ENG

GENE INFORMATION

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Gene name

ENG (HGNC Symbol)

Synonyms

CD105, END, HHT1, ORW, ORW1

Description

endoglin (HGNC Symbol)

Entrez gene 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]

Chromosome

9 (Chromosome progress)

Cytoband

q34.11

Chromosome location (bp)

130577291 - 130617035

Ensembl

ENSG00000106991 (version 73.37)

Entrez gene

2022

UniProt

P17813 (UniProt - Evidence at protein level)

neXtProt

NX_P17813

Antibodypedia

ENG antibodies
 

PROTEIN VIEW

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ENG-001
 
ENG-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ENG-001 ENSP00000341917
ENST00000344849
P17813
Show all »
Show » Show » 625 67.5 Yes 1
ENG-002 ENSP00000362299
ENST00000373203
P17813
Show all »
Show » Show » 658 70.6 Yes 1