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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BLM
BLM RecQ like helicase
Chromosome 15 Β· 15q26.1
NCBI Gene: 641Ensembl: ENSG00000197299.13HGNC: HGNC:1058UniProt: B7ZKN7
391PubMed Papers
21Diseases
0Drugs
587Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous RecombinationHub Gene
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cellular response to ionizing radiationPML bodynegative regulation of cell divisiontelomeric D-loop disassemblyBloom syndromehereditary neoplastic syndromeInherited cancer-predisposing syndromecancer
✦AI Summary

BLM (Bloom syndrome helicase) is a RecQ family DNA helicase essential for maintaining genomic stability through multiple DNA repair mechanisms. The protein functions primarily in homologous recombination repair, forming the BTR complex with topoisomerase IIIΞ±, RMI1, and RMI2 to dissolve double Holliday junctions and prevent chromosome 15 1. BLM exhibits 3'-5' helicase activity and processes various DNA substrates including four-way junctions, G-quadruplexes, and replication fork intermediates. At telomeres, BLM plays a crucial role in alternative lengthening of telomeres (ALT) by unwinding lagging strand substrates to assemble DNA damage responses 2. The protein also functions in telomere protection by promoting D-loop unwinding and inhibiting aberrant homology-directed repair when recruited by TRF2-RAP1 3. BLM stability is regulated by USP37-mediated deubiquitination, which is enhanced following DNA damage 4. Loss-of-function mutations in BLM cause Bloom syndrome, a genetic disorder characterized by growth retardation, immunodeficiency, and cancer predisposition. In cancer contexts, BLM is overexpressed in glioblastoma and contributes to chemotherapy resistance, with BLM-depleted cells showing increased sensitivity to DNA-damaging agents 54.

Sources cited
1
BLM forms BTR complex with topoisomerase IIIΞ±, RMI1, and RMI2 to dissolve double Holliday junctions
PMID: 38266639
2
BLM acts on lagging strand telomere intermediates in ALT-positive cells to assemble DNA damage response
PMID: 38593805
3
BLM promotes D-loop unwinding and inhibits aberrant homology-directed repair when recruited by TRF2-RAP1
PMID: 39082275
4
USP37 deubiquitinates and stabilizes BLM, with knockdown leading to enhanced DNA damage and chemotherapy sensitivity
PMID: 34606619
5
BLM is overexpressed in glioblastoma and BLM-depleted glioma cells show increased sensitivity to chemotherapeutics
PMID: 41023983
Disease Associationsβ“˜21
Bloom syndromeOpen Targets
0.85Strong
hereditary neoplastic syndromeOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.57Moderate
cancerOpen Targets
0.55Moderate
colorectal cancerOpen Targets
0.51Moderate
lymphomaOpen Targets
0.46Moderate
leukemiaOpen Targets
0.46Moderate
ImmunodeficiencyOpen Targets
0.46Moderate
immune system diseaseOpen Targets
0.46Moderate
immunodeficiency diseaseOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
acute myeloid leukemiaOpen Targets
0.44Moderate
acute lymphoblastic leukemiaOpen Targets
0.42Moderate
Hereditary breast and ovarian cancer syndromeOpen Targets
0.39Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.39Weak
carcinomaOpen Targets
0.37Weak
myelodysplastic syndromeOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
microcephalic primordial dwarfismOpen Targets
0.37Weak
Bloom syndromeUniProt
Pathogenic Variants587
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)Pathogenic
Bloom syndrome|not provided|Hereditary cancer-predisposing syndrome|BLM-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 736
NM_000057.4(BLM):c.3028del (p.Asp1010fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1010
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)Pathogenic
not provided|Bloom syndrome|Hereditary cancer-predisposing syndrome|BLM-related disorder|Colorectal cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 548
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided|BLM-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 836
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)Pathogenic
not provided|Bloom syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 899
NM_000057.4(BLM):c.3210+2delPathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2026
NM_000057.4(BLM):c.1752del (p.Gln585fs)Pathogenic
Bloom syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 585
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)Pathogenic
Bloom syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 498
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs)Pathogenic
Bloom syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 1027
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)Pathogenic
Bloom syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 704
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)Pathogenic
Bloom syndrome|not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 700
NM_000057.4(BLM):c.772_773del (p.Leu258fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 258
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided|BLM-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 645
NM_000057.4(BLM):c.1544dup (p.Asn515fs)Pathogenic
Bloom syndrome|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 515
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 1223
NM_000057.4(BLM):c.1968dup (p.Lys657fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 657
NM_000057.4(BLM):c.3020-258A>GPathogenic
Bloom syndrome
β˜…β˜…β˜†β˜†2026
NM_000057.4(BLM):c.511dup (p.Thr171fs)Pathogenic
Hereditary cancer-predisposing syndrome|Bloom syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 171
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 494
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)Pathogenic
Bloom syndrome|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 751
View on ClinVar β†—
Related Genes
RPA2Protein interaction100%BRIP1Protein interaction100%RAD51BProtein interaction100%POT1Protein interaction100%RAD52Protein interaction100%TOP3AProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
30%
Heart
29%
Lung
10%
Liver
4%
Ovary
2%
Gene Interaction Network
Click a node to explore
BLMRPA2BRIP1RAD51BPOT1RAD52TOP3A
PROTEIN STRUCTURE
Preparing viewer…
PDB7XV0 Β· 1.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.60–0.85]
RankingsWhere BLM stands among ~20K protein-coding genes
  • #755of 20,598
    Most Researched391 Β· top 5%
  • #84of 5,498
    Most Pathogenic Variants587 Β· top 5%
  • #7,314of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedBLM
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Pulmonary fibrosis model of mice induced by different administration methods of bleomycin.
PMID: 36944966
BMC Pulm Med Β· 2023
1.00
2
Exosomal miR-17-5p from human embryonic stem cells prevents pulmonary fibrosis by targeting thrombospondin-2.
PMID: 37667335
Stem Cell Res Ther Β· 2023
0.90
3
Mechanistic insight into anaphase bridge signaling to the abscission checkpoint.
PMID: 40355560
EMBO J Β· 2025
0.80
4
BLM helicase unwinds lagging strand substrates to assemble the ALT telomere damage response.
PMID: 38593805
Mol Cell Β· 2024
0.80
5
[Bloom syndrome].
PMID: 10921324
Nihon Rinsho Β· 2000
0.72