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    ENG endoglin [ Homo sapiens (human) ]

    Gene ID: 2022, updated on 19-Jul-2021

    Summary

    Official Symbol
    ENGprovided by HGNC
    Official Full Name
    endoglinprovided by HGNC
    Primary source
    HGNC:HGNC:3349
    See related
    Ensembl:ENSG00000106991 MIM:131195
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ENG in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (127815012..127854773, complement)
    105.20201022 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 Sharpr-MPRA regulatory region 2041 Neighboring gene cyclin dependent kinase 9 Neighboring gene folylpolyglutamate synthase Neighboring gene uncharacterized LOC102723566 Neighboring gene uncharacterized LOC105379841 Neighboring gene RNA, 5S ribosomal pseudogene 296 Neighboring gene CRISPRi-validated cis-regulatory element chr9.2869 Neighboring gene microRNA 4672 Neighboring gene adenylate kinase 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    GeneReviews: Not available
    Hereditary hemorrhagic telangiectasia type 1 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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 
    enables activin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables coreceptor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables galactose binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glycosaminoglycan binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables glycosaminoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glycosaminoglycan binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to transforming growth factor beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta-activated receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transmembrane signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables type I transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables type I transforming growth factor beta receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables type II transforming growth factor beta receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables type II transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables type II transforming growth factor beta receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in atrial cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in atrioventricular canal morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in branching involved in blood vessel morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cardiac atrium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell migration involved in endocardial cushion formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system vasculogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in dorsal aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in endocardial cushion to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial to mesenchymal transition IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in extracellular matrix constituent secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in outflow tract septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of collagen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein kinase B signaling IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of vascular associated smooth muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in regulation of cardiac muscle cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT involved_in regulation of cell proliferation involved in heart morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to corticosteroid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smooth muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    NOT involved_in sprouting angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vascular associated smooth muscle cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vasculogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in vasculogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in venous blood vessel morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in ventricular trabecula myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endothelial microparticle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion HDA PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    part_of receptor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    endoglin
    Names
    CD105 antigen

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, ENST00000344849.4
      Conserved Domains (1) summary
      cl27758
      Location:363493
      Zona_pellucida; Zona pellucida-like domain
    2. NM_001114753.3NP_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, X72012
      Consensus CDS
      CCDS48029.1
      UniProtKB/Swiss-Prot
      P17813
      UniProtKB/TrEMBL
      A0A024R878, Q96CG0
      Related
      ENSP00000362299.4, ENST00000373203.9
      Conserved Domains (1) summary
      cl27758
      Location:363493
      Zona_pellucida; Zona pellucida-like domain
    3. NM_001278138.2NP_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
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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