintenance 1, Homolog Gene; TEL1; TELO1; A-T Mutated Gene; Ataxia Telangiectasia Mutated (Includes Complementation Groups A, C and D) Gene; AT Mutated Gene;

NCIt definition : Human ATM wild-type allele is located within 11q22-q23 and is approximately 143 kb in length. This allele, which encodes serine-protein kinase ATM protein, plays a critical role in cell cycle checkpoint signaling pathways required for cellular response to DNA damage and maintenance of genomic stability. Defects in the ATM gene cause ataxia telangiectasia and contribute to certain cancers such as T-cell acute lymphoblastic leukemia, B-cell chronic lymphocytic leukemia and B-cell non-Hodgkin lymphomas.;

GenBank Accession Number : NM_138293;

Details

Origin ID

C51192;

UMLS CUI

C1705846;

False automatic mappings
- Eating [ICNP subject]
- Eating (observable entity) [SNOMED CT concept]
- eating [ICF N2 Element]
- eating [MeSH Descriptor]
- eating [MeSH concept]
- eating, nos [SNOMED Notion]
OMIM relation
- Atm serine/threonine kinase [OMIM gene]
See also inter- (CISMeF)
- Ehlers-danlos syndrome, musculocontractural type, 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Breast Carcinoma [NCIt concept]
- Leukemia [NCIt concept]
- Lymphoma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- ATM Gene Mutation [NCIt concept]
gene_has_physical_location
- 11: 107599053-107741971 [NCIt concept]
gene_in_chromosomal_location
- 11q22-q23 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Ataxia Telangiectasia Syndrome [NCIt concept]
gene_is_element_in_pathway
- ATM Signaling Pathway [NCIt concept]
- Apoptosis DNA Damage Pathway [NCIt concept]
- Apoptosis Pathway [NCIt concept]
- BARD1 Signaling Pathway [NCIt concept]
- CDC25 and CHK1 Regulatory Pathway [NCIt concept]
- Cancer Susceptibility Pathway [NCIt concept]
- Cell Cycle Pathway [NCIt concept]
- Cell Cycle Progression Pathway [NCIt concept]
- G1/S Checkpoint Pathway [NCIt concept]
- G2/M Checkpoint Pathway [NCIt concept]
- Hypoxia Pathway [NCIt concept]
- RB Checkpoint Signaling Pathway [NCIt concept]
- Telomerase Regulation Pathway [NCIt concept]
- p38 MAPK Signaling Pathway PID [NCIt concept]
- p53 Signaling Pathway BioCarta [NCIt concept]
- p53 Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- DNA Repair [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- T-Cell Differentiation [NCIt concept]

Keyword's position in hierarchy(ies) :

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