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] See more...

Aliases for RMI2 Gene

Aliases for RMI2 Gene

  • RecQ Mediated Genome Instability 2 2 3 5
  • RecQ-Mediated Genome Instability Protein 2 3 4
  • 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
  • GC16P011343

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 Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 and Malignant Ovarian Cyst. Among its related pathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity.

UniProtKB/Swiss-Prot Summary for RMI2 Gene

  • 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 stability, localization, and function of BLM, TOP3A, and 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.

Additional gene information for RMI2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RMI2 Gene

Genomics for RMI2 Gene

GeneHancer (GH) Regulatory Elements for RMI2 Gene

Promoters and enhancers for RMI2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J011306 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 786.6 +62.3 62269 10.7 ZNF24 SP1 ZBTB40 LCORL MLX RBPJ TCF7L2 NR2F1 NR2F6 ATF1 RMI2 NUBP1 GSPT1 COX6CP1 ENSG00000263307 CIITA ENSG00000263080 SOCS1 ENSG00000199668 RF01061-066
GH16J011344 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 796.6 +96.1 96082 3 E2F8 ZBTB40 SP1 RBPJ POLR2A FOS CREB1 MIXL1 ZNF362 MYC RMI2 ENSG00000263080 LOC105371083 RSL1D1 PRM2 ENSG00000263307 NPIPB2 GSPT1 ZC3H7A ENSG00000261560
GH16J011250 Enhancer 1 Ensembl ENCODE dbSUPER 750.6 +0.9 936 0.9 RBPJ MNT POLR2A IKZF2 RCOR2 CTBP1 ZBTB26 SAP130 ZNF792 NR2F1 LOC105371082 RMI2 NPIPB2 SOCS1
GH16J011249 Promoter/Enhancer 0.8 EPDnew dbSUPER 750.6 0.0 -11 0.1 ATF7 CREB1 ZNF623 ATF2 LOC105371082 RMI2
GH16J011247 Enhancer 0.3 dbSUPER 763.6 -1.3 -1314 0.9 JUNB RMI2 LOC105371082 HNRNPCP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RMI2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for RMI2 Gene

Genomic Locations for RMI2 Gene
chr16:11,249,619-11,381,662
(GRCh38/hg38)
Size:
132,044 bases
Orientation:
Plus strand
chr16:11,343,476-11,445,619
(GRCh37/hg19)
Size:
102,144 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

Post-translational modifications for RMI2 Gene

Other Protein References for RMI2 Gene

No data available for DME Specific Peptides for RMI2 Gene

Domains & Families for RMI2 Gene

Gene Families for RMI2 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RMI2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RMI2 Gene

GenScript: Design optimal peptide antigens:
  • BLM-associated protein of 18 kDa (RMI2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96E14

UniProtKB/Swiss-Prot:

RMI2_HUMAN :
  • Belongs to the RMI2 family.
Family:
  • Belongs to the RMI2 family.
genes like me logo Genes that share domains with RMI2: view

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. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localization, and function of BLM, TOP3A, and 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.

Phenotypes From GWAS Catalog for RMI2 Gene

Gene Ontology (GO) - Molecular Function for RMI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 20711169
genes like me logo Genes that share ontologies with RMI2: view
genes like me logo Genes that share phenotypes with RMI2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RMI2 gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RMI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
GO:0016607 nuclear speck 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:0006260 DNA replication TAS --
GO:0006281 DNA repair IBA 21873635
GO:0033045 regulation of sister chromatid segregation IMP 27977684
GO:0043007 maintenance of rDNA IBA 21873635
GO:1901796 regulation of signal transduction by p53 class mediator 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

mRNA/cDNA for RMI2 Gene

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RMI2 Gene



Protein tissue co-expression partners for RMI2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RMI2 Gene:

RMI2

SOURCE GeneReport for Unigene cluster for RMI2 Gene:

Hs.347524

Evidence on tissue expression from TISSUES for RMI2 Gene

  • Skin(4.2)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with RMI2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia RMI2 33
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RMI2 33 32
  • 89.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RMI2 33 32
  • 87.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rmi2 17 33 32
  • 84.93 (n)
rat
(Rattus norvegicus)
Mammalia Rmi2 32
  • 83.56 (n)
oppossum
(Monodelphis domestica)
Mammalia RMI2 33
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves RMI2 33 32
  • 71.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RMI2 33
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rmi2 32
  • 57.04 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC563218 32
  • 59.17 (n)
RMI2 33
  • 47 (a)
OneToOne
Species where no ortholog for RMI2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RMI2: view image

Paralogs for RMI2 Gene

No data available for Paralogs for RMI2 Gene

Variants for RMI2 Gene

Sequence variations from dbSNP and Humsavar for RMI2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000137712 -- 11,349,757(+) A/G intron_variant
rs1000275208 -- 11,349,986(+) G/T intron_variant
rs1000505238 -- 11,350,575(+) G/A intron_variant
rs1001009019 -- 11,346,731(+) C/G intron_variant
rs1001050131 -- 11,345,974(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RMI2 Gene

Variant ID Type Subtype PubMed ID
dgv2728n100 CNV gain 25217958
nsv1040428 CNV gain 25217958

Variation tolerance for RMI2 Gene

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

Additional Variant Information for RMI2 Gene

Human Gene Mutation Database (HGMD)
RMI2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RMI2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RMI2 Gene

Disorders for RMI2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RMI2 Gene - From: HGMD, Orphanet, and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search RMI2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RMI2_HUMAN
  • Note=A homozygous deletion of RMI2 has been found in a family with a Bloom-like syndrome and is probable responsible for the phenotype. Patients manifest depigmented skin lesions, multiple cafe-au-lait macules, and growth deficiency. Cells from affected individuals show a high rate of sister chromatid exchange and increased chromosomal breaks. {ECO:0000269 PubMed:27977684}.

Additional Disease Information for RMI2

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

No data available for 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 TR … Meetei AR (Genes & development 2008) 2 3 4 56
  2. Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome. (PMID: 27977684) Hudson DF … Kalitsis P (PLoS genetics 2016) 3 4 56
  3. Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. (PMID: 20826341) Hoadley KA … Keck JL (Structure (London, England : 1993) 2010) 2 3 56
  4. RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability. (PMID: 18923082) Xu D … Wang W (Genes & development 2008) 3 4 56
  5. DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity. (PMID: 29656893) Gupta R … Choudhary C (Cell 2018) 3 56

Products for RMI2 Gene

Sources for RMI2 Gene