BLM Gene

Name	Bloom syndrome, RecQ helicase-like
Description	The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Bloom syndrome protein (BLM) is a RecQ helicase that plays a central role in maintaining genome integrity through multiple, coordinated activities. Biochemical and structural studies have demonstrated that BLM, often acting in concert with telomere‐associated proteins such as TRF2, promotes proper telomere replication and stability while stimulating its helicase activity to resolve complex DNA structures that arise during replication."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Characterization of a minimal helicase core further revealed its function as a DNA‐stimulated ATPase that unwinds defined DNA substrates, thereby suppressing illegitimate recombination events and reducing deleterious sister chromatid exchanges that occur when replication forks stall."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " In addition, studies on gene expression profiles in Bloom syndrome cells have linked BLM deficiency to altered regulation of transcription initiation sites enriched in G-quadruplex (G4) motifs, while its helicase activity is essential for resolving both R-loop and G4 structures that can impede replication and transcription."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Structural insights into the HRDC domain of BLM further highlight its role in mediating specific protein–DNA interactions that contribute to the dissolution of recombination intermediates, especially when operating with the RMI subcomplex to control crossover events."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Moreover, BLM forms functional complexes with other key regulators of DNA repair and cell cycle control, interacting with topoisomerase I to coordinate rRNA transcription and with p53 to modulate transcriptional responses and growth inhibition, thus linking its helicase activity to tumor suppression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}, {"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Finally, studies employing Blm-deficient genetic backgrounds have further underscored the pivotal role of BLM in suppressing genomic rearrangements and in maintaining the fidelity of homologous recombination, with its loss contributing to extensive genomic restructuring and cancer predisposition."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Patricia L Opresko, Cayetano von Kobbe, Jean-Philippe Laine, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M205396200"}], "href": "https://doi.org/10.1074/jbc.M205396200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12181313"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12181313"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Patrick M Grierson, Samir Acharya, Joanna Groden "}, {"type": "b", "children": [{"type": "t", "text": "Collaborating functions of BLM and DNA topoisomerase I in regulating human rDNA transcription."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mutat Res (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mrfmmm.2012.12.002"}], "href": "https://doi.org/10.1016/j.mrfmmm.2012.12.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23261817"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23261817"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Pavel Janscak, Patrick L Garcia, Fabienne Hamburger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization and mutational analysis of the RecQ core of the bloom syndrome protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0022-2836(03)00534-5"}], "href": "https://doi.org/10.1016/s0022-2836(03"}, {"type": "t", "text": "00534-5) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12818200"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12818200"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Seiki Hirano, Kazuhiko Yamamoto, Masamichi Ishiai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional relationships of FANCC to homologous recombination, translesion synthesis, and BLM."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.emboj.7600534"}], "href": "https://doi.org/10.1038/sj.emboj.7600534"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15616572"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15616572"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Giang Huong Nguyen, Weiliang Tang, Ana I Robles, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1404807111"}], "href": "https://doi.org/10.1073/pnas.1404807111"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24958861"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24958861"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Jun Tan, Xiangyu Wang, Laiyee Phoon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Resolution of ROS-induced G-quadruplexes and R-loops at transcriptionally active sites is dependent on BLM helicase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/1873-3468.13738"}], "href": "https://doi.org/10.1002/1873-3468.13738"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31977077"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31977077"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Akiko Sato, Masaki Mishima, Aki Nagai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Solution structure of the HRDC domain of human Bloom syndrome protein BLM."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biochem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jb/mvq097"}], "href": "https://doi.org/10.1093/jb/mvq097"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20739603"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20739603"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Kelly A Hoadley, Yutong Xue, Chen Ling, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1117279109"}], "href": "https://doi.org/10.1073/pnas.1117279109"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22392978"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22392978"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "I V Garkavtsev, N Kley, I A Grigorian, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.onc.1205120"}], "href": "https://doi.org/10.1038/sj.onc.1205120"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11781842"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11781842"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Takeshi Suzuki, Ken-ichi Minehata, Keiko Akagi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tumor suppressor gene identification using retroviral insertional mutagenesis in Blm-deficient mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.emboj.7601215"}], "href": "https://doi.org/10.1038/sj.emboj.7601215"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16858412"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16858412"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Michael W Killen, Dawn M Stults, Noritaka Adachi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of Bloom syndrome protein destabilizes human gene cluster architecture."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddp282"}], "href": "https://doi.org/10.1093/hmg/ddp282"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19542097"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19542097"}]}]}]}
Synonyms	MGRISCE1, RECQL2, RECQ2, BS, RECQL3
Proteins	BLM_HUMAN
NCBI Gene ID	641
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

BLM has 10,424 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 138 datasets.

Click the + buttons to view associations for BLM from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

BLM Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BLM gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of BLM gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of BLM gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of BLM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of BLM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BLM gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of BLM gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BLM gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BLM gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of BLM gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of BLM gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of BLM gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with BLM gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with BLM protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of BLM gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of BLM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of BLM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with BLM gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with BLM gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing BLM protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of BLM gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing BLM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing BLM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with BLM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with BLM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing BLM protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of BLM gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with BLM gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with BLM gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with BLM gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of BLM protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by BLM gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving BLM gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving BLM gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with BLM gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with BLM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with BLM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with BLM gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with BLM gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at BLM gene from the ENCODE Histone Modification Site Profiles dataset.