Human Prostate Gene DataBase

Name ataxia telangiectasia mutated (includes complementation groups A, C and D)
Symbol ATM
Aliases AT1; ATA; ATC; ATD; ATE; ATDC; AT mutated; AT protein; serine-protein kinase ATM; AT complementation group A; AT complementation group C; AT complementation group D; AT complementation group E; human phosphatidylinositol 3-kinase homolog
Gene Product
  • ataxia telangiectasia mutated protein, isoform 1
  • ataxia telangiectasia mutated protein, isoform 3
  • ataxia telangiectasia mutated protein, isoform 2
  • Mutation in Prostate cancer
SummaryThe protein encoded by this gene belongs to the PI3/PI4-kinase family. The mutations of this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. This protein is an important cell cycle checkpoint kinase that phosphorylates, and thus 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, as well as 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. At least three alternatively spliced transcript variants, which encode distinct isoforms, have been reported.
Gene Ontology
EST (163 ESTs, 86 libraries)
Tissue ? Frequency ? Count ?
adrenal gland (2/15)0.022 3/17521
bone marrow (1/263)0.022 2/38555
brain (4/204)0.008 4/362011
colon (3/853)0.017 3/165626
eye (4/33)0.033 8/93836
germ cell (2/7)0.010 2/57383
head and neck (1/990)1.000 1/79796
heart (1/22)0.002 1/55494
intestine (1/4)0.007 1/11528
kidney (4/86)0.004 6/132968
liver (2/38)0.025 6/46472
lung (6/312)0.010 16/245386
muscle (1/21)0.008 1/71297
nervous (3/475)0.852 5/43438
oral cavity (1/18)0.027 15/44567
ovary (1/144)0.013 1/81880
pancreas (1/33)0.004 1/117255
parathyroid (1/4)0.008 2/19377
placenta (3/342)0.008 7/157762
prostate (5/291)0.007 7/109871
stomach (2/312)0.009 3/129930
testis (4/171)0.004 5/117531
thymus (1/17)0.092 1/5021
uncharacterized tissue (25/1773)0.460 45/713325
uterus (6/212)0.006 10/155110
SAGE (6438135 tags, 114 libraries)
Tissue ? Frequency ? Count ?
blood (1/1)0.697 3/145569
brain (16/19)0.422 30/1468782
colon (7/8)1.000 25/965198
eye (5/6)0.755 20/1166281
heart (1/1)0.219 1/84357
kidney (1/2)0.221 1/41857
mammary gland (7/19)0.522 8/387928
ovary (4/10)0.568 5/190709
pancreas (6/8)0.462 9/263338
prostate (6/13)0.277 9/489450
stomach (1/3)0.070 1/66032
uncharacterized tissue (14/22)0.596 25/894889
vascular (2/3)0.506 5/273745
SNPrs1800701 (C/G:locus-region);  rs170548 (T/G:exception);  rs631733 (T/A:exception);  rs583725 (G/A:exception);  rs637064 (T/C:locus-region);  rs613183 (T/G:exception);  rs645485 (A/G:exception);  rs630239 (A/G:exception);  rs599406 (A/T:locus-region);  rs1633544 (T/C:exception);  rs632075 (A/G:exception);  rs664677 (C/T:locus-region);  rs1060788 (A/G:exception);  rs601111 (C/T:exception);  rs676719 (C/T:locus-region);  rs664982 (G/A:exception);  rs419716 (T/G:exception);  rs672655 (G/A:locus-region);  rs450294 (C/T:exception);  rs1270822 (T/A:exception);  rs600931 (G/A:locus-region);  rs678526 (T/G:exception);  rs1442730 (A/G:locus-region);  rs660330 (C/T:exception);  rs603277 (T/G:exception);  rs694376 (G/T:locus-region);  rs227092 (A/C:exception);  rs3092848 (A/C:locus-region);  rs609261 (A/G:mrna-utr);  rs425061 (G/A:exception);  rs673281 (A/G:exception);  rs600329 (T/C:exception);  rs621947 (C/T:exception);  rs626434 (T/C:locus-region);  rs172896 (C/T:locus-region);  rs2234993 (A/T:locus-region);  rs1801516 (G/A:exception);  rs2510636 (T/C:exception);  rs606275 (A/G:exception);  rs625184 (C/T:locus-region);  rs641252 (G/T:locus-region);  rs1003623 (A/G:locus-region);  rs611646 (A/T:exception);  rs3092840 (G/T:locus-region);  rs687647 (C/A:locus-region);  rs653515 (T/G:exception);  rs618499 (G/A:locus-region);  rs694799 (A/G:locus-region);  rs2301194 (G/A:exception);  rs582297 (G/C:exception);  rs1800558 (G/T:exception);  rs1243765 (G/A:exception);  rs227040 (T/A:exception);  rs371406 (T/C:exception);  rs179108 (C/T:exception);  rs662218 (A/C:exception);  rs651030 (T/G:locus-region);  rs650128 (T/C:exception);  rs189038 (T/C:locus-region);  rs654005 (G/A:locus-region);  rs679782 (A/G:locus-region);  rs682131 (C/G:exception);  rs652541 (T/C:exception);  rs597964 (A/T:locus-region);  rs641605 (G/A:locus-region);  rs609864 (T/A:locus-region);  rs673308 (A/T:exception);  rs1263936 (G/T:exception);  rs664143 (T/C:exception);  rs3017871 (G/T:locus-region);  rs676729 (A/G:exception);  rs620613 (T/C:exception);  rs599558 (G/A:exception);  rs668469 (C/A:locus-region);  rs592955 (A/C:locus-region);  rs681479 (C/A:exception);  rs1268879 (T/C:exception);  rs1263822 (C/A:locus-region);  rs634268 (A/G:exception);  rs665293 (A/G:locus-region);  rs1800054 (G/C:exception);  rs2066734 (AA/-:locus-region);  rs3092824 (A/G:mrna-utr);  rs650173 (A/G:exception);  rs599164 (G/A:locus-region);  rs676004 (T/G:exception);  rs190131 (G/A:exception);  rs1800735 (T/C:locus-region);  rs3092855 (C/A:exception);  rs593746 (A/G:locus-region);  rs588746 (T/G:exception);  rs186591 (T/G:exception);  rs364613 (T/G:exception);  rs374443 (G/C:exception);  rs227059 (T/C:exception);  rs582157 (A/T:exception);  rs170616 (C/A:locus-region);  rs1150198 (A/C:exception);  rs1784308 (T/C:exception);  rs608086 (A/G:exception);  rs668208 (C/A:locus-region);  rs662578 (T/C:exception);  rs425538 (C/A:exception);  rs1800727 (C/G:locus-region);  rs684542 (T/A:exception);  rs609429 (C/G:exception);  rs373759 (G/A:exception);  rs677068 (T/C:locus-region);  rs228590 (T/C:locus-region);  rs627418 (A/G:locus-region);  rs1657970 (A/C:exception);  rs1064815 (A/T:locus-region);  rs660429 (C/A:exception);  rs2515885 (T/A:exception);  rs1799760 (-/TT:exception);  rs661467 (T/C:locus-region);  rs609655 (C/T:exception);  rs2299653 (C/G:exception);  rs228588 (G/C:locus-region);  rs595747 (C/T:exception);  rs608875 (G/A:exception);  rs676570 (T/A:exception);  rs680113 (G/A:exception);  rs623860 (T/C:locus-region);  rs672964 (C/G:locus-region);  rs1800755 (C/A:locus-region);  rs659243 (G/A:exception);  rs642496 (T/A:locus-region);  rs613647 (C/A:exception);  rs2283264 (C/G:exception);  rs624366 (C/G:locus-region);  rs3092837 (T/G:locus-region);  rs396552 (C/G:exception);  rs1801673 (T/A:exception);  rs687889 (A/C:locus-region);  
EvidenceMutation in Prostate cancer

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Department of Urology
Universityof California, San Francisco