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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BLM Gene

protein-coding   GIFtS: 71
GCID: GC15P091260

Bloom Syndrome, RecQ Helicase-Like

(Previous name: Bloom syndrome)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Bloom Syndrome, RecQ Helicase-Like1 2     Bloom Syndrome1
RECQ22 3 5     RECQL22
RECQL32 3 5     Bloom Syndrome Protein2
RecQ Protein-Like 32 3     EC 3.6.4.123
DNA Helicase, RecQ-Like Type 22 3     RecQ23
BS2 5     EC 3.6.18

External Ids:    HGNC: 10581   Entrez Gene: 6412   Ensembl: ENSG000001972997   OMIM: 6046105   UniProtKB: P541323   

Export aliases for BLM gene to outside databases

Previous GC identifers: GC15P087894 GC15P085101 GC15P088847 GC15P088990 GC15P089061 GC15P067371


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 helicase-like) is a protein-coding gene. Diseases associated with BLM include bloom syndrome, and rothmund-thomson syndrome, and among its related super-pathways are Meiosis and Integrated Cancer pathway. GO annotations related to this gene include ATPase activity and ATP-dependent helicase activity. An important paralog of this gene is RECQL4.

UniProtKB/Swiss-Prot: BLM_HUMAN, P54132
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

Gene Wiki entry for BLM (Bloom syndrome protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010274.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BLM gene promoter:
         USF1   p53   AP-1   ATF-2   GATA-1   PPAR-gamma1   NRF-2   USF-1   c-Jun   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBLM promoter sequence
   Search SABiosciences Chromatin IP Primers for BLM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BLM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q26.1   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26.1

BLM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BLM gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P091260:  view genomic region     (about GC identifiers)

Start:
91,260,558 bp from pter      End:
91,358,859 bp from pter
Size:
98,302 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BLM_HUMAN, P54132 (See protein sequence)
Recommended Name: Bloom syndrome protein  
Size: 1417 amino acids; 159000 Da
Subunit: 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 component of RMI complex. Interacts with SUPV3L1
Subcellular location: Nucleus
2 PDB 3D structures from and Proteopedia for BLM:
2KV2 (3D)        2RRD (3D)    
Secondary accessions: Q52M96

Explore the universe of human proteins at neXtProt for BLM: NX_P54132

Explore proteomics data for BLM at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein
    complex, as well as the presence of RMI1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P54132

  • 4/8 DME Specific Peptides for BLM (P54132) (see all 8)
     MALTATA  VHYFNIF  GKSLCYQ  GIIYCLSR 

    BLM Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BLM Protein Expression
    REFSEQ proteins: NP_000048.1  
    ENSEMBL proteins: 
     ENSP00000347232   ENSP00000454158   ENSP00000453359  
    Reactome Protein details: P54132
    Human Recombinant Protein Products for BLM: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BLM 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome IDA--
    GO:0000781colocalizes with chromosome, telomeric region IDA10779560
    GO:0000800lateral element IDA10728666
    GO:0001673male germ cell nucleus IEA--
    GO:0005622intracellular ----

    BLM for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/11 InterPro protein domains (see all 11):
     IPR011991 WHTH_DNA-bd_dom
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR027417 P-loop_NTPase
     IPR018982 RQC_domain
     IPR004589 DNA_helicase_ATP-dep_RecQ

    Graphical View of Domain Structure for InterPro Entry P54132

    ProtoNet protein and cluster: P54132

    3 Blocks protein domains:
    IPB002121 HRDC domain
    IPB002464 ATP-dependent helicase
    IPB012532 BDHCT


    UniProtKB/Swiss-Prot: BLM_HUMAN, P54132
    Similarity: Belongs to the helicase family. RecQ subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain
    Similarity: Contains 1 HRDC domain


    BLM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BLM_HUMAN, P54132
    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for BLM:
    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): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): 5/18 molecular function terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0000405bubble DNA binding IDA11433031
    GO:0002039p53 binding IPI11781842
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding ----
         
    BLM for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BLM:
     Decreased POU5F1-GFP protein e 

         11 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Blm):
     cardiovascular system  cellular  embryogenesis  growth/size  hematopoietic system 
     immune system  integument  mortality/aging  no phenotypic analysis  normal 
     tumorigenesis 

    BLM for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BLM: Blmtm1Grdn Blmtm1Ches Blmtm2Brd Blmtm3Ches Blmtm3Brd

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BLM 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BLM 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BLM About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Meiotic Synapsis
    Meiosis0.70
    Meiotic Recombination0.62
    2Prostate Cancer
    Integrated Cancer pathway0.32
    Prostate Cancer0.32
    3DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32
    4DNA damage ATM/ATR regulation of G1/S checkpoint
    DNA damage ATM/ATR regulation of G1/S checkpoint0.98
    5Homologous recombination
    Homologous recombination0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for BLM
        DNA damage ATM/ATR regulation of G1/S checkpoint
    Meiosis

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for BLM
        BRCA1 Pathway

    2 Cell Signaling Technology (CST) Pathways for BLM
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for BLM
        DNA damage ATM/ATR regulation of G1/S checkpoint

    5 BioSystems Pathways for BLM
        Integrated Breast Cancer Pathway
    Prostate Cancer
    Integrated Pancreatic Cancer Pathway
    Regulation of Telomerase
    Integrated Cancer pathway

    2        Reactome Pathways for BLM
        Meiosis
    Meiotic Recombination


    2         Kegg Pathways  (Kegg details for BLM):
        Homologous recombination
    Fanconi anemia pathway


    BLM for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BLM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/686 Interacting proteins for BLM (P541321, 2, 3 ENSP000003472324) via UniProtKB, MINT, STRING, and/or I2D (see all 686)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRIP1Q9BX632, 3, ENSP000002590084MINT-8140896 MINT-8140932 MINT-8140908 MINT-8140923 MINT-8141084 MINT-8141063 MINT-8140879 MINT-8151233 MINT-8140957 MINT-8140977 MINT-8151248 MINT-8141011 MINT-8141100 MINT-8140943 MINT-8141074 MINT-8140834 I2D: score=2 STRING: ENSP00000259008
    RIF1Q5UIP02, 3, ENSP000002433264MINT-8049128 MINT-8048995 MINT-8048961 MINT-8049038 MINT-8048980 MINT-7945693 MINT-8049010 MINT-8049107 I2D: score=1 STRING: ENSP00000243326
    TOP3AQ134722, 3, ENSP000003216364MINT-8049128 MINT-8048995 MINT-8415512 MINT-8048961 MINT-8049038 MINT-8048980 MINT-8049010 I2D: score=5 STRING: ENSP00000321636
    BRCA1P383982, 3, ENSP000003502834MINT-8141011 MINT-8140834 I2D: score=1 STRING: ENSP00000350283
    MLH1P406922, 3, ENSP000002317904MINT-7945693 I2D: score=4 STRING: ENSP00000231790
    About this table

    Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000079regulation of cyclin-dependent protein serine/threonine kinase activity IMP15604258
    GO:0000085G2 phase of mitotic cell cycle NAS11309417
    GO:0000723telomere maintenance IEA--
    GO:0000724double-strand break repair via homologous recombination NAS11309417
    GO:0000729DNA double-strand break processing IDA--

    BLM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BLM for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BLM

    1 HMDB Compound for BLM    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    4 Novoseek inferred chemical compound relationships for BLM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydroxyurea 61.1 16 14729972 (3), 18278455 (2), 11960380 (1), 18923083 (1) (see all 6)
    methylmethanesulfonate 59.8 1 18078829 (1)
    camptothecin 31.1 5 16199871 (2), 18504617 (1)
    atp 1.33 9 14576316 (2), 17766252 (2), 15579905 (2), 17878217 (1)

    Search CenterWatch for drugs/clinical trials and news about BLM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for BLM gene: 
    NM_000057.2  

    Unigene Cluster for BLM:

    Bloom syndrome, RecQ helicase-like
    Hs.725208  [show with all ESTs]
    Unigene Representative Sequence: NM_000057
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355112(uc002bpr.3 uc010uqh.2 uc010uqi.2 uc010bnx.3)
    ENST00000560509 ENST00000559724 ENST00000559282 ENST00000558599 ENST00000559426
    ENST00000560136 ENST00000560559 ENST00000558825 ENST00000560821
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    Additional mRNA sequence: 

    AK295194.1 AK303159.1 AK314262.1 AL110293.1 BC034480.1 BC062697.1 BC093622.1 BC101567.1 
    BC107423.1 BC115028.1 BC115029.1 BC115030.1 BC115031.1 BC115032.1 BC143280.1 BC143288.1 
    U39817.1 

    7 DOTS entries:

    DT.454403  DT.100745822  DT.95265873  DT.206072  DT.91694225  DT.210826  DT.40192917 

    24/75 AceView cDNA sequences (see all 75):

    AI630521 AI097184 BI091601 AW575595 CR597614 CR615303 BP363946 NM_000057 
    BM804157 U39817 BM542461 CB243435 AA903504 AU185765 BI091772 BQ230262 
    BC034480 AA584761 BM451903 AL556853 BU588736 BE245802 BG721596 BX643048 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for BLM (see all 6)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for BLM

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BLM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGAAAGATA
    BLM Expression
    About this image


    See BLM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BLM

    SOURCE GeneReport for Unigene cluster: Hs.725208
        SABiosciences Expression via Pathway-Focused PCR Arrays including BLM: 
              DNA Damage Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat
              T-cell & B-cell Activation in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BLM gene from 10/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Blm1 , 5 Bloom syndrome, RecQ helicase-like1, 5 82.54(n)1
    77.62(a)1
      7 (45.65 cM)5
    121441  NM_001042527.21  NP_001035992.11 
     804549935 
    chicken
    (Gallus gallus)
    Aves BLM1 Bloom syndrome, RecQ helicase-like 59.8(n)
    56.32(a)
      415577  NM_001007087.1  NP_001007088.2 
    lizard
    (Anolis carolinensis)
    Reptilia BLM6
    Bloom syndrome, RecQ helicase-like
    51(a)
    1 ↔ 1
    2(135010404-135051639)
    African clawed frog
    (Xenopus laevis)
    Amphibia blm-A2 Bloom syndrome 76.66(n)    AF307841.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.131832 Transcribed sequence with weak similarity to protein more 75.21(n)    BG883546.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mus3093 DNA repair synthesis ATP dependent DNA
    helicase
    38(a)   86F4   --
    worm
    (Caenorhabditis elegans)
    Secernentea him-63 helicase 40(a)   IV(12487752-12495313)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SGS16
    Nucleolar DNA helicase of the RecQ family; involve...
    18(a)
    1 → many
    XIII(640915-645258)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RECQI11 ATP-dependent DNA helicase Q-like 1 51.66(n)
    43.64(a)
      819743  NM_111448.2  NP_187225.2 
    rice
    (Oryza sativa)
    Liliopsida Os11g06727001 hypothetical protein 50.2(n)
    44.02(a)
      4351098  NM_001074968.1  NP_001068436.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BLM gene
    RECQL42  WRN2  RECQL52  RECQL2  
    1 SIMAP similar gene for BLM using alignment to 5 protein entries:     BLM_HUMAN (see all proteins):
    RECQL

    BLM for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BLM
    PGOHUM00000261518


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2439 SNPs in BLM are shown (see all 2439)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0069014
    Bloom syndrome (BLM)4--see VAR_0069012 Q R mis40--------
    VAR_0069034
    Bloom syndrome (BLM)4--see VAR_0069032 C S mis40--------
    VAR_0160334
    Bloom syndrome (BLM)4--see VAR_0160332 C R mis40--------
    VAR_0091384
    Bloom syndrome (BLM)4--see VAR_0091382 G E mis40--------
    VAR_0091394
    Bloom syndrome (BLM)4--see VAR_0091392 C Y mis40--------
    VAR_0069024
    Bloom syndrome (BLM)4--see VAR_0069022 T I mis40--------
    VAR_0091404
    Bloom syndrome (BLM)4--see VAR_0091402 C F mis40--------
    VAR_0160324
    Bloom syndrome (BLM)4--see VAR_0160322 I T mis40--------
    rs1139939621,2
    Cpathogenic171034633(+) TACATATCTGA/ 
     TAGATTC
    CAGGT
    2 YLT LDSR fra10--------
    rs1489692221,2
    Cpathogenic171071448(+) TAAAGA/G/TTATAG 1 -- spd11NA 4364

    HapMap Linkage Disequilibrium report for BLM (91260558 - 91358859 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BLM:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2673999CNV Deletion23128226
    nsv94962CNV Loss16902084


    Human Gene Mutation Database (HGMD): BLM

    Locus Specific Mutation Databases (LSDB): BLM
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604610   
    OMIM disorders: 210900  
    UniProtKB/Swiss-Prot: BLM_HUMAN, P54132
  • Bloom syndrome (BLM) [MIM:210900]: An autosomal recessive disorder characterized by proportionate pre-
    and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to
    malignancy, and chromosomal instability. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 20/35 diseases for BLM (see all 35):    About MalaCards
    bloom syndrome    rothmund-thomson syndrome    werner syndrome    splenic infarction
    acute chest syndrome    priapism    nijmegen breakage syndrome    mutagen sensitivity
    fanconi's anemia    hemoglobinopathy    subacute sclerosing panencephalitis    osteomyelitis
    ataxia telangiectasia    dwarfism    breast cancer susceptibility    sickle cell anemia
    anemia    albinism    thalassemia    brain disease

    3 diseases from the University of Copenhagen DISEASES database for BLM:
    Bloom syndrome     Werner syndrome     Genetic disorder

    BLM for disorders           About GeneDecksing

    10/15 Novoseek inferred disease relationships for BLM gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bloom syndrome 98.7 105 15137905 (5), 18401830 (3), 17407155 (2), 9285778 (2) (see all 79)
    werner syndrome 92 19 15702347 (1), 12595564 (1), 16793396 (1), 17623900 (1) (see all 19)
    rothmund-thomson syndrome 91.1 12 15702347 (1), 12595564 (1), 16793396 (1), 17623900 (1) (see all 12)
    ataxia telangiectasia 69.9 7 16199871 (1), 17768402 (1), 11309417 (1), 17984114 (1) (see all 7)
    skin abnormalities 68.4 2 19238688 (1)
    genetic disorder 66.8 6 12595564 (1), 18401830 (1), 18430459 (1), 17634426 (1) (see all 6)
    cancer 57.8 45 19432957 (5), 16181657 (1), 17599064 (1), 18682526 (1) (see all 33)
    fanconis anemia 55.3 4 19738377 (2), 11876000 (1), 11733219 (1)
    nijmegen breakage syndrome 48.8 1 11733219 (1)
    chromosomal aberrations 44.2 3 10652259 (1), 10620009 (1), 19465921 (1)

    Genatlas disease: BLM
    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

    GeneTests: BLM
    GeneReviews: BLM
    Genetic Association Database (GAD): BLM
    Human Genome Epidemiology (HuGE) Navigator: BLM (47 documents)

    Export disorders for BLM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BLM gene, integrated from 9 sources (see all 311):
    (articles sorted by number of sources associating them with BLM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. (PubMed id 9285778)1, 2, 4, 9 Foucault F.... Amor-Gueret M. (1997)
    2. The Bloom's syndrome gene product is a 3'-5' DNA helicase. (PubMed id 9388193)1, 2, 3 Karow J.K.... Hickson I.D. (1997)
    3. Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. (PubMed id 19432957)1, 4, 9 Broberg K....HAPglund M. (2009)
    4. Genetic variants of BLM interact with RAD51 to increase breast cancer susceptibility. (PubMed id 18974064)1, 4, 9 Ding S.L....Shen C.Y. (2008)
    5. A double Holliday junction dissolvasome comprising BLM, topoisomerase III alpha, and BLAP75. (PubMed id 16595695)1, 2, 9 Raynard S.... Sung P. (2006)
    6. Colorectal cancer and polymorphisms in DNA repair gen es WRN, RMI1 and BLM. (PubMed id 19945966)1, 4, 9 Frank B....Brenner H. (2010)
    7. The Bloom's syndrome gene product is homologous to RecQ helicases. (PubMed id 7585968)1, 2, 9 Ellis N.A.... German J. (1995)
    8. A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women. (PubMed id 19205873)1, 4, 9 Wang Z....Shen H. (2009)
    9. Interaction of human SUV3 RNA/DNA helicase with BLM helicase; loss of the SUV3 gene results in mouse embryonic lethality. (PubMed id 17961633)1, 2, 9 Pereira M....Stepien P.P. (2007)
    10. Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. (PubMed id 11876000)1, 4, 9 Peleg L....Barkai G. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 641 HGNC: 1058 AceView: BLM Ensembl:ENSG00000197299 euGenes: HUgn641
    ECgene: BLM Kegg: 641 H-InvDB: BLM

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BLM Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BLM Genetics and Cytogenetics in Oncology and Haematology
    BLMbasehttp://bioinf.uta.fi/BLMbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BLM
    NIEHS-SNPshttp://egp.gs.washington.edu/data/blm/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BLM gene:
    Search GeneIP for patents involving BLM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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