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

Gene ID: 7049, updated on 15-Apr-2019

Summary

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
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]
Expression
Ubiquitous expression in fat (RPKM 40.0), ovary (RPKM 37.4) and 23 other tissues See more
Orthologs

Genomic context

See TGFBR3 in Genome Data Viewer
Location:
1p22.1
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 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
 
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 
secondary palate development ISS
Inferred from Sequence or Structural Similarity
more info
 
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 HDA PubMed 
extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
extracellular space HDA 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
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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, ENST00000465892.6
    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, ENST00000370399.6
    Conserved Domains (2) summary
    smart00241
    Location:454724
    ZP; Zona pellucida (ZP) domain
    pfam00100
    Location:566723
    Zona_pellucida; Zona pellucida-like domain
  3. NM_003243.5NP_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, DA854401, DR002506
    Consensus CDS
    CCDS30770.1
    UniProtKB/Swiss-Prot
    Q03167
    Related
    ENSP00000212355.4, ENST00000212355.9
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 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
    Related
    ENSP00000436127.1, ENST00000525962.5
    Conserved Domains (2) summary
    smart00241
    Location:455725
    ZP; Zona pellucida (ZP) domain
    pfam00100
    Location:567724
    Zona_pellucida; Zona pellucida-like domain
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