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Blm Gene Detail
Summary
  • Symbol
    Blm
  • Name
    Bloom syndrome, RecQ like helicase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328362
    NCBI Gene: 12144
  • Gene Overview
    MyGene.info: BLM
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:80454993-80535147 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 45.65 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    560 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1328362
protein coding gene Chr7:80454733-80535147 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032416
protein coding gene Chr7:82431323-82514691 (-)
A/J MGP_AJ_G0032395
protein coding gene Chr7:80498713-80580534 (-)
AKR/J MGP_AKRJ_G0032331
protein coding gene Chr7:82248727-82338802 (-)
BALB/cJ MGP_BALBcJ_G0032407
protein coding gene Chr7:80174038-80255321 (-)
C3H/HeJ MGP_C3HHeJ_G0032120
protein coding gene Chr7:82892625-82975676 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032899
protein coding gene Chr7:85668783-85752968 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029907
protein coding gene Chr7:83020436-83101423 (-)
CAST/EiJ MGP_CASTEiJ_G0031448
protein coding gene Chr7:73783654-73869478 (-)
CBA/J MGP_CBAJ_G0032086
protein coding gene Chr7:88507131-88599765 (-)
DBA/2J MGP_DBA2J_G0032241
protein coding gene Chr7:79056678-79137729 (-)
FVB/NJ MGP_FVBNJ_G0032196
protein coding gene Chr7:78979052-79060252 (-)
LP/J MGP_LPJ_G0032322
protein coding gene Chr7:83667360-83752737 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032233
protein coding gene Chr7:88659892-88749081 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032917
protein coding gene Chr7:81679193-81762525 (-)
PWK/PhJ MGP_PWKPhJ_G0031168
protein coding gene Chr7:72246561-72330242 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031009
protein coding gene Chr7:68687604-68768937 (-)
WSB/EiJ MGP_WSBEiJ_G0031566
protein coding gene Chr7:82039695-82126467 (-)



Homology
more
  • Human Ortholog
    BLM, BLM RecQ like helicase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BLM, BLM RecQ like helicase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BS, MGRISCE1, RECQ2, RECQL2, RECQL3
  • Links
    NCBI Gene ID: 641
    neXtProt AC: NX_P54132
    UniProt: P54132

  • Chr Location
    15q26.1; chr15:90717327-90815462 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 47902
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: BLM
  • Gene Tree
    Blm
Human Diseases
more
  • Diseases
    1 with Blm mouse models; 1 with human BLM associations

Human Disease Mouse Models
      
IDs
View 7 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 6 alleles in 7 genetic backgrounds
    10 phenotypes from multigenic genotypes
    50 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12144 NCBI Gene Model | MGI Sequence Detail 80155 C57BL/6J ±  kb
    transcript NM_007550 RefSeq | MGI Sequence Detail 4869 C57BL/6  
    polypeptide O88700 UniProt | EBI | MGI Sequence Detail 1416 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • EC
    • InterPro Domains
      IPR032284 ATP-dependent DNA helicase RecQ, zinc-binding domain
      IPR012532 BDHCT
      IPR032439 Bloom syndrome protein, BDHCT-box associated domain
      IPR032437 Bloom syndrome protein, N-terminal domain
      IPR011545 DEAD/DEAH box helicase domain
      IPR004589 DNA helicase, ATP-dependent, RecQ type
      IPR002464 DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
      IPR001650 Helicase, C-terminal
      IPR014001 Helicase superfamily 1/2, ATP-binding domain
      IPR002121 HRDC domain
      IPR010997 HRDC-like superfamily
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR018982 RQC domain
      IPR036390 Winged helix DNA-binding domain superfamily
      IPR036388 Winged helix-like DNA-binding domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 107
      Genomic 1
      cDNA 104
      Primer pair 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 89
      Developmental Gene Expression 3
      Diseases 5
      Gene Ontology 20
      Phenotypes 50
    • Earliest
      J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
    • Latest
      J:260098 van Wietmarschen N, et al., BLM helicase suppresses recombination at G-quadruplex motifs in transcribed genes. Nat Commun. 2018 Jan 18;9(1):271

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory