Aliases for BLM Gene
Aliases for BLM Gene
External Ids for BLM Gene
- HGNC: 1058
- Entrez Gene: 641
- Ensembl: ENSG00000197299
- OMIM: 604610
- UniProtKB: P54132
Previous GeneCards Identifiers for BLM Gene
- GC15P087894
- GC15P085101
- GC15P088847
- GC15P088990
- GC15P089061
- GC15P091260
- GC15P067371
Summaries 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 Gene Expression and Integrated Breast Cancer Pathway. 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 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).
Additional gene information for BLM Gene
- Monarch Initiative
- Search for BLM at DataMed
- Search for BLM at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLM Gene
Genomics for BLM Gene
GeneHancer (GH) Regulatory Elements for BLM Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BLM gene promoter:
-
- AP-1
- p53
- c-Jun
- ATF-2
- PPAR-gamma2
- PPAR-gamma1
- GATA-1
- NRF-2
- USF-1
- USF1
Regulatory Element Products
Genomic Locations for BLM Gene
Genomic Locations for BLM Gene
- chr15:90,717,327-90,816,165
- (GRCh38/hg38)
- Size:
- 98,839 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:
-
- 15q26.1 by Entrez Gene
- 15q26.1 by HGNC
- 15q26.1 by Ensembl
BLM Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BLM Gene
Proteins for BLM Gene
-
Protein details for BLM Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P54132-BLM_HUMAN
- Recommended name:
- Bloom syndrome protein
- Protein Accession:
- P54132
- 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.
Protein Expression 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
Other Protein References for BLM Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for BLM
- Novus Biologicals Antibodies for BLM
-
Abcam antibodies for BLM
- Invitrogen Antibodies for BLM (AFLGC-BLM)
- antibodies-online: Search results for available BLM related products ranked by validation data
- GeneTex BLM Antibody for BLM
-
Santa Cruz Biotechnology (SCBT) Antibodies for BLM
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for BLM
- Origene Custom Protein Services for BLM
- Novus Biologicals proteins for BLM
- antibodies-online: Search results for available BLM related products ranked by validation data
- Search GeneTex for Proteins for BLM
-
Abcam proteins for BLM
No data available for DME Specific Peptides for BLM Gene
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for BLM Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P54132UniProtKB/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.
Function for BLM Gene
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:
- ATP + H(2)O = ADP + phosphate.
- 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
| 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 |
Phenotypes for BLM Gene
- MGI mutant phenotypes for BLM:
- inferred from 7 alleles
- GenomeRNAi human phenotypes for BLM:
Animal Models for BLM Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for BLM
-
CRISPR Products
-
OriGene CRISPR knockouts for BLM
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BLM
- genomics-online: gRNA clones - Search results for available BLM gene related products
- Applied Biological Materials CRISPR for BLM
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BLM
- GenScript: Design CRISPR guide RNA sequences for BLM
miRNA for BLM Gene
- miRTarBase miRNAs that target BLM
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BLM
- Browse OriGene Inhibitory RNA Products For BLM
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BLM
- genomics-online: shRNA clones - Search results for available BLM gene related products
Clone Products
- Sino Biological Human cDNA Clone for BLM
- Addgene plasmids for BLM
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BLM
- genomics-online: cdna clones - Search results for available BLM gene related products
- orf clones - Search results for available BLM gene related products
- Applied Biological Materials Clones for BLM
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| golgi apparatus | 1 |
- Nucleus (3)
- Cytosol (2)
| 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 | IDA | 9388480 |
Pathways & Interactions for BLM Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Double-Strand Break Repair |
.53
|
|
| 2 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) | ||
| 3 | Homologous DNA Pairing and Strand Exchange | ||
| 4 | Regulation of TP53 Activity | ||
| 5 | SUMOylation |
.95
|
|
Pathways by source for BLM Gene
3 BioSystems pathways for BLM Gene
28 Reactome pathways for BLM Gene
2 KEGG pathways for BLM Gene
1 GeneGo (Thomson Reuters) pathway for BLM Gene
1 Qiagen pathway for BLM Gene
1 Cell Signaling Technology pathway for BLM Gene
Interacting Proteins for BLM Gene
Selected Interacting proteins:
P54132-BLM_HUMAN
ENSP00000347232
for BLM Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for BLM
| 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,IBA | 11309417 |
| GO:0000729 | DNA double-strand break processing | IDA | 21325134 |
| GO:0000731 | DNA synthesis involved in DNA repair | TAS | -- |
| GO:0000732 | strand displacement | TAS | -- |
Drugs & Compounds for BLM Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Citric Acid | Approved, Vet_approved | Nutra | Agonist, Activator, Target | 1243 | ||
| Bleomycin | Approved, Investigational | Pharma | 162 | |||
| Dacarbazine | Approved, Investigational | Pharma | 719 | |||
| Doxil | Approved June 1999 | Pharma | DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors | 1828 | ||
| Doxorubicin | Approved, Investigational | Pharma | Topo II inhibitor,immunosuppresive antineoplastic antibiotic | 1828 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
Drug Products
Transcripts for BLM Gene
mRNA/cDNA for BLM Gene
- (7) REFSEQ mRNAs :
- (17) Additional mRNA sequences :
- (75) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000355112 5258 bps (uc002bpr.5)
- ENST00000560509 3966 bps (uc010bnx.5)
- ENST00000559724 4510 bps (uc059ngc.1)
- ENST00000559282 866 bps (uc059ngd.1)
- ENST00000558599 577 bps (uc059nge.1)
Unigene Clusters for BLM Gene
CRISPR Products
-
OriGene CRISPR knockouts for BLM
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BLM
- genomics-online: gRNA clones - Search results for available BLM gene related products
- Applied Biological Materials CRISPR for BLM
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BLM
- GenScript: Design CRISPR guide RNA sequences for BLM
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BLM
- Browse OriGene Inhibitory RNA Products For BLM
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BLM
- genomics-online: shRNA clones - Search results for available BLM gene related products
Clone Products
- Sino Biological Human cDNA Clone for BLM
- Addgene plasmids for BLM
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BLM
- genomics-online: cdna clones - Search results for available BLM gene related products
- orf clones - Search results for available BLM gene related products
- Applied Biological Materials Clones for BLM
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of BLM Gene:
BLMSOURCE GeneReport for Unigene cluster for BLM Gene:
Hs.725208Phenotype-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
Primer Products
-
OriGene qPCR primer pairs for BLM
- genomics-online: primer clones - Search results for available BLM gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for BLM Gene
Orthologs for BLM Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BLM 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | BLM 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BLM 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | BLM 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Blm 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Blm 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BLM 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BLM 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | BLM 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | blm 33 |
|
||
| Str.4549 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | blm-A 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | blm 34 33 |
|
OneToOne | |
| Dr.13183 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | mus309 34 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | him-6 34 35 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SGS1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | Cin.1380 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.1380 33 |
|
- 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
- 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
Variants for BLM Gene
| SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1009065257 | likely-benign, Hereditary cancer-predisposing syndrome | 90,784,979(+) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant | |
| rs1013299710 | uncertain-significance, Bloom syndrome | 90,749,774(+) | T/G | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant | |
| rs1022266595 | uncertain-significance, Bloom syndrome | 90,815,248(+) | C/G/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant | |
| rs1022898915 | uncertain-significance, Bloom syndrome | 90,754,915(+) | C/G | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs1023396216 | likely-benign, Hereditary cancer-predisposing syndrome | 90,769,536(+) | C/G | coding_sequence_variant, synonymous_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLM Gene
Disorders for BLM Gene
(6) MalaCards diseases for BLM Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| bloom syndrome |
|
|
| werner syndrome |
|
|
| rothmund-thomson syndrome |
|
|
| adermatoglyphia |
|
|
| leber congenital amaurosis 2 |
|
|
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
Publications for BLM Gene
- 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 22 44 58
- Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM. (PMID: 19945966) Frank B … Brenner H (Carcinogenesis 2010) 3 22 44 58
- Genetic variants of BLM interact with RAD51 to increase breast cancer susceptibility. (PMID: 18974064) Ding SL … Shen CY (Carcinogenesis 2009) 3 22 44 58
- 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 22 44 58
- 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 22 44 58
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Sources for BLM Gene
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