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Gene: ENG (endoglin) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on ENG
Alliance Gene
NCBI 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



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