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ENG endoglin [ Homo sapiens (human) ]

Gene ID: 2022, updated on 3-Jun-2018
Official Symbol
ENGprovided by HGNC
Official Full Name
endoglinprovided by HGNC
Primary source
HGNC:HGNC:3349
See related
Ensembl:ENSG00000106991 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]
Expression
Broad expression in spleen (RPKM 69.2), lung (RPKM 66.7) and 24 other tissues See more
Orthologs
See ENG in Genome Data Viewer
Location:
9q34.11
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 microRNA 3960 Neighboring gene microRNA 2861 Neighboring gene cyclin dependent kinase 9 Neighboring gene uncharacterized LOC102723566 Neighboring gene folylpolyglutamate synthase Neighboring gene uncharacterized LOC105379841 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

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Osler hemorrhagic telangiectasia syndrome Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2016-12-07)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2016-12-07)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study of the metabolic syndrome in Indian Asian men.
NHGRI GWA Catalog

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 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
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 
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 
atrial cardiac muscle tissue morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
atrioventricular canal morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
bone development IEA
Inferred from Electronic Annotation
more info
 
branching involved in blood vessel morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cardiac atrium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac ventricle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell migration involved in endocardial cushion formation IEA
Inferred from Electronic Annotation
more info
 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
central nervous system vasculogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
chronological cell aging IEA
Inferred from Electronic Annotation
more info
 
dorsal aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardial cushion morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT endocardial cushion to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix constituent secretion IEA
Inferred from Electronic Annotation
more info
 
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 gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
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 collagen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein kinase B signaling IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of vascular smooth muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT regulation of cardiac muscle cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT regulation of cell proliferation involved in heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
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 corticosteroid IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to transforming growth factor beta IEA
Inferred from Electronic Annotation
more info
 
smooth muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
NOT sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
vascular smooth muscle cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
vasculogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
venous blood vessel morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
ventricular trabecula myocardium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
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 HDA PubMed 
receptor complex IPI
Inferred from Physical Interaction
more info
PubMed 
transforming growth factor beta receptor 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
    ENSP00000341917.3, OTTHUMP00000022221, ENST00000344849.4, OTTHUMT00000054312
    Conserved Domains (1) summary
    cl27758
    Location:363493
    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
    ENSP00000362299.4, OTTHUMP00000022222, ENST00000373203.8, OTTHUMT00000054313
    Conserved Domains (1) summary
    cl27758
    Location:363493
    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
    ENSP00000479015.1, ENST00000480266.5
    Conserved Domains (1) summary
    cl27758
    Location:181311
    Zona_pellucida; Zona pellucida-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

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