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Aliases for RMI2 Gene

Aliases for RMI2 Gene

  • RecQ Mediated Genome Instability 2 2 3 5
  • BLM-Associated Protein Of 18 KDa 3 4
  • C16orf75 3 4
  • BLAP18 3 4
  • RMI2, RecQ Mediated Genome Instability 2, Homolog (S. Cerevisiae) 2
  • RMI2, RecQ Mediated Genome Instability 2, Homolog 3
  • Chromosome 16 Open Reading Frame 75 2
  • HRMI2 4

External Ids for RMI2 Gene

Previous HGNC Symbols for RMI2 Gene

  • C16orf75

Previous GeneCards Identifiers for RMI2 Gene

  • GC16P011411

Summaries for RMI2 Gene

Entrez Gene Summary for RMI2 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]

GeneCards Summary for RMI2 Gene

RMI2 (RecQ Mediated Genome Instability 2) is a Protein Coding gene. Diseases associated with RMI2 include Bloom Syndrome. Among its related pathways are Cell Cycle Checkpoints and Gene Expression.

UniProtKB/Swiss-Prot for RMI2 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RMI2 Gene

Genomics for RMI2 Gene

Regulatory Elements for RMI2 Gene

Enhancers for RMI2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RMI2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RMI2 Gene

Chromosome:
16
Start:
11,249,619 bp from pter
End:
11,351,763 bp from pter
Size:
102,145 bases
Orientation:
Plus strand

Genomic View for RMI2 Gene

Genes around RMI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RMI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RMI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RMI2 Gene

Proteins for RMI2 Gene

  • Protein details for RMI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96E14-RMI2_HUMAN
    Recommended name:
    RecQ-mediated genome instability protein 2
    Protein Accession:
    Q96E14
    Secondary Accessions:
    • B3KVZ6
    • Q49AE2
    • Q8TBL0

    Protein attributes for RMI2 Gene

    Size:
    147 amino acids
    Molecular mass:
    15865 Da
    Quaternary structure:
    • Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM.

    Three dimensional structures from OCA and Proteopedia for RMI2 Gene

    Alternative splice isoforms for RMI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RMI2 Gene

Proteomics data for RMI2 Gene at MOPED

Post-translational modifications for RMI2 Gene

Other Protein References for RMI2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RMI2 Gene

Domains & Families for RMI2 Gene

Protein Domains for RMI2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RMI2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96E14

UniProtKB/Swiss-Prot:

RMI2_HUMAN :
  • Contains 1 OB DNA-binding domain.
  • Belongs to the RMI2 family.
Domain:
  • Contains 1 OB DNA-binding domain.
Family:
  • Belongs to the RMI2 family.
genes like me logo Genes that share domains with RMI2: view

No data available for Gene Families for RMI2 Gene

Function for RMI2 Gene

Molecular function for RMI2 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with RMI2: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RMI2 Gene

Localization for RMI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RMI2 Gene

Nucleus. Note=Colocalizes with BLM at nuclear DNA repair foci.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RMI2 Gene COMPARTMENTS Subcellular localization image for RMI2 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RMI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with RMI2: view

Pathways & Interactions for RMI2 Gene

genes like me logo Genes that share pathways with RMI2: view

Pathways by source for RMI2 Gene

Gene Ontology (GO) - Biological Process for RMI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
GO:0006260 DNA replication IEA,TAS --
GO:0006302 double-strand break repair TAS --
GO:0045003 double-strand break repair via synthesis-dependent strand annealing TAS --
genes like me logo Genes that share ontologies with RMI2: view

No data available for SIGNOR curated interactions for RMI2 Gene

Drugs & Compounds for RMI2 Gene

No Compound Related Data Available

Transcripts for RMI2 Gene

Unigene Clusters for RMI2 Gene

RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RMI2 Gene

No ASD Table

Relevant External Links for RMI2 Gene

GeneLoc Exon Structure for
RMI2
ECgene alternative splicing isoforms for
RMI2

Expression for RMI2 Gene

mRNA expression in normal human tissues for RMI2 Gene

mRNA differential expression in normal tissues according to GTEx for RMI2 Gene

This gene is overexpressed in Testis (x4.7).

Protein differential expression in normal tissues from HIPED for RMI2 Gene

This gene is overexpressed in Fetal ovary (61.3) and Fetal heart (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RMI2 Gene



SOURCE GeneReport for Unigene cluster for RMI2 Gene Hs.347524

genes like me logo Genes that share expression patterns with RMI2: view

Protein tissue co-expression partners for RMI2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for RMI2 Gene

Orthologs for RMI2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RMI2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RMI2 35
  • 87.21 (n)
  • 84.93 (a)
RMI2 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RMI2 35
  • 89.9 (n)
  • 90.15 (a)
RMI2 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rmi2 35
  • 84.93 (n)
  • 84.93 (a)
Rmi2 16
Rmi2 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rmi2 35
  • 83.56 (n)
  • 86.3 (a)
oppossum
(Monodelphis domestica)
Mammalia RMI2 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RMI2 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves RMI2 35
  • 71.61 (n)
  • 69.53 (a)
RMI2 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RMI2 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rmi2 35
  • 57.04 (n)
  • 52.82 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC563218 35
  • 59.17 (n)
  • 55.04 (a)
RMI2 36
  • 47 (a)
OneToOne
Species with no ortholog for RMI2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RMI2 Gene

ENSEMBL:
Gene Tree for RMI2 (if available)
TreeFam:
Gene Tree for RMI2 (if available)

Paralogs for RMI2 Gene

No data available for Paralogs for RMI2 Gene

Variants for RMI2 Gene

Variation tolerance for RMI2 Gene

Gene Damage Index Score: 0.44; 9.64% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for RMI2 Gene

Disorders for RMI2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RMI2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bloom syndrome
  • bloom-torre-machacek syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RMI2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RMI2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RMI2
genes like me logo Genes that share disorders with RMI2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RMI2 Gene

Publications for RMI2 Gene

  1. BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome. (PMID: 18923083) Singh T.R. … Meetei A.R. (Genes Dev. 2008) 2 3 4 67
  2. Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. (PMID: 20826341) Hoadley K.A. … Keck J.L. (Structure 2010) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Multifaceted role of the Topo IIII+-RMI1-RMI2 complex and DNA2 in the BLM-dependent pathway of DNA break end resection. (PMID: 25200081) Daley J.M. … Sung P. (Nucleic Acids Res. 2014) 3
  5. Notch3 interactome analysis identified WWP2 as a negative regulator of Notch3 signaling in ovarian cancer. (PMID: 25356737) Jung J.G. … Wang T.L. (PLoS Genet. 2014) 3

Products for RMI2 Gene

Sources for RMI2 Gene

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