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 22.09 cM	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
Alphafold	P17813 (Hs), Q63961 (Mm)
ChEMBL Target	CHEMBL3712885 (Hs)
Ensembl Gene	ENSG00000106991 (Hs), ENSMUSG00000026814 (Mm), ENSRNOG00000050190 (Rn)
Entrez Gene	2022 (Hs), 13805 (Mm), 497010 (Rn)
Human Protein Atlas	ENSG00000106991 (Hs)
KEGG Gene	hsa:2022 (Hs), mmu:13805 (Mm), rno:497010 (Rn)
OMIM	131195 (Hs)
Pharos	P17813 (Hs)
RefSeq Nucleotide	NM_001114753 (Hs), NM_001278138 (Hs), NM_000118 (Hs), NM_007932 (Mm), NM_001146348 (Mm), NP_001139820 (Mm), NM_001146350 (Mm), NM_001010968 (Rn)
RefSeq Protein	NP_000109 (Hs), NP_001108225 (Hs), NP_001265067 (Hs), NP_001139822 (Mm), NP_031958 (Mm), NP_001010968 (Rn)
UniProtKB	P17813 (Hs), Q63961 (Mm)
Wikipedia	ENG (Hs)

Download all structure-activity data for this target as a CSV file

Antibodies
Key to terms and symbols		Click column headers to sort
Antibody Sp. Action Value Parameter 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.