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Gene : BLM Homo sapiens

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

Genome feature

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


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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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

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Interactions

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

322 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results