RMI2 Gene Summary [Human]
RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]
Details
| Type | Retained Intron |
| Official Symbol | RMI2 |
| Official Name | RecQ mediated genome instability 2 [Source:HGNC Symbol;Acc:HGNC:28349] |
| Ensembl ID | ENSG00000175643 |
| Bio databases IDs | |
| Aliases | RecQ mediated genome instability 2 |
| Synonyms | A630055G03Rik, BLAP18, C16orf75, Gm537, Gm929, MGC24665, RecQ mediated genome instability 2, RGD1563163 |
| 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 RMI2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- RecQ-mediated genome instability protein 2
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- dementia
- insulin-dependent diabetes mellitus
- organismal death
- multiple sclerosis
- lung adenocarcinoma
- lung adenocarcinoma formation
- leprosy
- inflammatory bowel disease
- systemic lupus erythematosus
role in cell
- expression in
- migration
- mitosis
- invasion by
- segregation
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
- cytosol
- nucleoplasm
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RMI2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- regulation of sister chromatid segregation
- negative regulation of double-strand break repair via homologous recombination
- DNA replication
- double-strand break repair via homologous recombination
- resolution of recombination intermediates
- maintenance of rDNA
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear speck
- cytosol
- RecQ helicase-Topo III complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding