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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
  • RecQ-Mediated Genome Instability Protein 2 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. Among its related pathways are Homologous DNA Pairing and Strand Exchange 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. 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 , fRNAdb sequence ontologies 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
GH16I011344 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 596.6 +95.8 95754 1.8 PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 RMI2 LOC105371083 LOC105371084 ENSG00000261560 GSPT1 ZC3H7A SOCS1 HNRNPCP4 RSL1D1 PRM2
GH16I011250 Enhancer 0.8 ENCODE dbSUPER 550.8 +0.7 670 0.2 ZNF687 MAZ TFE3 SAP130 ZNF189 NR2F1 ARID4B MNT CTBP1 POLR2A LOC105371082 RMI2 SOCS1 GC16P010485
GH16I011252 Enhancer 0.5 ENCODE dbSUPER 550.8 +1.3 1345 0.1 POLR2A LOC105371082 RMI2 SOCS1 GC16P010485
GH16I011247 Enhancer 0.3 dbSUPER 563.7 -1.3 -1314 0.9 JUNB RMI2 LOC105371082 HNRNPCP4 GC16P010485
GH16I011251 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 33.4 +5.0 5010 6.8 HDGF SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B POLR2B SOCS1 RMI2 ENSG00000261560 RSL1D1 LOC105371084 GSPT1 HNRNPCP4 ZC3H7A LOC105371083 LOC105371082
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RMI2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for RMI2 Gene

Genomic Locations for RMI2 Gene
chr16:11,249,619-11,351,763
(GRCh38/hg38)
Size:
102,145 bases
Orientation:
Plus strand
chr16:11,343,476-11,445,619
(GRCh37/hg19)

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

ENSEMBL proteins:
REFSEQ proteins:

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:

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 --
genes like me logo Genes that share ontologies with RMI2: view
genes like me logo Genes that share phenotypes with RMI2: view

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 5
cytosol 5
extracellular 2
plasma membrane 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:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
GO:0006260 DNA replication TAS --
GO:0033045 regulation of sister chromatid segregation IMP 27977684
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

Unigene Clusters for RMI2 Gene

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

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, PaxDb, 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 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RMI2 33 34
  • 89.9 (n)
cow
(Bos Taurus)
Mammalia RMI2 33 34
  • 87.21 (n)
mouse
(Mus musculus)
Mammalia Rmi2 33 16 34
  • 84.93 (n)
rat
(Rattus norvegicus)
Mammalia Rmi2 33
  • 83.56 (n)
oppossum
(Monodelphis domestica)
Mammalia RMI2 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves RMI2 33 34
  • 71.61 (n)
lizard
(Anolis carolinensis)
Reptilia RMI2 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rmi2 33
  • 57.04 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC563218 33
  • 59.17 (n)
RMI2 34
  • 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)

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

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

Disorders for RMI2 Gene

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

No disorders were found for RMI2 Gene.

No data available for MalaCards 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 TR … Meetei AR (Genes & development 2008) 2 3 4 58
  2. Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome. (PMID: 27977684) Hudson DF … Kalitsis P (PLoS genetics 2016) 3 4 58
  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 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for RMI2 Gene

Sources for RMI2 Gene

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