Description: Homo sapiens RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae) (RMI2), mRNA. RefSeq Summary (NM_152308): 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]. Transcript (Including UTRs) Position: hg19 chr16:11,439,311-11,445,617 Size: 6,307 Total Exon Count: 2 Strand: + Coding Region Position: hg19 chr16:11,439,329-11,444,647 Size: 5,319 Coding Exon Count: 2
ID:RMI2_HUMAN DESCRIPTION: RecName: Full=RecQ-mediated genome instability protein 2; Short=hRMI2; AltName: Full=BLM-associated protein of 18 kDa; Short=BLAP18; FUNCTION: Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. The complex is therefore essential for the stability, localization, and function of complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress- induced nuclear foci and mitotic phosphorylation of BLM. SUBUNIT: Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM. SUBCELLULAR LOCATION: Nucleus. Note=Colocalizes with BLM at nuclear DNA repair foci. PTM: Phosphorylated during mitosis. SIMILARITY: Belongs to the RMI2 family. SIMILARITY: Contains 1 OB DNA-binding domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF16100 - RecQ-mediated genome instability protein 2
ModBase Predicted Comparative 3D Structure on Q96E14
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC039361 - Homo sapiens chromosome 16 open reading frame 75, mRNA (cDNA clone MGC:43647 IMAGE:5270594), complete cds. AK123764 - Homo sapiens cDNA FLJ41770 fis, clone IMR322007225. BC031016 - Homo sapiens chromosome 16 open reading frame 75, mRNA (cDNA clone MGC:32773 IMAGE:4659915), complete cds. BC022427 - Homo sapiens chromosome 16 open reading frame 75, mRNA (cDNA clone MGC:24665 IMAGE:4252688), complete cds. BC013040 - Homo sapiens chromosome 16 open reading frame 75, mRNA (cDNA clone MGC:4772 IMAGE:3542171), complete cds. KJ900033 - Synthetic construct Homo sapiens clone ccsbBroadEn_09427 RMI2 gene, encodes complete protein. DL492368 - Novel nucleic acids. DL490856 - Novel nucleic acids. JD227962 - Sequence 208986 from Patent EP1572962. JD182033 - Sequence 163057 from Patent EP1572962. JD423973 - Sequence 404997 from Patent EP1572962. JD235497 - Sequence 216521 from Patent EP1572962. JD284209 - Sequence 265233 from Patent EP1572962. JD411489 - Sequence 392513 from Patent EP1572962. JD037873 - Sequence 18897 from Patent EP1572962. JD300055 - Sequence 281079 from Patent EP1572962. JD551937 - Sequence 532961 from Patent EP1572962. JD221561 - Sequence 202585 from Patent EP1572962. JD295407 - Sequence 276431 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q96E14 (Reactome details) participates in the following event(s):
R-HSA-5686398 SPIDR binds BLM:TOP3A:RMI1:RMI2 R-HSA-5685985 EXO1 or DNA2 in complex with BLM or WRN binds initially resected DNA DSBs along with BRIP1 recruitment R-HSA-5686410 BLM mediates dissolution of double Holliday junction R-HSA-5686657 ERCC1:XPF cleaves flaps generated by SSA R-HSA-5693589 D-loop dissociation and strand annealing R-HSA-5693542 Association of RPA complexes with ssDNA at resected DNA DSBs R-HSA-5685994 Long-range resection of DNA DSBs by EXO1 or DNA2 R-HSA-5684887 Activation of CHEK1 at resected DNA DSBs R-HSA-5684882 CHEK1 is recruited to resected DNA DSBs R-HSA-5693561 RAD51 binds BRCA2 at resected DNA DSBs R-HSA-5693580 Association of RAD52 with the RPA complex at resected DNA DSBs R-HSA-5685156 ATR phosphorylates RPA2 R-HSA-5685341 BCDX2 complex stabilizes RAD51 filament R-HSA-5685838 CX3 complex binds D-loop structures R-HSA-5693620 D-loop formation mediated by PALB2, BRCA2 and RAD51 R-HSA-5684875 Binding of ATR:ATRIP to RPA at resected DNA DSBs R-HSA-5693564 Association of RAD51 with RAD52:DNA double-strand break ends R-HSA-5693593 D-loop extension by DNA polymerases R-HSA-5693584 Cleavage of Holliday junctions by GEN1 or SLX1A:SLX4:MUS81:EME1,(MUS81:EME2) R-HSA-5686440 MUS81:EME1,EME2 cleaves D-loop R-HSA-5685011 ATR activation at DNA DSBs R-HSA-5686642 RAD52 promotes single strand annealing at resected DNA DSBs R-HSA-6799332 ATR phosphorylates TP53 R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates R-HSA-5693537 Resolution of D-Loop Structures R-HSA-5693607 Processing of DNA double-strand break ends R-HSA-5685938 HDR through Single Strand Annealing (SSA) R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) R-HSA-5685942 HDR through Homologous Recombination (HRR) R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange R-HSA-5693579 Homologous DNA Pairing and Strand Exchange R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) R-HSA-5693538 Homology Directed Repair R-HSA-5693532 DNA Double-Strand Break Repair R-HSA-73894 DNA Repair R-HSA-69473 G2/M DNA damage checkpoint R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation R-HSA-69481 G2/M Checkpoints R-HSA-5633007 Regulation of TP53 Activity R-HSA-69620 Cell Cycle Checkpoints R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-1640170 Cell Cycle R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
