ENG, Official Symbol ENGprovided by HGNC Official Full Name endoglinprovided by HGNC Primary source HGNC:HGNC:3349 See related Ensembl:ENSG00000106991 MIM:131195; AllianceGenome:HGNC:3349 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as END; HHT1; ORW1 Summary 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] Expression Broad expression in spleen (RPKM 69.2), lung (RPKM 66.7) and 24 other tissues See more Orthologs mouse all