ataxia telangiectasia mutated

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Synonym

ATD, Ataxia telangiectasia mutated, A-T, mutated, DKFZp781A0353, ATE, Serine-protein kinase ATM, TELO1, ATA, ATM, TEL1, ATDC, MGC74674, ATC

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:3.60 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:30.70 spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:- peripheral blood:- spleen:- thymus:12.90 bone marrow:19.70 adipose:- bone:- skin:19.20
GeneChip cerebrum:7.17 cerebellum:7.28 brain stem:7.07 corpus callosum/glia:8.20 pineal gland:- peripheral nerve:7.62 spine:7.44 retina:- eye:- artery/aorta:6.93 vein:6.75 lymphnode:9.24 peripheral blood:- spleen:8.96 thymus:8.69 bone marrow:7.37 adipose:6.87 bone:- skin:6.78
CAGE cerebrum:3.43 cerebellum:- brain stem:3.71 corpus callosum/glia:3.45 pineal gland:4.07 peripheral nerve:- spine:4.07 retina:- eye:- artery/aorta:3.06 vein:3.79 lymphnode:3.78 peripheral blood:- spleen:3.98 thymus:3.63 bone marrow:- adipose:3.18 bone:- skin:-
RNA-seq cerebrum:1.91 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:3.93 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:1.97 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:- placenta:- prostate:- ovary:- testis:60.60 heart:- muscle:- esophagus:- stomach:- intestine:- colon:-     liver/hepato:21.10        lung:-    bladder:- kidney:- pituitary:116 thyroid/parathyroid:- adrenal gland:- pancreas:8.90 breast:9.30 salivary:-
GeneChip uterus:7.68 placenta:7.18 prostate:6.89 ovary:8.07 testis:6.68 heart:7.05 muscle:6.17 esophagus:6.84 stomach:7.56 intestine:6.92 colon:6.82 liver/hepato:7.36 lung:7.84 bladder:- kidney:6.98 pituitary:7.80 thyroid/parathyroid:7.61 adrenal gland:7.58 pancreas:6.91 breast:7.49 salivary:7.80
CAGE uterus:3.41 placenta:2.58 prostate:3.29 ovary:3.48 testis:2.72 heart:3.21 muscle:2.52 esophagus:2.97 stomach:- intestine:2.80 colon:3.01     liver/hepato:2.73    lung:3.45 bladder:3.35 kidney:2.91 pituitary:4.38 thyroid/parathyroid:3.06 adrenal gland:- pancreas:2.98 breast:3.22 salivary:3.46
RNA-seq uterus:- placenta:- prostate:2.35 ovary:3.30 testis:2.17 heart:1.94 muscle:1.10 esophagus:- stomach:- intestine:- colon:1.80     liver/hepato:1.59        lung:2.00    bladder:- kidney:2.36 pituitary:- thyroid/parathyroid:2.25 adrenal gland:3.17 pancreas:- breast:2.13 salivary:-

IDs

Refseq ID NM_000051
Gene ID 472
Unigene ID Hs.367437
Probe set ID 210858_x_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000149311
GTEx ID ENSG00000149311

Orthologous Gene

Mouse[1]  NM_007499
Rat[1]  NM_001106821

Chromosomal Region

Gene Family (Interpro ID)

Link to Pubmed  (Pubmed ID)

2001833
2491181
3200306
7644499
7702088
7792600
8521392
8589678
8698354
8755918
8789452
8797579
8808599
8845835
8968760
8969240
8988033
9043869
9050866
9108147
9135004
9150358
9168116
9168117
9199932
9288106
9334731
9443866
9450874
9463314
9488043
9488723
9497252
9521587
9573030
9600235
9707615
9711876
9733514
9733515
9765199
9766667
9781027
9792409
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9806882
9836640
9843217
9872980
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9892178
9925639
10023947
10212258
10217116
10234507
10397742
10425038
10464290
10500142
10531300
10534763
10550055
10567403
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10608806
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10713094
10738255
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10783165
10802669
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Gene Ontology  (GO ID)

Biological Process

GO:0007420  brain development
GO:0007050  cell cycle arrest
GO:0071480  cellular response to gamma radiation
GO:0006975  DNA damage induced protein phosphorylation
GO:0006977  DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0008630  DNA damage response, signal transduction resulting in induction of apoptosis
GO:0006281  DNA repair
GO:0006302  double-strand break repair
GO:0000724  double-strand break repair via homologous recombination
GO:0007292  female gamete generation
GO:0031572  G2/M transition DNA damage checkpoint
GO:0007507  heart development
GO:0071044  histone mRNA catabolic process
GO:0042159  lipoprotein catabolic process
GO:0007094  mitotic cell cycle spindle assembly checkpoint
GO:0043066  negative regulation of apoptosis
GO:0030889  negative regulation of B cell proliferation
GO:0051402  neuron apoptosis
GO:0018105  peptidyl-serine phosphorylation
GO:0043065  positive regulation of apoptosis
GO:0043517  positive regulation of DNA damage response, signal transduction by p53 class mediator
GO:0043525  positive regulation of neuron apoptosis
GO:0002331  pre-B cell allelic exclusion
GO:0046777  protein amino acid autophosphorylation
GO:0006468  protein amino acid phosphorylation
GO:0007131  reciprocal meiotic recombination
GO:0006974  response to DNA damage stimulus
GO:0001666  response to hypoxia
GO:0010212  response to ionizing radiation
GO:0007165  signal transduction
GO:0001756  somitogenesis
GO:0000723  telomere maintenance

Cellular Component

GO:0000781  chromosome, telomeric region
GO:0016023  cytoplasmic membrane-bounded vesicle
GO:0005654  nucleoplasm
GO:0005819  spindle

Molecular Function

GO:0016303  1-phosphatidylinositol-3-kinase activity
GO:0005524  ATP binding
GO:0003677  DNA binding
GO:0004677  DNA-dependent protein kinase activity
GO:0035174  histone serine kinase activity
GO:0005515  protein binding
GO:0032403  protein complex binding
GO:0046983  protein dimerization activity
GO:0047485  protein N-terminus binding
GO:0004674  protein serine/threonine kinase activity