Gene Summary

Gene:RMI2; RecQ mediated genome instability 2
Aliases: BLAP18, C16orf75
Summary: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]
Databases:OMIM, VEGA, HGNC, Ensembl, GeneCard, Gene
Protein:recQ-mediated genome instability protein 2
Source:NCBIAccessed: 21 August, 2015

Cancer Overview

Research Indicators

Publications Per Year (1990-2015)
Graph generated 21 August 2015 using data from PubMed using criteria.

Literature Analysis

Mouse over the terms for more detail; many indicate links which you can click for dedicated pages about the topic.

  • Endonucleases
  • Amino Acid Sequence
  • Sequence Homology
  • SLX4
  • Age of Onset
  • RMI1
  • Recombinant Proteins
  • Bloom Syndrome
  • Chromosomes, Human
  • Computational Biology
  • Nuclear Proteins
  • Chromosome 16
  • Protein Folding
  • DNA-Binding Proteins
  • Chromatin
  • Hydroxycarbamide
  • Phosphorylation
  • Chromatography, Affinity
  • BLM
  • Genomic Instability
  • DNA Repair
  • Oligonucleotides
  • siRNA
  • Carrier Proteins
  • Chickens
  • HeLa Cells
  • Sister Chromatid Exchange
  • Holliday Junction Resolvases
  • Chromatids
  • RecQ Helicases
  • Cultured Cells
  • GEN1
  • Bone Cancer
  • Fibrosarcoma
  • DNA, Cruciform
  • Recombinases
  • Cell Nucleus
  • DNA topoisomerase III
  • MUS81
  • Phenotype
Tag cloud generated 21 August, 2015 using data from PubMed, MeSH and CancerIndex

Specific Cancers (2)

Data table showing topics related to specific cancers and associated disorders. Scope includes mutations and abnormal protein expression.

Note: list is not exhaustive. Number of papers are based on searches of PubMed (click on topic title for arbitrary criteria used).

Latest Publications: RMI2 (cancer-related)

Singh TR, Ali AM, Busygina V, et al.
BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome.
Genes Dev. 2008; 22(20):2856-68 [PubMed] Free Access to Full Article Related Publications
Bloom Syndrome is an autosomal recessive cancer-prone disorder caused by mutations in the BLM gene. BLM encodes a DNA helicase of the RECQ family, and associates with Topo IIIalpha and BLAP75/RMI1 (BLAP for BLM-associated polypeptide/RecQ-mediated genome instability) to form the BTB (BLM-Topo IIIalpha-BLAP75/RMI1) complex. This complex can resolve the double Holliday junction (dHJ), a DNA intermediate generated during homologous recombination, to yield noncrossover recombinants exclusively. This attribute of the BTB complex likely serves to prevent chromosomal aberrations and rearrangements. Here we report the isolation and characterization of a novel member of the BTB complex termed BLAP18/RMI2. BLAP18/RMI2 contains a putative OB-fold domain, and several lines of evidence suggest that it is essential for BTB complex function. First, the majority of BLAP18/RMI2 exists in complex with Topo IIIalpha and BLAP75/RMI1. Second, depletion of BLAP18/RMI2 results in the destabilization of the BTB complex. Third, BLAP18/RMI2-depleted cells show spontaneous chromosomal breaks and are sensitive to methyl methanesulfonate treatment. Fourth, BLAP18/RMI2 is required to target BLM to chromatin and for the assembly of BLM foci upon hydroxyurea treatment. Finally, BLAP18/RMI2 stimulates the dHJ resolution capability of the BTB complex. Together, these results establish BLAP18/RMI2 as an essential member of the BTB dHJ dissolvasome that is required for the maintenance of a stable genome.

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Cite this page: Cotterill SJ. C16orf75, Cancer Genetics Web: http://www.cancer-genetics.org/C16orf75.htm Accessed:

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This page in Cancer Genetics Web by Simon Cotterill is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
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