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    ENG endoglin [ Homo sapiens (human) ]

    Gene ID: 2022, updated on 24-Dec-2017
    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
    Location:
    9q34.11
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 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 phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter 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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 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)
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