ELAC2 elaC ribonuclease Z 2

Gene ID: 60528, updated on 3-Jun-2026
Gene type: protein coding
Also known as: ELC2; HPC2; COXPD17

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Combined oxidative phosphorylation defect type 17 MedGen: C3809526OMIM: 615440GeneReviews: Not available	See labs
Prostate cancer, hereditary, 2 MedGen: C3539120OMIM: 614731GeneReviews: Not available	See labs

Genomic context

Location:: 17p12

Sequence:: Chromosome: 17; NC_000017.11 (12991612..13018027, complement)

Total number of exons:: 25

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ELAC2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
ELAC2 database
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes

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