endoglin (CD105)

Target id: 2895

Nomenclature: endoglin (CD105)

Family: CD molecules

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

   GtoImmuPdb view: OFF :     Currently no data for endoglin (CD105) in GtoImmuPdb

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 1 658 9q34.11 ENG endoglin
Mouse 1 653 2 B Eng endoglin
Rat 1 650 3 Eng endoglin
Gene and Protein Information Comments
Three transcript variants are identified for the human ENG gene, producing three protein isoforms. The table shows details for the longest isoform (L-endoglin). Isoform 2 (S-endoglin, 625aa) has a shorter and distinct C-terminus compared to isoform 1 and isoform 3 (476aa) has a shorter N-terminus compared to isoform 1. Similarly for the mouse, three transcript variants and protein isoforms have been reported.
Previous and Unofficial Names
CD105 | END | HHT1 | Osler-Rendu-Weber syndrome 1 (ORW1)
Database Links
Ensembl Gene
Entrez Gene
GenitoUrinary Development Molecular Anatomy Project
Human Protein Atlas
KEGG Gene
OMIM
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia

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Antibodies
Key to terms and symbols Click column headers to sort
Antibody Sp. Action Affinity Units Reference
carotuximab Hs Binding >9.0 pKd 1
pKd >9.0 (Kd <1x10-9 M) [1]
Clinically-Relevant Mutations and Pathophysiology
Disease:  Hereditary hemorrhagic telangiectasia type 1 (HHT1)
Description: An autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Mucosal involvement leads to complications such as epistaxis and gastrointestinal bleeding and visceral tissues involved include the lungs, liver, and brain. HHT1 is caused by heterozygous mutation in the gene encoding endoglin (ENG) on chromosome 9q34.
Synonyms: hemorrhagic telangiectasia type 1 [OMIM: 187300]
Osler hemorrhagic telangiectasia syndrome [OMIM: 187300]
Osler-Rendu-Weber disease [OMIM: 187300]
OMIM: 187300
Orphanet: ORPHA774
General Comments
Endoglin is a type I membrane glycoprotein. It is part of the TGFβ receptor complex. As endoglin appears to play an important role in tumour neo-angiogenesis, growth and metastasis, it is being investigated as a novel oncology drug target. For example, carotuximab is an anti-endoglin mAb in clinical development.

References

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1. Theuer C, Vasquez M. (2012) Endoglin antibodies. Patent number: US8221753 B2. Assignee: Tracon Pharmaceuticals, Inc.. Priority date: 30/09/2009. Publication date: 17/07/2012.

How to cite this page

CD molecules: endoglin (CD105). Last modified on 20/03/2017. Accessed on 20/10/2017. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2895.