Gene Report
Basic Info
Approved Symbol |
ATM
|
Previous Symbol |
ATA, ATDC, ATC, ATD |
Symbol Alias |
TEL1, TELO1 |
Approved Name |
ataxia telangiectasia mutated |
Previous Name |
ataxia telangiectasia mutated (includes complementation groups A, C and D) |
Name Alias |
TEL1, telomere maintenance 1, homolog (S. cerevisiae) |
Location |
11q22-q23 |
Position |
chr11:108093211-108239829, + |
External Links |
HGNC: 795
Entrez Gene: 472
UCSC: uc001pkb.1
|
No. of Studies |
0 (significant: 0; non-significant: 0; trend: 0) |
Source |
Mapped by CNV; Mapped by significant region |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 1)
Gene related other variant (count: 0)
Gene related regions (count: 2)
Gene related GO terms (count: 48)
Gene related KEGG pathways (count: 3)
ID |
Name |
No. of Genes in ADHDgene |
Brief Description |
hsa04110 |
Cell cycle |
19 |
Mitotic cell cycle progression is accomplished through a rep......
Mitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cyclin-dependent kinases (CDKs) are key regulatory enzymes, each consisting of a catalytic CDK subunit and an activating cyclin subunit. CDKs regulate the cell's progression through the phases of the cell cycle by modulating the activity of key substrates. Downstream targets of CDKs include transcription factor E2F and its regulator Rb. Precise activation and inactivation of CDKs at specific points in the cell cycle are required for orderly cell division. Cyclin-CDK inhibitors (CKIs), such as p16Ink4a, p15Ink4b, p27Kip1, and p21Cip1, are involved in the negative regulation of CDK activities, thus providing a pathway through which the cell cycle is negatively regulated.
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|
hsa04115 |
p53 signaling pathway |
14 |
p53 activation is induced by a number of stress signals, inc......
p53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated genes. This results in three major outputs; cell cycle arrest, cellular senescence or apoptosis. Other p53-regulated gene functions communicate with adjacent cells, repair the damaged DNA or set up positive and negative feedback loops that enhance or attenuate the functions of the p53 protein and integrate these stress responses with other signal transduction pathways.
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|
hsa04210 |
Apoptosis |
13 |
Apoptosis is a genetically controlled mechanisms of cell dea......
Apoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily members and ligands) and the intrinsic (mitochondria-associated) pathways, both of which are found in the cytoplasm. The extrinsic pathway is triggered by death receptor engagement, which initiates a signaling cascade mediated by caspase-8 activation. Caspase-8 both feeds directly into caspase-3 activation and stimulates the release of cytochrome c by the mitochondria. Caspase-3 activation leads to the degradation of cellular proteins necessary to maintain cell survival and integrity. The intrinsic pathway occurs when various apoptotic stimuli trigger the release of cytochrome c from the mitochondria (independently of caspase-8 activation). Cytochrome c interacts with Apaf-1 and caspase-9 to promote the activation of caspase-3. Recent studies point to the ER as a third subcellular compartment implicated in apoptotic execution. Alterations in Ca2+ homeostasis and accumulation of misfolded proteins in the ER cause ER stress. Prolonged ER stress can result in the activation of BAD and/or caspase-12, and execute apoptosis.
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|
Genes shared at least 5 GO terms with ATM (count: 50)
Genes shared at least 2 KEGG pathways with ATM (count: 4)
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