ELAC2

Zinc phosphodiesterase ELAC protein 2 is an enzyme that in humans is encoded by the ELAC2 gene.^[5][6][7] on chromosome 17. It is an endonuclease thought to be involved in mitochondrial tRNA maturation,

ELAC2
Identifiers
Aliases	ELAC2, COXPD17, ELC2, HPC2, elaC ribonuclease Z 2
External IDs	OMIM: 605367; MGI: 1890496; HomoloGene: 6403; GeneCards: ELAC2; OMA:ELAC2 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p12 Start 12,991,612 bp[1] End 13,018,065 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 B3|11 40.42 cM Start 64,869,864 bp[2] End 64,892,895 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa apex of heart right adrenal cortex left adrenal gland sural nerve left adrenal cortex gastrocnemius muscle epithelium of colon left ventricle islet of Langerhans Top expressed in otic placode saccule otic vesicle perirhinal cortex entorhinal cortex spermatocyte epiblast zygote yolk sac CA3 field More reference expression data BioGPS More reference expression data
Gene ontology Molecular function endonuclease activity nuclease activity hydrolase activity metal ion binding tRNA-specific ribonuclease activity RNA binding 3'-tRNA processing endoribonuclease activity Cellular component mitochondrial matrix mitochondrial nucleoid mitochondrion nucleus nucleoplasm Biological process mitochondrial tRNA 3'-trailer cleavage, endonucleolytic mitochondrial tRNA processing tRNA 3'-end processing tRNA processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 60528 68626 Ensembl ENSG00000006744 ENSMUSG00000020549 UniProt Q9BQ52 Q80Y81 RefSeq (mRNA) NM_173717 NM_001165962 NM_018127 NM_023479 NM_001362982 NM_001362983 NM_001362984 RefSeq (protein) NP_001159434 NP_060597 NP_776065 NP_075968 NP_001349911 NP_001349912 NP_001349913 Location (UCSC) Chr 17: 12.99 – 13.02 Mb Chr 11: 64.87 – 64.89 Mb PubMed search [3] [4]
Wikidata
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Function

The ELAC2 gene encodes a protein that is 92 kDa in size and is localized to the mitochondrion^[8] and the nucleus. The ELAC2 protein is a zinc phosphodiesterase, which is known to show tRNA 3'-processing endonuclease activity inside the mitochondria. Mitochondria contain their own pool of tRNAs that are involved in the protein translation of 13 subunits of the respiratory chain that are encoded by the mitochondrial genome. ELAC2 functions in the maturation of tRNA by removing a 3'-trailer (extra 3' nucleotides) from tRNA precursors, generating 3' termini of tRNAs.

The reaction leaves a 3'-hydroxy group is left at the tRNA end, and a 5'-phosphoryl group at the cleaved, trailing end. The reaction requires zinc ions as co-factors.

Clinical significance

Variants of the ELAC2 gene are associated with prostate cancer, hereditary 2 (HPC2), a condition associated with familial cancer of the prostate.^[9][10] Multiple mutations including truncation and missense mutations are known to cause the disease from multiple families based on linkage analysis and positional cloning.^[10]

In addition, mutations in ELAC2 are known to cause combined oxidative phosphorylation deficiency 17 (COXPD17), a rare autosomal recessive disorder of mitochondrial functions characterized by severe hypertrophic cardiomyopathy.^[11]