RMI2 (RecQ mediated genome instability 2)

2014-11-01  

Identity

HGNC
LOCATION
16p13.13
LOCUSID
ALIAS
BLAP18,C16orf75
FUSION GENES

Other Information

Locus ID:

NCBI: 116028
MIM: 612426
HGNC: 28349
Ensembl: ENSG00000175643

Variants:

dbSNP: 116028
ClinVar: 116028
TCGA: ENSG00000175643
COSMIC: RMI2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175643ENST00000312499Q96E14
ENSG00000175643ENST00000572173Q96E14
ENSG00000175643ENST00000576027I3L2E0
ENSG00000175643ENST00000648619A0A3B3ISX4

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Fanconi anemia pathwayKEGGko03460
Fanconi anemia pathwayKEGGhsa03460
Bloom's syndrome complexKEGGhsa_M00414
Bloom's syndrome complexKEGGM00414
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
HDR through Homologous Recombination (HRR)REACTOMER-HSA-5685942
Homologous DNA Pairing and Strand ExchangeREACTOMER-HSA-5693579
Presynaptic phase of homologous DNA pairing and strand exchangeREACTOMER-HSA-5693616
Resolution of D-Loop StructuresREACTOMER-HSA-5693537
Resolution of D-loop Structures through Holliday Junction IntermediatesREACTOMER-HSA-5693568
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)REACTOMER-HSA-5693554
HDR through Single Strand Annealing (SSA)REACTOMER-HSA-5685938
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through PhosphorylationREACTOMER-HSA-6804756

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
206016762010Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.50
252000812014Multifaceted role of the Topo IIIα-RMI1-RMI2 complex and DNA2 in the BLM-dependent pathway of DNA break end resection.29
208263422010Crystal structures of RMI1 and RMI2, two OB-fold regulatory subunits of the BLM complex.25
279776842016Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.7
241081252013Monopolar spindle 1 (MPS1) protein-dependent phosphorylation of RecQ-mediated genome instability protein 2 (RMI2) at serine 112 is essential for BLM-Topo III α-RMI1-RMI2 (BTR) protein complex function upon spindle assembly checkpoint (SAC) activation during mitosis.3
310418172019Identification of EPHX2 and RMI2 as two novel key genes in cervical squamous cell carcinoma by an integrated bioinformatic analysis.3

Citation

Dessen P

RMI2 (RecQ mediated genome instability 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/55063/rmi2