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Gene : ENG Homo sapiens

Name  ? endoglin Cytological Location  9q34.11
Brief Description  endoglin
Description  This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
  • synonyms:
  • ORW,
  • Osler-Rendu-Weber syndrome 1,
  • END,
  • HHT1,
  • HHT1,
  • CD105,
  • AF035753,
  • uc004bsk.6,
  • NM_000118,
  • ORW1,
  • END,
  • OTTHUMG00000020723,
  • HGNC:3349,
  • ORW1,
  • ENG
  • identifiers:
  • 2022,
  • ENSG00000106991,
  • ENG

Genome feature

Region: gene ? Length: 39762  
Location: 9:127815012-127854773 reverse strand Cyto location: 9q34.11


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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

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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]

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Expression

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Other

0 Pathways

71 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results