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Aliases for BLM Gene

Aliases for BLM Gene

  • Bloom Syndrome RecQ Like Helicase 2 3 5
  • DNA Helicase, RecQ-Like Type 2 3 4
  • RecQ Protein-Like 3 3 4
  • RECQL3 3 4
  • RECQ2 3 4
  • Bloom Syndrome, RecQ Helicase-Like 3
  • Bloom Syndrome Protein 3
  • Bloom Syndrome 2
  • EC 4
  • EC 3.6.1 61
  • RECQL2 3
  • BS 3

External Ids for BLM Gene

Previous GeneCards Identifiers for BLM Gene

  • GC15P087894
  • GC15P085101
  • GC15P088847
  • GC15P088990
  • GC15P089061
  • GC15P091260
  • GC15P067371

Summaries for BLM Gene

Entrez Gene Summary for BLM Gene

  • 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. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]

GeneCards Summary for BLM Gene

BLM (Bloom Syndrome RecQ Like Helicase) is a Protein Coding gene. Diseases associated with BLM include Bloom Syndrome and Werner Syndrome. Among its related pathways are Integrated Breast Cancer Pathway and Meiosis. GO annotations related to this gene include nucleic acid binding and ATPase activity. An important paralog of this gene is WRN.

UniProtKB/Swiss-Prot for BLM Gene

  • Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3-5 direction. 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. Negatively regulates sister chromatid exchange (SCE).

Gene Wiki entry for BLM Gene

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

Genomics for BLM Gene

Regulatory Elements for BLM Gene

Enhancers for BLM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F090813 1.3 FANTOM5 Ensembl ENCODE 21.1 +99.5 99518 7.1 CTCF PKNOX1 KLF17 EBF1 RAD21 ZIC2 ZFHX2 POLR2A ZNF600 CHD2 BLM FES MAN2A2 ENSG00000200677 CRTC3 GC15M090794 PIR44829
GH15F090835 1.5 FANTOM5 Ensembl ENCODE 18 +121.7 121742 7.3 ATF1 ARNT YY1 GTF3C2 GLIS2 ELK1 GATA2 FOS NCOA1 REST FES BLM FURIN LOC101926911 LOC100631255 UNC45A MAN2A2 HDDC3 ENSG00000200677 ENSG00000259314
GH15F090812 0.2 Ensembl 16.1 +95.3 95274 1.2 FES BLM MAN2A2 FURIN ENSG00000200677 LOC101926911 CRTC3 GABARAPL3 PIR44829 GC15M090790
GH15F090807 1 Ensembl ENCODE 15.8 +90.7 90729 1.9 REST BLM FURIN FES ENSG00000200677 LOC101926911 MAN2A2 CRTC3 GABARAPL3 PIR44829 GC15M090790
GH15F090656 0.5 Ensembl ENCODE 12.2 -57.6 -57576 5.9 HDGF PKNOX1 ATF1 ARNT WRNIP1 ZNF133 GATA2 FOS ZNF263 JUNB BLM FES MAN2A2 CRTC3 ENSG00000200677 ZNF774 GABARAPL3 IQGAP1 LINC01585 GC15M090654
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BLM on UCSC Golden Path with GeneCards custom track

Promoters for BLM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000239158 173 2600 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 CBX5 ZNF207 FOS ZNF263

Genomic Location for BLM Gene

90,717,327 bp from pter
90,816,165 bp from pter
98,839 bases
Plus strand

Genomic View for BLM Gene

Genes around BLM on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BLM Gene

Proteins for BLM Gene

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

    Protein Symbol:
    Recommended name:
    Bloom syndrome protein
    Protein Accession:
    Secondary Accessions:
    • Q52M96

    Protein attributes for BLM Gene

    1417 amino acids
    Molecular mass:
    159000 Da
    Quaternary structure:
    • Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ubiquitinated FANCD2. Interacts with RMI complex. Interacts directly with RMI1 (via N-terminal region) component of RMI complex. Interacts with SUPV3L1. Found in a complex, at least composed of BLM, RAD51 and SPIDR; the complex formation is mediated by SPIDR. Interacts with TOP3A (via N-terminal region). Interacts with SPIDR (via C-terminal region); the interaction is direct and required to target BLM to sites of DNA damage.

    Three dimensional structures from OCA and Proteopedia for BLM Gene

neXtProt entry for BLM Gene

Selected DME Specific Peptides for BLM Gene


Post-translational modifications for BLM Gene

  • Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex, as well as the presence of RMI1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for BLM Gene

Gene Families for BLM Gene

Suggested Antigen Peptide Sequences for BLM Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 helicase ATP-binding domain.
  • Belongs to the helicase family. RecQ subfamily.
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
  • Contains 1 HRDC domain.
  • Belongs to the helicase family. RecQ subfamily.
genes like me logo Genes that share domains with BLM: view

Function for BLM Gene

Molecular function for BLM Gene

GENATLAS Biochemistry:
DNA helicase,ATP dependent,expressed in thymus,testis,colocalizing with RPA heterotrimeric ss DNA binding protein in meiotic prophase nuclei of spermatocytes,stimulated by single and DNA double strand breaks,upregulated at the G1-S stage of the cell cycle,homologous to yeast Sgs1,E coli RecQ,involved in DNA repair and maintenance of genome integrity,RecQl family
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3-5 direction. 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. Negatively regulates sister chromatid exchange (SCE).

Enzyme Numbers (IUBMB) for BLM Gene

Gene Ontology (GO) - Molecular Function for BLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000405 bubble DNA binding IDA 11433031
GO:0002039 p53 binding IPI 11781842
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with BLM: view
genes like me logo Genes that share phenotypes with BLM: view

Human Phenotype Ontology for BLM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BLM Gene

MGI Knock Outs for BLM:

Animal Model Products

miRNA for BLM Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for BLM Gene

Localization for BLM Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLM Gene

Nucleus. Note=Together with SPIDR, is redistributed in discrete nuclear DNA damage-induced foci following hydroxyurea (HU) or camptothecin (CPT) treatment. Accumulated at sites of DNA damage in a RMI complex- and SPIDR-dependent manner.

Subcellular locations from

Jensen Localization Image for BLM Gene COMPARTMENTS Subcellular localization image for BLM gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for BLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 23509288
GO:0000781 colocalizes_with chromosome, telomeric region IDA 10779560
GO:0000800 lateral element IDA 10728666
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA,IDA 9388480
genes like me logo Genes that share ontologies with BLM: view

Pathways & Interactions for BLM Gene

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

Pathways by source for BLM Gene

2 KEGG pathways for BLM Gene
1 GeneGo (Thomson Reuters) pathway for BLM Gene
1 Qiagen pathway for BLM Gene

SIGNOR curated interactions for BLM Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity IMP 15604258
GO:0000724 double-strand break repair via homologous recombination NAS 11309417
GO:0000729 DNA double-strand break processing IDA 21325134
GO:0000731 DNA synthesis involved in DNA repair TAS --
GO:0000732 strand displacement TAS --
genes like me logo Genes that share ontologies with BLM: view

Drugs & Compounds for BLM Gene

(29) Drugs for BLM Gene - From: ClinicalTrials, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bleomycin Approved Pharma 153
Dacarbazine Approved, Investigational Pharma 674
Doxil Approved June 1999 Pharma DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors 1714
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1714
Lenograstim Approved Pharma 1202

(2) Additional Compounds for BLM Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(1) ApexBio Compounds for BLM Gene

Compound Action Cas Number
ML216 BLM helicase inhibitor 1430213-30-1
genes like me logo Genes that share compounds with BLM: view

Transcripts for BLM Gene

Unigene Clusters for BLM Gene

Bloom syndrome, RecQ helicase-like:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - - -
SP2: -

ExUns: 24 ^ 25a · 25b

Relevant External Links for BLM Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BLM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BLM Gene

Protein differential expression in normal tissues from HIPED for BLM Gene

This gene is overexpressed in Lymph node (23.3) and Uterus (9.1).

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

Protein tissue co-expression partners for BLM Gene

NURSA nuclear receptor signaling pathways regulating expression of BLM Gene:


SOURCE GeneReport for Unigene cluster for BLM Gene:

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

Primer Products

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

Orthologs for BLM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BLM Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BLM 34 35
  • 99.22 (n)
(Canis familiaris)
Mammalia BLM 34 35
  • 86.94 (n)
(Bos Taurus)
Mammalia BLM 34 35
  • 86.15 (n)
(Ornithorhynchus anatinus)
Mammalia BLM 35
  • 83 (a)
(Mus musculus)
Mammalia Blm 34 16 35
  • 82.25 (n)
(Rattus norvegicus)
Mammalia Blm 34
  • 80.7 (n)
(Monodelphis domestica)
Mammalia BLM 35
  • 66 (a)
(Gallus gallus)
Aves BLM 34 35
  • 59.66 (n)
(Anolis carolinensis)
Reptilia BLM 35
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia blm 34
  • 67.86 (n)
Str.4549 34
African clawed frog
(Xenopus laevis)
Amphibia blm-A 34
(Danio rerio)
Actinopterygii blm 34 35
  • 67.26 (n)
Dr.13183 34
fruit fly
(Drosophila melanogaster)
Insecta mus309 36 35
  • 38 (a)
(Caenorhabditis elegans)
Secernentea him-6 36 35
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGS1 35
  • 22 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1380 34
Species where no ortholog for BLM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for BLM Gene

Gene Tree for BLM (if available)
Gene Tree for BLM (if available)

Paralogs for BLM Gene

Paralogs for BLM Gene

(1) SIMAP similar genes for BLM Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with BLM: view

Variants for BLM Gene

Sequence variations from dbSNP and Humsavar for BLM Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs137853152 Bloom syndrome (BLM) [MIM:210900] 90,769,559(+) CCTGA(C/T)TCAGC reference, missense
rs137853153 Bloom syndrome (BLM) [MIM:210900], Pathogenic 90,794,254(+) GGAAT(G/T)CAGGA reference, missense
rs367543029 Bloom syndrome (BLM) [MIM:210900], Pathogenic 90,794,311(+) TTTTT(C/G)TAAGA reference, missense
rs747281324 Bloom syndrome (BLM) [MIM:210900], Likely pathogenic 90,763,098(+) TAATC(A/G)GCTAG reference, missense
rs758311406 Bloom syndrome (BLM) [MIM:210900] 90,784,960(+) AGAAT(A/G)TGACA reference, missense

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

Variant ID Type Subtype PubMed ID
esv2673999 CNV deletion 23128226
esv3581815 CNV loss 25503493
esv3637233 CNV loss 21293372
esv3637234 CNV loss 21293372
nsv1045042 CNV gain 25217958
nsv570397 CNV loss 21841781
nsv94962 CNV deletion 16902084

Variation tolerance for BLM Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.93; 74.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BLM Gene

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

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

Disorders for BLM Gene

MalaCards: The human disease database

(6) MalaCards diseases for BLM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bloom syndrome
  • bloom-torre-machacek syndrome
werner syndrome
  • adult premature ageing syndrome
  • absence of fingerprints
rothmund-thomson syndrome
  • erythrokeratodermia variabilis
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards
Search BLM in MalaCards View complete list of genes associated with diseases


  • Bloom syndrome (BLM) [MIM:210900]: An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability. {ECO:0000269 PubMed:10862105, ECO:0000269 PubMed:7585968, ECO:0000269 PubMed:9285778}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for BLM Gene

Bloom syndrome,characterized by dwarfism,sun sensitivity,immunodeficiency and a high risk for various cancers,,with increased chromosomal instability (increased large DNA deletions) and sister chromatide exchanges

Relevant External Links for BLM

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with BLM: view

Publications for BLM Gene

  1. Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. (PMID: 9285778) Foucault F. … Amor-Gueret M. (Hum. Mol. Genet. 1997) 3 4 22 46 64
  2. Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM. (PMID: 19945966) Frank B. … Brenner H. (Carcinogenesis 2010) 3 22 46 64
  3. A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women. (PMID: 19205873) Wang Z. … Shen H. (Breast Cancer Res. Treat. 2009) 3 22 46 64
  4. Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. (PMID: 19432957) Broberg K. … HAPglund M. (BMC Cancer 2009) 3 22 46 64
  5. Genetic variants of BLM interact with RAD51 to increase breast cancer susceptibility. (PMID: 18974064) Ding S.L. … Shen C.Y. (Carcinogenesis 2009) 3 22 46 64

Products for BLM Gene

Sources for BLM Gene

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