ELAC2 gene

elaC ribonuclease Z 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

From UniProt:

Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 17
  • Prostate cancer, hereditary, 2

From UniProt:

Combined 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. [MIM:615440]

Prostate 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. [MIM:614731]

Cytogenetic Location: 17p12, which is the short (p) arm of chromosome 17 at position 12

Molecular Location: base pairs 12,991,612 to 13,018,064 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 17p12, which is the short (p) arm of chromosome 17 at position 12
  • COXPD17
  • ELC2
  • HPC2