Also known as AI528660, AI662476, CD105, Endo, S-endoglin, END, HHT1
Endoglin (ENG) is a type I membrane glycoprotein located on cell surfaces and is part of the TGF beta receptor complex. It is also commonly referred to as CD105, END, FLJ41744, HHT1, ORW and ORW1. It has a crucial role in angiogenesis, therefore, making it an important protein for tumor growth, survival and metastasis of cancer cells to other locations in the body.
Gene data
ENG- Name
- endoglin
- Type
- protein-coding
- Position
- 127,811,130–127,855,232 (−)
- Aliases
- END, HHT1, ORW1
- Ensembl
- ENSG00000106991
- RefSeq RNA
- NM_000118.4, NM_001114753.3, NM_001278138.2, NM_001406715.1
- RefSeq protein
- NP_000109.1, NP_001108225.1, NP_001265067.1, NP_001393644.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
endoglin
- Symbol
- ENG
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 9:127,811,130-127,855,232
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 92
- exact match
- identifiers.org/ncbigene/2022
- genomic end
- 127854658
- genomic start
- 127815013
- cytogenetic location
- 9q34.11
via Wikidata · CC0
~11 min read
Article
12 sectionsContents
- Gene and expression
- Structure
- Interactions
- Function
- Clinical significance
- Mutations causing HHT
- Role in cancer
- Prostate cancer and endoglin expression
- As a drug target
- See also
- References
- External links
Endoglin (ENG) is a type I membrane glycoprotein located on cell surfaces and is part of the TGF beta receptor complex. It is also commonly referred to as CD105, END, FLJ41744, HHT1, ORW and ORW1. It has a crucial role in angiogenesis, therefore, making it an important protein for tumor growth, survival and metastasis of cancer cells to other locations in the body.
== Gene and expression ==