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Tchem
BLM
Bloom syndrome protein

Protein Summary
Description
ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:9388193, PubMed:24816114, PubMed:25901030). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:21325134). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution (PubMed:25901030). Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction (PubMed:20639533, PubMed:24257077, PubMed:25901030). The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000355112
  • ENSP00000347232
  • ENSG00000197299

Symbol
  • RECQ2
  • RECQL3
  • BS
  • RECQ2
  • RECQL2
  • RECQL3
  • MGRISCE1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
1
molecular function
1
protein domain
1
protein complex
0.93
histone modification site profile
0.91


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 153   (req: < 5)
Gene RIFs: 172   (req: <= 3)
Antibodies: 434   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 153   (req: >= 5)
Gene RIFs: 172   (req: > 3)
Antibodies: 434   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 62
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 6
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Protein-Protein Interactions (317)
RMI2
Tbio
Novelty:  0.02516878
p_int:  0.999367937
p_ni:  0.000632063
Score:  0.982
Data Source:  BioPlex,Reactome,STRINGDB
MECP2
Tchem
Family:  TF
Novelty:  0.00051767
p_int:  0.982022764
p_ni:  0.017977236
Score:  0.302
Data Source:  BioPlex,STRINGDB
RPS16
Tbio
Novelty:  0.00261983
p_int:  0.978801575
p_ni:  0.021197256
p_wrong:  0.000001169
Data Source:  BioPlex
ZNF512
Tbio
Family:  TF
Novelty:  0.08783629
p_int:  0.978273267
p_ni:  0.021726733
Score:  0.153
Data Source:  BioPlex,STRINGDB
RPS13
Tbio
Novelty:  0.0019983
p_int:  0.951052177
p_ni:  0.048946366
p_wrong:  0.000001457
Data Source:  BioPlex
DGKZ
Tchem
Family:  Enzyme
Novelty:  0.01312044
p_int:  0.849329792
p_ni:  0.150670029
p_wrong:  1.79e-7
Data Source:  BioPlex
MAP7
Tbio
Novelty:  0.01976296
p_int:  0.817209393
p_ni:  0.18243586
p_wrong:  0.000354747
Data Source:  BioPlex
FANCM
Tbio
Novelty:  0.01122278
Score:  0.999
Data Source:  STRINGDB
RPA3
Tbio
Novelty:  0.00887858
Score:  0.999
Data Source:  Reactome,STRINGDB
CENPS
Tbio
Novelty:  0.0085893
Score:  0.999
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (38)
Cell Cycle (R-HSA-1640170)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 5 of 30
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cell Cycle
Reactome
Cell Cycle Checkpoints
Reactome
DNA Double-Strand Break Repair
Reactome
DNA Repair
Reactome
G2/M Checkpoints
Name
Explore in Pharos
Explore in Source
Cell Cycle
Cell Cycle Checkpoints
DNA Double-Strand Break Repair
DNA Repair
G2/M Checkpoints
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (74)
Find Similar Targets
Items per page:
10
1 – 10 of 23
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
UniProtKB
Disease Associations (null)
No disease associations found
GWAS Traits (56)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
8
7
5
1.1
98.6
diastolic blood pressure
4
2
4
95.2
birth weight
4
4
4
94.9
schizophrenia
9
4
2
1.1
94.1
4
4
2
1.1
93.6
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
5
1.1
98.6
diastolic blood pressure
4
95.2
birth weight
4
94.9
schizophrenia
2
1.1
94.1
2
1.1
93.6
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
Bloom syndrome RecQ like helicase
VGNC:7538
453650
Macaque
Bloom syndrome RecQ like helicase
703460
Mouse
MGI:1328362
12144
Rat
RGD:1308810
308755
Dog
Bloom syndrome RecQ like helicase
100685609
Species
Name
OMA
EggNOG
Inparanoid
Chimp
Bloom syndrome RecQ like helicase
Macaque
Bloom syndrome RecQ like helicase
Mouse
Rat
Dog
Bloom syndrome RecQ like helicase
Publication Statistics
PubMed Score 153.00
PubMed score by year
PubTator Score 102.99
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title