BLM Gene (Protein Coding)

BLM RecQ Like Helicase

GC15P090717
GIFtS:
48
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 i... See more...

Aliases for BLM Gene

Aliases for BLM Gene

  • BLM RecQ Like Helicase 2 3 5
  • RECQL3 2 3 4
  • RECQ2 2 3 4
  • Bloom Syndrome RecQ Like Helicase 2 3
  • DNA Helicase, RecQ-Like Type 2 3 4
  • Bloom Syndrome Protein 3 4
  • RecQ Protein-Like 3 3 4
  • BS 2 3
  • Bloom Syndrome, RecQ Helicase-Like 3
  • Bloom Syndrome 2
  • EC 3.6.4.12 4
  • MGRISCE1 3
  • EC 3.6.1 51
  • RECQL2 3
  • RecQ2 4
  • BLM 5

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 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]

GeneCards Summary for BLM Gene

BLM (BLM RecQ Like Helicase) is a Protein Coding gene. Diseases associated with BLM include Bloom Syndrome and Inherited Cancer-Predisposing Syndrome. Among its related pathways are Homologous DNA Pairing and Strand Exchange and DNA damage_ATM/ATR regulation of G1/S checkpoint. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATPase activity. An important paralog of this gene is WRN.

UniProtKB/Swiss-Prot Summary for BLM Gene

  • 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).

Gene Wiki entry for BLM Gene

Additional gene information for BLM Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BLM Gene

Genomics for BLM Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BLM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BLM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BLM

Top Transcription factor binding sites by QIAGEN in the BLM gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • GATA-1
  • NRF-2
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • USF-1
  • USF1

Genomic Locations for BLM Gene

Genomic Locations for BLM Gene
chr15:90,717,346-90,816,166
(GRCh38/hg38)
Size:
98,821 bases
Orientation:
Plus strand
chr15:91,260,558-91,358,859
(GRCh37/hg19)
Size:
98,302 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for BLM Gene

Proteins for BLM Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P54132-BLM_HUMAN
    Recommended name:
    Bloom syndrome protein
    Protein Accession:
    P54132
    Secondary Accessions:
    • Q52M96

    Protein attributes for BLM Gene

    Size:
    1417 amino acids
    Molecular mass:
    159000 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer (PubMed:28228481). Homodimer (via N-terminus) (PubMed:28228481). Homotetramer (via N-terminus); dimer of dimers (PubMed:28228481). Homohexamer (via N-terminus) (PubMed:28228481). Self-association negatively regulates DNA unwinding amplitude and rate. Oligomeric complexes dissociate into monomer in presence of ATP (PubMed:28228481). 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

Protein Expression for BLM Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for BLM Gene

P54132:
  • GKSLCYQ
  • AFGMGIDKPDVR
  • VHYFNIF
  • GIIYCLSR
  • YYQESGRAGRD
  • MALTATA
  • SQWGHDFR
  • FRTNQLEAINA

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

Other Protein References for BLM Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for BLM Gene

Gene Families for BLM Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for BLM Gene

InterPro:
Blocks:
  • ATP-dependent helicase, DEAH-box
  • HRDC domain
  • BDHCT
ProtoNet:

Suggested Antigen Peptide Sequences for BLM Gene

GenScript: Design optimal peptide antigens:
  • BLM protein (B7ZKN7_HUMAN)
  • RecQ protein-like 3 (BLM_HUMAN)
  • BLM protein (Q3B7X0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P54132

UniProtKB/Swiss-Prot:

BLM_HUMAN :
  • The N-terminal region mediates dimerization and homooligomerization (PubMed:28228481). Both the helicase ATP-binding domain and the helicase C-terminal domain form intramolecular interactions with the HRDC domain in a ATP-dependent manner (PubMed:25901030). The HRDC domain is required for single-stranded DNA (ssDNA) and DNA Holliday junction binding (PubMed:20639533).
  • Belongs to the helicase family. RecQ subfamily.
Domain:
  • The N-terminal region mediates dimerization and homooligomerization (PubMed:28228481). Both the helicase ATP-binding domain and the helicase C-terminal domain form intramolecular interactions with the HRDC domain in a ATP-dependent manner (PubMed:25901030). The HRDC domain is required for single-stranded DNA (ssDNA) and DNA Holliday junction binding (PubMed:20639533).
Family:
  • Belongs to the helicase family. RecQ subfamily.
genes like me logo Genes that share domains with BLM: view

Function for BLM Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for BLM Gene

UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; Evidence={ECO:0000269|PubMed:24816114, ECO:0000269|PubMed:25901030};.
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

Enzyme Numbers (IUBMB) for BLM Gene

Phenotypes From GWAS Catalog 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:0000400 four-way junction DNA binding IDA 11735402
GO:0000403 Y-form DNA binding IDA 11735402
GO:0000405 bubble DNA binding IDA 11433031
GO:0002039 p53 binding IPI 11781842
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:
  • Blm Blm<tm3Brd>
  • Blm Blm<tm2Brd>
  • Blm Blm<tm1Ches>
  • Blm Blm<tm1Grdn>
  • Blm Blm<tm3Ches>

Animal Model Products

CRISPR Products

miRNA for BLM Gene

miRTarBase miRNAs that target BLM

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BLM

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

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 BLM gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

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:0005634 nucleus IEA,IDA 9388480
GO:0005654 nucleoplasm IDA,TAS --
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
  • DNA damage_ATM/ATR regulation of G1/S checkpoint
1 Qiagen pathway for BLM Gene
  • BRCA1 Pathway
1 Cell Signaling Technology 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:0000723 telomere maintenance IBA 21873635
GO:0000724 double-strand break repair via homologous recombination IBA,NAS 11309417
GO:0000729 DNA double-strand break processing IDA 21325134
GO:0000733 DNA strand renaturation IEA --
genes like me logo Genes that share ontologies with BLM: view

Drugs & Compounds for BLM Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amoxicillin Approved, Vet_approved Pharma Enzyme, substrate 655
Citric acid Approved, Vet_approved Nutra Activator, Agonist, Target 1509
Bleomycin Approved, Investigational Pharma 172
Dacarbazine Approved, Investigational Pharma 193
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2029

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 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

Drug Products

Transcripts for BLM Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BLM Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BLM

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: -
SP3:
SP4:
SP5:
SP6:

ExUns: 24 ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for BLM Gene

GeneLoc Exon Structure for
BLM

Expression for BLM Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for BLM Gene
mRNA expression by GTEx for BLM GenemRNA expression by BioGPS 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, MaxQB, and MOPED for BLM Gene



Protein tissue co-expression partners for BLM Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BLM

SOURCE GeneReport for Unigene cluster for BLM Gene:

Hs.725208

Evidence on tissue expression from TISSUES for BLM Gene

  • Skin(2.4)
  • Nervous system(2.1)
  • Intestine(2.1)
  • Kidney(2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BLM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • sinus
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
Pelvis:
  • ovary
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with BLM: view

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
Chimpanzee
(Pan troglodytes)
 Mammalia BLM 30 31
  • 99.22 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BLM 30 31
  • 86.94 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BLM 30 31
  • 86.15 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia BLM 31
  • 83 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Blm 30 17 31
  • 82.25 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Blm 30
  • 80.7 (n)
Oppossum
(Monodelphis domestica)
 Mammalia BLM 31
  • 66 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves BLM 30 31
  • 59.66 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia BLM 31
  • 52 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia blm 30
  • 67.86 (n)
Str.4549 30
African clawed frog
(Xenopus laevis)
 Amphibia blm-A 30
Zebrafish
(Danio rerio)
 Actinopterygii blm 30 31
  • 67.26 (n)
 OneToOne
Dr.13183 30
Fruit Fly
(Drosophila melanogaster)
 Insecta mus309 31 32
  • 29 (a)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea him-6 31 32
  • 32 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SGS1 31
  • 22 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.1380 30
Species where no ortholog for BLM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)

Evolution for BLM Gene

ENSEMBL:
Gene Tree for BLM (if available)
TreeFam:
Gene Tree for BLM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BLM: view image

Paralogs for BLM Gene

Paralogs for BLM Gene

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

  • BLM_HUMAN
  • B7ZKN7_HUMAN
  • H0YLV8_HUMAN
  • H0YNU5_HUMAN
  • Q3B7X0_HUMAN
genes like me logo Genes that share paralogs with BLM: view

Variants for BLM Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BLM Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
638868 Uncertain Significance: Bloom syndrome 90,811,367(+) A/G MISSENSE_VARIANT
639565 Uncertain Significance: Bloom syndrome 90,815,115(+) T/C MISSENSE_VARIANT
639986 Uncertain Significance: Bloom syndrome; Hereditary cancer-predisposing syndrome 90,749,440(+) C/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
640056 Uncertain Significance: Bloom syndrome 90,761,030(+) A/G MISSENSE_VARIANT
640154 Uncertain Significance: Bloom syndrome 90,761,194(+) T/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BLM Gene

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)

Additional Variant Information for BLM Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BLM Gene

MalaCards: The human disease database

(16) MalaCards diseases for BLM Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bloom syndrome
  • bls
inherited cancer-predisposing syndrome
  • hereditary cancer-predisposing syndrome
hereditary breast ovarian cancer syndrome
  • brca1- and brca2-associated hereditary breast and ovarian cancer
werner syndrome
  • wrn
rothmund-thomson syndrome, type 2
  • rts2
- elite association - COSMIC cancer census association via MalaCards
Search BLM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BLM_HUMAN
  • 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

Additional Disease Information for BLM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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-Guéret M (Human molecular genetics 1997) 3 4 23 41
  2. Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM. (PMID: 19945966) Frank B … Brenner H (Carcinogenesis 2010) 3 23 41
  3. A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women. (PMID: 19205873) Wang Z … Shen H (Breast cancer research and treatment 2009) 3 23 41
  4. Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. (PMID: 19432957) Broberg K … Höglund M (BMC cancer 2009) 3 23 41
  5. Genetic variants of BLM interact with RAD51 to increase breast cancer susceptibility. (PMID: 18974064) Ding SL … Shen CY (Carcinogenesis 2009) 3 23 41

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