RMI2: A Key Component of the RMI Complex in Genome Stability
Essential for homologous recombination and DNA repair, RMI2 is implicated in Bloom syndrome and cancer susceptibility.
Gene Information Card
| Symbol | RMI2 |
|---|---|
| Full Name | RecQ mediated genome instability 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 116028 ncbi.nlm.nih.gov/gene/116028 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q96E14 |
| OMIM ID | 612426 |
| HGNC ID | 28341 |
| Aliases | BLAP18, C16orf75, FAAP24-like, RMI2 |
Description
RMI2 (RecQ mediated genome instability 2) encodes a protein that forms a heterodimer with RMI1, which together with TOP3A and BLM constitutes the RMI complex. This complex is essential for the dissolution of double Holliday junctions during homologous recombination, thereby maintaining genome stability. RMI2 is also involved in the Fanconi anemia pathway and is required for the stability and function of the BLM helicase. Mutations in RMI2 are associated with Bloom syndrome and increased cancer risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bloom syndrome | Loss-of-function mutations in RMI2 disrupt the RMI complex, impairing Holliday junction dissolution and leading to genomic instability, sister chromatid exchanges, and predisposition to cancer. | OMIM #612426; NCBI Gene; ClinVar |
| Breast cancer | RMI2 variants may contribute to homologous recombination deficiency, increasing susceptibility to breast cancer. | COSMIC; ClinVar |
| Fanconi anemia | RMI2 interacts with FANCM and is implicated in the Fanconi anemia pathway; deficiency may contribute to FA-like phenotypes. | UniProt; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Medium |
| Lymph node | 7.1 | Medium |
| Spleen | 6.9 | Medium |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| K562 | 9.8 | Leukemia cell line |
| HEK293 | 8.5 | Embryonic kidney cell line |
| MCF7 | 7.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.157C>T (p.Arg53*) | Nonsense | Rare | Premature stop, loss of function |
| c.292_293del (p.Leu98Valfs*2) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported RMI2 mutations are loss-of-function, leading to impaired RMI complex formation and defective homologous recombination.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RMI2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for RMI2.
View complete mutation data：
Gene Ontology (GO)
| • double-strand break repair via homologous recombination (GO:0000724) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) | • replication fork protection (GO:0048478) |
| • DNA duplex unwinding (GO:0032508) |
Pathways
• Homologous recombination (Reactome: R-HSA-5693571)
• Resolution of D-loop structures (Reactome: R-HSA-5693568)
• Fanconi anemia pathway (KEGG: hsa03460)
Protein Summary
RMI2 is a 148-amino acid protein that contains an OB-fold domain and interacts with RMI1 via its C-terminal region. It localizes to the nucleus and is a component of the BLM-TOP3A-RMI1-RMI2 (BTR) complex. RMI2 stabilizes the complex and is required for efficient dissolution of double Holliday junctions. It also participates in the Fanconi anemia pathway through interaction with FANCM. Loss of RMI2 leads to genomic instability, increased sister chromatid exchanges, and sensitivity to DNA damaging agents.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RMI2 Knockout HEK293 Cell Line | EDJ-KQ3189 | Human | 116028 | Details Get a Quote |
| RMI2 Knockout HCT 116 Cell Line | EDJ-KQ23249 | Human | 116028 | Details Get a Quote |
| RMI2 Knockout A-549 Cell Line | EDJ-KQ24631 | Human | 116028 | Details Get a Quote |
| RMI2 Knockout HeLa Cell Line | EDJ-KQ24633 | Human | 116028 | Details Get a Quote |
