| 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
|
| Category | - Mutation in Prostate cancer
|
| UniGene | Hs.194382 |
| OMIM | 208900 |
| Locus | 472 |
| Summary | The 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 | |
| Expression | | EST (163 ESTs, 86 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| adrenal gland (2/15) |  | 3/17521 |
| bone marrow (1/263) | | 2/38555 |
| brain (4/204) | | 4/362011 |
| colon (3/853) | | 3/165626 |
| eye (4/33) | | 8/93836 |
| germ cell (2/7) | | 2/57383 |
| head and neck (1/990) | | 1/79796 |
| heart (1/22) | | 1/55494 |
| intestine (1/4) | | 1/11528 |
| kidney (4/86) | | 6/132968 |
| liver (2/38) | | 6/46472 |
| lung (6/312) | | 16/245386 |
| muscle (1/21) | | 1/71297 |
| nervous (3/475) | | 5/43438 |
| oral cavity (1/18) | | 15/44567 |
| ovary (1/144) | | 1/81880 |
| pancreas (1/33) | | 1/117255 |
| parathyroid (1/4) | | 2/19377 |
| placenta (3/342) | | 7/157762 |
| prostate (5/291) |  | 7/109871 |
| stomach (2/312) | | 3/129930 |
| testis (4/171) | | 5/117531 |
| thymus (1/17) | | 1/5021 |
| uncharacterized tissue (25/1773) | | 45/713325 |
| uterus (6/212) | | 10/155110 |
|
| SAGE (6438135 tags, 114 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/1) | | 3/145569 |
| brain (16/19) | | 30/1468782 |
| colon (7/8) | | 25/965198 |
| eye (5/6) | | 20/1166281 |
| heart (1/1) | | 1/84357 |
| kidney (1/2) | | 1/41857 |
| mammary gland (7/19) | | 8/387928 |
| ovary (4/10) | | 5/190709 |
| pancreas (6/8) | | 9/263338 |
| prostate (6/13) | | 9/489450 |
| stomach (1/3) | | 1/66032 |
| uncharacterized tissue (14/22) | | 25/894889 |
| vascular (2/3) | | 5/273745 |
|
|
| SNP | rs1800701 (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); |
| Evidence | Mutation in Prostate cancer
|
