Entity Details

Primary name RNZ2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BQ52
EntryNameRNZ2_HUMAN
FullNameZinc phosphodiesterase ELAC protein 2
TaxID9606
Evidenceevidence at protein level
Length826
SequenceStatuscomplete
DateCreated2004-01-16
DateModified2021-06-02

Ontological Relatives

GenesELAC2

GO terms

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GOName
GO:0003723 RNA binding
GO:0004549 tRNA-specific ribonuclease activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0042645 mitochondrial nucleoid
GO:0042780 tRNA 3'-end processing
GO:0042781 3'-tRNA processing endoribonuclease activity
GO:0046872 metal ion binding
GO:0072684 mitochondrial tRNA 3'-trailer cleavage, endonucleolytic
GO:0090646 mitochondrial tRNA processing

Subcellular Location

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Subcellular Location
Mitochondrion
Mitochondrion matrix
Nucleus

Domains

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DomainNameCategoryType
IPR001279 Metallo-beta-lactamaseDomainDomain
IPR027794 tRNase Z endonucleaseDomainDomain
IPR036866 Ribonuclease Z/Hydroxyacylglutathione hydrolase-likeFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614731 OMIMProstate cancer, hereditary, 2 (HPC2)A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. The disease is caused by variants affecting the gene represented in this entry.
615440 OMIMCombined oxidative phosphorylation deficiency 17 (COXPD17)An autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood. The disease is caused by variants affecting the gene represented in this entry.
176807 OMIMProstate cancer (PC)A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma.