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    TGFBR3 transforming growth factor beta receptor 3 [ Homo sapiens (human) ]

    Gene ID: 7049, updated on 3-Sep-2017
    Official Symbol
    TGFBR3provided by HGNC
    Official Full Name
    transforming growth factor beta receptor 3provided by HGNC
    Primary source
    HGNC:HGNC:11774
    See related
    Ensembl:ENSG00000069702 MIM:600742; Vega:OTTHUMG00000010097
    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
    BGCAN; betaglycan
    Summary
    This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]
    Orthologs
    Location:
    1p22.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (91680343..91906002, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (92145900..92371559, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L39 pseudogene 13 Neighboring gene heat shock protein 90 beta family member 3, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 653, pseudogene Neighboring gene bromodomain testis associated Neighboring gene epoxide hydrolase 4

    • 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?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of optic disc parameters.
    NHGRI GWA Catalog
    Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.
    NHGRI GWA Catalog
    Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.
    NHGRI GWA Catalog
    Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu Antibodies against TGF-beta or a TGF-beta receptor inhibitor SB431452 reverse HIV-1 Vpu-mediated profibrogenic activation of LX2 cells, suggesting that TGF-beta mediates these effects PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    PDZ domain binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    SMAD binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    activin binding IEA
    Inferred from Electronic Annotation
    more info
     
    coreceptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibroblast growth factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    glycosaminoglycan binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glycosaminoglycan binding TAS
    Traceable Author Statement
    more info
    PubMed 
    heparin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transforming growth factor beta binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transforming growth factor beta receptor activity, type III IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    transforming growth factor beta-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    type II transforming growth factor beta receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell growth ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    definitive erythrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    definitive hemopoiesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epicardium-derived cardiac fibroblast cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heart morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart trabecula formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart trabecula morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    liver development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cellular component movement IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    palate development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pathway-restricted SMAD protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    NOT regulation of ERK1 and ERK2 cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT regulation of JNK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    response to follicle-stimulating hormone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to luteinizing hormone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to prostaglandin E IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta receptor complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vasculogenesis involved in coronary vascular morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular compact myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space TAS
    Traceable Author Statement
    more info
    PubMed 
    inhibin-betaglycan-ActRII complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    transforming growth factor beta receptor type 3
    Names
    TGF-beta receptor type 3
    TGF-beta receptor type III
    TGFR-3
    betaglycan proteoglycan
    transforming growth factor beta receptor III

    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_027757.1 RefSeqGene

      Range
      5001..230660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195683.1NP_001182612.1  transforming growth factor beta receptor type 3 isoform b precursor

      See identical proteins and their annotated locations for NP_001182612.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a. Both variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AC099334, AI090023, AK225799, AK291345, BC136295, DA724452, DA854401, DR002506
      Consensus CDS
      CCDS55614.1
      UniProtKB/Swiss-Prot
      Q03167
      UniProtKB/TrEMBL
      A0A0A8KWK3
      Related
      ENSP00000432638.1, OTTHUMP00000011807, ENST00000465892.6, OTTHUMT00000027973
      Conserved Domains (2) summary
      smart00241
      Location:454724
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:566723
      Zona_pellucida; Zona pellucida-like domain
    2. NM_001195684.1NP_001182613.1  transforming growth factor beta receptor type 3 isoform b precursor

      See identical proteins and their annotated locations for NP_001182613.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a. Both variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AC099334, AI090023, AK225799, AK291345, BC136295, DA862176, DR002506
      Consensus CDS
      CCDS55614.1
      UniProtKB/Swiss-Prot
      Q03167
      UniProtKB/TrEMBL
      A0A0A8KWK3
      Related
      ENSP00000359426.2, OTTHUMP00000011787, ENST00000370399.6, OTTHUMT00000027926
      Conserved Domains (2) summary
      smart00241
      Location:454724
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:566723
      Zona_pellucida; Zona pellucida-like domain
    3. NM_003243.4NP_003234.2  transforming growth factor beta receptor type 3 isoform a precursor

      See identical proteins and their annotated locations for NP_003234.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC099334, AI090023, AK291345, BC136295, DA724452, DA854401, DR002506
      Consensus CDS
      CCDS30770.1
      UniProtKB/Swiss-Prot
      Q03167
      Related
      ENSP00000212355.4, ENST00000212355.8
      Conserved Domains (2) summary
      smart00241
      Location:455725
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:567724
      Zona_pellucida; Zona pellucida-like domain

    RNA

    1. NR_036634.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC099334, AI090023, AK291345, BC136295, BC143869, DA724452, DA854401, DR002506

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      91680343..91906002 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710867.2XP_006710930.1  transforming growth factor beta receptor type 3 isoform X1

      See identical proteins and their annotated locations for XP_006710930.1

      UniProtKB/Swiss-Prot
      Q03167
      Conserved Domains (2) summary
      smart00241
      Location:455725
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:567724
      Zona_pellucida; Zona pellucida-like domain
    2. XM_006710868.2XP_006710931.1  transforming growth factor beta receptor type 3 isoform X1

      See identical proteins and their annotated locations for XP_006710931.1

      UniProtKB/Swiss-Prot
      Q03167
      Related
      ENSP00000436127.1, OTTHUMP00000228692, ENST00000525962.5, OTTHUMT00000382308
      Conserved Domains (2) summary
      smart00241
      Location:455725
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:567724
      Zona_pellucida; Zona pellucida-like domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      92261010..92486411 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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