help  | about  | cite  | software

Gene : BLM Homo sapiens

Name  ? BLM RecQ like helicase Cytological Location  15q26.1
Brief Description  BLM RecQ like helicase
Description  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]
  • synonyms:
  • Bloom syndrome,
  • RECQ2,
  • HGNC:1058,
  • RECQL3,
  • Bloom syndrome RecQ like helicase,
  • BS,
  • BLM,
  • RECQL3,
  • NM_000057,
  • MGRISCE1,
  • RECQL2,
  • OTTHUMG00000149834,
  • BS,
  • U39817,
  • uc002bpr.5,
  • RECQ2
  • identifiers:
  • 641,
  • ENSG00000197299,
  • BLM

Genome feature

Region: gene ? Length: 98821  
Location: 15:90717346-90816166 Cyto location: 15q26.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

322 SN Ps

5 Cross References

19 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results