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Results for the Protein: NP_000042
71902540
472
ATM

serine-protein kinase ATM [Homo sapiens]

Known Diseases associated with this Protein:
  ATAXIA-TELANGIECTASIA
  ATAXIA-TELANGIECTASIA VARIANT
  ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
  B-CELL NON-HODGKIN LYMPHOMA, SOMATIC
  BREAST CANCER, SUSCEPTIBILITY TO
  BREAST CANCER, SUSCEPTIBILITY TO, IN
  MANTLE CELL LYMPHOMA
  MANTLE CELL LYMPHOMA, SOMATIC
  T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC
  T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC, INCLUDED;;
14
9
14
9
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

TAN - pfam11640
FAT - pfam02259
PI3Kc_III - cd00896
PI4Kc_III - cd00893
PIKKc_ATM - cd05171
PIKKc_DNA-PK - cd05172
PIKKc_SMG1 - cd05170
PIKKc_TOR - cd05169
PI3Kc_like - cd00142
PIKKc - cd05164
TRRAP - cd05163
PIKKc_ATR - cd00892
PI4Kc_III_beta - cd05168
PI3Kc - smart00146
PI3_PI4_kinase - pfam00454
PI4Kc_III_alpha - cd05167
FATC - pfam02260


RefSeq Protein: NP_000042
   Default View:
















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PI3Kc_IIIcd008960.0008426203016
PI4Kc_IIIcd008930.000826683021
PI3Kc_likecd001427.9e-10926832955
PIKKc_ATRcd008926e-7726832962
PIKKccd051641.2e-16426832955
TRRAPcd051639.4e-0726832962
PIKKc_TORcd051695.4e-4826832962
PIKKc_ATMcd051714.6e-22426832962
PIKKc_SMG1cd051705.8e-3926832962
PIKKc_DNA-PKcd051721.1e-3626832962
PI4Kc_III_betacd051685.5e-0526993010
PI4Kc_III_alphacd051670.0007227553021
FATpfam022594.3e-7120962489
PI3_PI4_kinasepfam004543.7e-6027142962
FATCpfam022601.9e-1330243056
TANpfam116403.5e-485166
PI3Kcsmart001464.3e-10627132965

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1801516 Polymorphismp.ASP1853ASNN/A
dbSNPrs2234997 Polymorphismp.ASP126GLUN/A
dbSNPrs2235000 Polymorphismp.GLY514ASPN/A
dbSNPrs3092856 Polymorphismp.HIS1380TYRN/A
dbSNPrs1800058 Polymorphismp.LEU1420PHEN/A
dbSNPrs4988111 Polymorphismp.LEU2332PRON/A
dbSNPrs2227924 Polymorphismp.LEU546VALN/A
dbSNPrs3092857 Polymorphismp.MET1040VALN/A
dbSNPrs3218673 Polymorphismp.PRO872SERN/A
OMIM607585.0033 Diseasep.ALA2067ASPATAXIA-TELANGIECTASIA VARIANT
OMIM607585.0019 Diseasep.ARG2443TERATAXIA-TELANGIECTASIA
OMIM607585.0012 Diseasep.ARG3047TERATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
OMIM607585.0008 Diseasep.ARG35TERATAXIA-TELANGIECTASIA
OMIM607585.0009 Diseasep.ASP1682HIST-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC
OMIM607585.0024 Diseasep.GLN1361TERMANTLE CELL LYMPHOMA, SOMATIC
OMIM607585.0022 Diseasep.GLU2423GLYMANTLE CELL LYMPHOMA
OMIM607585.0011 Diseasep.LEU2656PROATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
OMIM607585.0010 Diseasep.MET1040VALB-CELL NON-HODGKIN LYMPHOMA, SOMATIC
OMIM607585.0006 Diseasep.PHE2827CYSATAXIA-TELANGIECTASIA VARIANT
OMIM607585.0032 Diseasep.SER49CYSBREAST CANCER, SUSCEPTIBILITY TO
OMIM607585.0025 Diseasep.SER1770TERT-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC
OMIM607585.0028 607585.0029 Diseasep.TYR2677CYSATAXIA-TELANGIECTASIA VARIANT
OMIM607585.0005 Diseasep.VAL2424GLYATAXIA-TELANGIECTASIA VARIANT||T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC, INCLUDED;;||BREAST CANCER, SUSCEPTIBILITY TO, IN



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