ELAC2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ELAC2 |
| Official Name | elaC ribonuclease Z 2 [Source:HGNC Symbol;Acc:HGNC:14198] |
| Ensembl ID | ENSG00000006744 |
| Bio databases IDs | |
| Aliases | elaC ribonuclease Z 2, tRNase Z (long form) |
| Synonyms | 1110017O07Rik, COXPD17, D11Wsu80e, elaC ribonuclease Z 2, ELC2, HPC2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ELAC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Beta-lactamase superfamily domain
- tRNA-specific ribonuclease
- Metallo-beta-lactamase superfamily
- histidine-rich region
- endoribonuclease
- enzyme
- GTP binding motif, P-loop
- metallo-hydrolase-like_MBL-fold
- ribonuclease Z
- tRNase Z endonuclease
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- ovarian cancer
- hereditary disorder
- hereditary prostate cancer 2
- combined oxidative phosphorylation deficiency 17
- schizophrenia
- mitochondrial disorder
- preeclampsia
role in cell
- activation in
- growth
- generation in
- interaction in
- processing in
- G2/M phase transition
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Mitochondria
- cytosol
- mitochondrial matrix
- mitochondrial nucleoids
- nucleoplasm
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ELAC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tRNA 3'-end processing
- tRNA catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrial matrix
- mitochondrion
- cytosol
- mitochondrial nucleoid
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA binding
- tRNA-specific ribonuclease activity
- metal ion binding
- 3'-tRNA processing endoribonuclease activity
- endoribonuclease activity