Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
116028
Gene name Gene Name - the full gene name approved by the HGNC.
RecQ mediated genome instability 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RMI2
Synonyms (NCBI Gene) Gene synonyms aliases
BLAP18, C16orf75
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.13
Summary Summary of gene provided in NCBI Entrez Gene.
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]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT562773 hsa-miR-548at-5p PAR-CLIP 20371350
MIRT562772 hsa-miR-4795-5p PAR-CLIP 20371350
MIRT562771 hsa-miR-3190-3p PAR-CLIP 20371350
MIRT562770 hsa-miR-3616-5p PAR-CLIP 20371350
MIRT562769 hsa-miR-573 PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000724 Process Double-strand break repair via homologous recombination IDA 23543748
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 20711169, 20826341, 20826342, 28514442, 29997244, 33961781
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus NAS 23543748
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612426 28349 ENSG00000175643
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

Accession ID Position in sequence Description Type
PF16100 RMI2 21 143 RecQ-mediated genome instability protein 2 Family
Sequence
Sequence length 147
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Fanconi anemia pathway   HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Atopic asthma, Asthma in any disease N/A N/A GWAS
Biliary Cirrhosis Primary biliary cirrhosis N/A N/A GWAS
Bulimia Bulimia nervosa N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bloom Syndrome Associate 18923071, 21399624, 26556339, 27977684, 33500419, 35119917
Breast Neoplasms Stimulate 36533385
Carcinogenesis Associate 35552266
Carcinoma Hepatocellular Associate 34634948
Microsatellite Instability Associate 35552266
Neoplasms Associate 35552266, 36533385