RMI2 (RecQ mediated genome instability 2)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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116028 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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RecQ mediated genome instability 2 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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RMI2 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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BLAP18, C16orf75 |
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Chromosome
Chromosome number
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16 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16p13.13 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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] |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | Q96E14 | ||||||||||
| Protein name | RecQ-mediated genome instability protein 2 (hRMI2) (BLM-associated protein of 18 kDa) (BLAP18) | ||||||||||
| Protein function | Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the sta | ||||||||||
| PDB | 3MXN , 3NBH , 4DAY | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 147 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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