Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q9BQ52
41017788

RNZ2_HUMAN RecName: Full=Zinc phosphodiesterase ELAC protein 2; AltName: Full=ElaC homolog protein 2; AltName: Full=Heredity prostate cancer protein 2; AltName: Full=Ribonuclease Z 2; Short=RNase Z 2; AltName: Full=tRNA 3 endonuclease 2; AltName: Full=tRNase Z 2; Flags: Precursor

Known Diseases associated with this Protein:
  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
  PROSTATE CANCER, HEREDITARY, 2
  PROSTATE CANCER, HEREDITARY, 2 (HPC2)
15
3
8
1
9
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

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



Default View:

ElaC - COG1234
Lactamase_B - pfam00753


Swiss-Prot Protein: Q9BQ52
Identical to: NP_060597
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ElaCCOG12344.1e-48480755
Lactamase_Bpfam007530.0001494702

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_017428Diseasep.ALA541THRProstate cancer, hereditary, 2 (HPC2)
Swiss-ProtVAR_017425Diseasep.ARG211GLNProstate cancer, hereditary, 2 (HPC2)
Swiss-ProtVAR_017431Diseasep.ARG781HISProstate cancer, hereditary, 2 (HPC2)
Swiss-ProtVAR_038211Polymorphismp.ASP436ASNN/A
Swiss-ProtVAR_017429Diseasep.GLU622VALProstate cancer, hereditary, 2 (HPC2)
Swiss-ProtVAR_017427Diseasep.GLY487ARGProstate cancer, hereditary, 2 (HPC2)
Swiss-ProtVAR_017432Diseasep.GLY806ARGProstate cancer, hereditary, 2 (HPC2)
dbSNPrs4792311 Diseasep.SER217LEUProstate cancer, hereditary, 2 (HPC2)
Swiss-ProtVAR_017430Polymorphismp.SER627LEUN/A
Swiss-ProtVAR_038210Polymorphismp.SER52PHEN/A
OMIM605367.0002 Diseasep.ALA541THRPROSTATE CANCER, HEREDITARY, 2
OMIM605367.0004 Diseasep.ARG781HISPROSTATE CANCER, HEREDITARY, 2
OMIM605367.0006 Diseasep.ARG211TERCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
OMIM605367.0005 Diseasep.GLU622VALPROSTATE CANCER, HEREDITARY, 2
OMIM605367.0009 Diseasep.LEU423PHECOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
OMIM605367.0008 Diseasep.PHE154LEUCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
OMIM605367.0001 Diseasep.SER217LEUPROSTATE CANCER, HEREDITARY, 2
OMIM605367.0007 Diseasep.THR520ILECOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258