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Gene: ENG (endoglin) Homo sapiens
Symbol: ENG
Name: endoglin
Description: Exhibits several functions, including galactose binding activity; protein homodimerization activity; and transforming growth factor beta receptor binding activity. Contributes to BMP binding activity. Involved in several processes, including central nervous system vasculogenesis; regulation of transcription by RNA polymerase II; and regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Localizes to several cellular components, including the external side of plasma membrane; extracellular space; and nuclear body. Implicated in arteriovenous malformation; arteriovenous malformations of the brain; breast cancer; hereditary hemorrhagic telangiectasia; and intracranial aneurysm. Biomarker of several diseases, including artery disease (multiple); clear cell renal cell carcinoma; diabetic retinopathy; hematologic cancer (multiple); and secondary hyperparathyroidism.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD105; CD105 antigen; END; FLJ41744; HHT1; ORW; ORW1
Mus musculus (house mouse) : Eng (endoglin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Eng (endoglin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Eng (endoglin)
Pan paniscus (bonobo/pygmy chimpanzee) : ENG (endoglin)
Canis lupus familiaris (dog) : ENG (endoglin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Eng (endoglin)
Sus scrofa (pig) : ENG (endoglin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh389127,815,012 - 127,854,773 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379130,577,291 - 130,617,052 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,617,115 - 129,656,805 (-)NCBINCBI36hg18NCBI36
Build 349127,656,849 - 127,696,538NCBI
Celera9101,228,133 - 101,267,888 (-)NCBI
Cytogenetic Map9q34.11NCBI
HuRef9100,194,111 - 100,234,515 (-)NCBIHuRef
CHM1_19130,728,823 - 130,768,983 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on ENG
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1351093
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.