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ENG endoglin [ Homo sapiens (human) ]

Gene ID: 2022, updated on 29-May-2016
Official Symbol
ENGprovided by HGNC
Official Full Name
endoglinprovided by HGNC
Primary source
HGNC:HGNC:3349
See related
Ensembl:ENSG00000106991 HPRD:00565; MIM:131195; Vega:OTTHUMG00000020723
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]
Orthologs
Location:
9q34.11
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (127815012..127854773, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130577291..130617052, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene cyclin-dependent kinase 9 Neighboring gene uncharacterized LOC102723566 Neighboring gene folylpolyglutamate synthase Neighboring gene RNA, 5S ribosomal pseudogene 296 Neighboring gene microRNA 4672 Neighboring gene adenylate kinase 1 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of endoglin (ENG) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ41744

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to BMP binding IPI
Inferred from Physical Interaction
more info
PubMed 
activin binding TAS
Traceable Author Statement
more info
PubMed 
galactose binding IDA
Inferred from Direct Assay
more info
PubMed 
glycosaminoglycan binding IDA
Inferred from Direct Assay
more info
PubMed 
glycosaminoglycan binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
transforming growth factor beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to transforming growth factor beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
transforming growth factor beta receptor, cytoplasmic mediator activity IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta-activated receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane signaling receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
type I transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
type I transforming growth factor beta receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
type II transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
type II transforming growth factor beta receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway TAS
Traceable Author Statement
more info
PubMed 
artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell migration involved in endocardial cushion formation IEA
Inferred from Electronic Annotation
more info
 
cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
central nervous system vasculogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
chronological cell aging IEA
Inferred from Electronic Annotation
more info
 
chronological cell aging IEP
Inferred from Expression Pattern
more info
PubMed 
detection of hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart looping ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of nitric-oxide synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of pathway-restricted SMAD protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
patterning of blood vessels ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of systemic arterial blood pressure IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell adhesion TAS
Traceable Author Statement
more info
PubMed 
regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
regulation of phosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
smooth muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
NOT transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
vasculogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
venous blood vessel morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
wound healing IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
endothelial microparticle IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
receptor complex IPI
Inferred from Physical Interaction
more info
PubMed 
transforming growth factor beta receptor homodimeric complex IC
Inferred by Curator
more info
PubMed 
Preferred Names
endoglin
Names
CD105 antigen

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009551.1 RefSeqGene

    Range
    4996..44757
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_589

mRNA and Protein(s)

  1. NM_000118.3NP_000109.1  endoglin isoform 2 precursor

    See identical proteins and their annotated locations for NP_000109.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional segment in the 3' coding region which includes an earlier stop codon, compared to variant 1. The resulting isoform (2, also known as S-endoglin) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL162586, DB079257, X72012
    Consensus CDS
    CCDS6880.1
    UniProtKB/Swiss-Prot
    P17813
    UniProtKB/TrEMBL
    Q5T9B9
    Related
    ENSP00000341917, OTTHUMP00000022221, ENST00000344849, OTTHUMT00000054312
    Conserved Domains (1) summary
    pfam00100
    Location:362557
    Zona_pellucida; Zona pellucida-like domain
  2. NM_001114753.2NP_001108225.1  endoglin isoform 1 precursor

    See identical proteins and their annotated locations for NP_001108225.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1, also known as L-endoglin).
    Source sequence(s)
    BC014271, DB079257, J05481, X72012
    Consensus CDS
    CCDS48029.1
    UniProtKB/Swiss-Prot
    P17813
    UniProtKB/TrEMBL
    A0A024R878, Q96CG0
    Related
    ENSP00000362299, OTTHUMP00000022222, ENST00000373203, OTTHUMT00000054313
    Conserved Domains (1) summary
    pfam00100
    Location:362557
    Zona_pellucida; Zona pellucida-like domain
  3. NM_001278138.1NP_001265067.1  endoglin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK301171, BC014271, J05481
    Consensus CDS
    CCDS75906.1
    UniProtKB/Swiss-Prot
    P17813
    UniProtKB/TrEMBL
    B7Z6Y5, F5GX88, Q96CG0
    Related
    ENSP00000479015, ENST00000480266
    Conserved Domains (1) summary
    pfam00100
    Location:180375
    Zona_pellucida; Zona pellucida-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

    Range
    127815012..127854773 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    130728823..130768983 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)