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Aliases for TGFBR3 Gene

Aliases for TGFBR3 Gene

  • Transforming Growth Factor Beta Receptor 3 2 3 5
  • Transforming Growth Factor Beta Receptor III 2 3 4
  • TGF-Beta Receptor Type III 3 4
  • TGF-Beta Receptor Type 3 3 4
  • Betaglycan Proteoglycan 2 3
  • Betaglycan 3 4
  • TGFR-3 3 4
  • Transforming Growth Factor Beta Receptor Type 3 3
  • Transforming Growth Factor, Beta Receptor III 2
  • BGCAN 3

External Ids for TGFBR3 Gene

Previous GeneCards Identifiers for TGFBR3 Gene

  • GC01M092604
  • GC01M091345
  • GC01M091485
  • GC01M091860
  • GC01M092145
  • GC01M090263

Summaries for TGFBR3 Gene

Entrez Gene Summary for TGFBR3 Gene

  • 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]

GeneCards Summary for TGFBR3 Gene

TGFBR3 (Transforming Growth Factor Beta Receptor 3) is a Protein Coding gene. Diseases associated with TGFBR3 include Familial Cerebral Saccular Aneurysm and Intermediate Uveitis. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and PAK Pathway. Gene Ontology (GO) annotations related to this gene include heparin binding and SMAD binding. An important paralog of this gene is ENG.

UniProtKB/Swiss-Prot for TGFBR3 Gene

  • Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the signaling receptors.

Gene Wiki entry for TGFBR3 Gene

Additional gene information for TGFBR3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGFBR3 Gene

Genomics for TGFBR3 Gene

GeneHancer (GH) Regulatory Elements for TGFBR3 Gene

Promoters and enhancers for TGFBR3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I091882 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 560.9 +21.3 21296 4.4 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF213 TGFBR3 HFM1 RPAP2 SNORA66 SNORD21 RPL5 GLMN ENSG00000189195 ZNF644 GC01M091855
GH01I091906 Promoter 0.9 EPDnew 550.8 +0.0 10 0.1 SP1 MITF POLR2B ARHGAP35 ZNF184 POLR2A VEZF1 SUPT5H TGFBR3 GC01M091855
GH01I092831 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.9 -927.1 -927094 4.2 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 RPL5 GC01P092832 SNORA66 SNORD21 CCDC18-AS1 MTF2 MIG7 DR1 GLMN RPAP2
GH01I091729 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.9 +174.6 174628 4.6 HDGF FOXA2 PKNOX1 ARNT FEZF1 ZNF2 ZNF766 CBX5 ZNF548 FOS ZNF644 TGFBR3 GC01M091707 GC01M091774
GH01I091712 Enhancer 1.3 Ensembl ENCODE dbSUPER 4.4 +192.4 192444 3.7 ATF1 TCF12 ZNF766 ATF7 RUNX3 JUNB ZNF592 MEF2D GMEB1 SMARCA4 TGFBR3 GC01M091707 GC01M091774
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TGFBR3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGFBR3 gene promoter:

Genomic Locations for TGFBR3 Gene

Genomic Locations for TGFBR3 Gene
225,993 bases
Minus strand

Genomic View for TGFBR3 Gene

Genes around TGFBR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGFBR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGFBR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGFBR3 Gene

Proteins for TGFBR3 Gene

  • Protein details for TGFBR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transforming growth factor beta receptor type 3
    Protein Accession:
    Secondary Accessions:
    • A0AUW8
    • A8K5N0
    • B9EG88
    • Q5T2T4
    • Q5U731
    • Q9UGI2

    Protein attributes for TGFBR3 Gene

    851 amino acids
    Molecular mass:
    93499 Da
    Quaternary structure:
    • Interacts with TCTEX1D4.
    • Sequence=AAA67061.1; Type=Frameshift; Positions=70, 73, 349, 350; Evidence={ECO:0000305};

    Alternative splice isoforms for TGFBR3 Gene


neXtProt entry for TGFBR3 Gene

Post-translational modifications for TGFBR3 Gene

  • Extensively modified by glycosaminoglycan groups (GAG).
  • Glycosylation at posLast=141141, isoforms=369, isoforms=2492, posLast=534534, posLast=545545, posLast=571571, posLast=590590, and posLast=697697

Antibody Products

  • R&D Systems Antibodies for TGFBR3 (TGF-beta RIII)
  • Cell Signaling Technology (CST) Antibodies for TGFBR3 (TGFBR3)

No data available for DME Specific Peptides for TGFBR3 Gene

Domains & Families for TGFBR3 Gene

Gene Families for TGFBR3 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for TGFBR3 Gene


Suggested Antigen Peptide Sequences for TGFBR3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TGFBR3: view

No data available for UniProtKB/Swiss-Prot for TGFBR3 Gene

Function for TGFBR3 Gene

Molecular function for TGFBR3 Gene

GENATLAS Biochemistry:
transforming growth factor beta,receptor type III
UniProtKB/Swiss-Prot Function:
Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the signaling receptors.

Phenotypes From GWAS Catalog for TGFBR3 Gene

Gene Ontology (GO) - Molecular Function for TGFBR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005024 transforming growth factor beta-activated receptor activity IDA 12958365
GO:0005114 type II transforming growth factor beta receptor binding IDA 11157754
GO:0005160 transforming growth factor beta receptor binding IEA,ISS 1333192
GO:0005515 contributes_to protein binding IPI 10746731
GO:0005539 glycosaminoglycan binding TAS 1333192
genes like me logo Genes that share ontologies with TGFBR3: view
genes like me logo Genes that share phenotypes with TGFBR3: view

Animal Models for TGFBR3 Gene

MGI Knock Outs for TGFBR3:

miRNA for TGFBR3 Gene

miRTarBase miRNAs that target TGFBR3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TGFBR3 Gene

Localization for TGFBR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFBR3 Gene

Secreted. Secreted, extracellular space. Cell membrane; Single-pass type I membrane protein. Note=Exists both as a membrane-bound form and as soluble form in serum and in the extracellular matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGFBR3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TGFBR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IEA,TAS 18184661
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with TGFBR3: view

Pathways & Interactions for TGFBR3 Gene

genes like me logo Genes that share pathways with TGFBR3: view

SIGNOR curated interactions for TGFBR3 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TGFBR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0001837 epithelial to mesenchymal transition IDA 18184661
GO:0001889 liver development ISS --
GO:0003007 heart morphogenesis ISS --
GO:0003150 muscular septum morphogenesis ISS --
genes like me logo Genes that share ontologies with TGFBR3: view

Drugs & Compounds for TGFBR3 Gene

(4) Drugs for TGFBR3 Gene - From: PharmGKB, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
antidepressants Pharma 0
TG-C Pharma 0

(1) Additional Compounds for TGFBR3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TGFBR3: view

Transcripts for TGFBR3 Gene

Unigene Clusters for TGFBR3 Gene

Transforming growth factor, beta receptor III:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TGFBR3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - -
SP2: - -
SP3: -
SP4: -

Relevant External Links for TGFBR3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TGFBR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TGFBR3 Gene

Protein differential expression in normal tissues from HIPED for TGFBR3 Gene

This gene is overexpressed in Serum (22.4), Urine (9.3), Urinary Bladder (8.8), and Ovary (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TGFBR3 Gene

Protein tissue co-expression partners for TGFBR3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TGFBR3 Gene:


SOURCE GeneReport for Unigene cluster for TGFBR3 Gene:


Evidence on tissue expression from TISSUES for TGFBR3 Gene

  • Nervous system(4.4)
  • Blood(4.3)
  • Lung(2.2)
  • Muscle(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TGFBR3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • cardiovascular
  • nervous
Head and neck:
  • brain
  • head
  • blood vessel
genes like me logo Genes that share expression patterns with TGFBR3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TGFBR3 Gene

Orthologs for TGFBR3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TGFBR3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TGFBR3 33 34
  • 99.26 (n)
(Canis familiaris)
Mammalia TGFBR3 33 34
  • 89.8 (n)
(Bos Taurus)
Mammalia TGFBR3 33 34
  • 88.5 (n)
(Mus musculus)
Mammalia Tgfbr3 33 16 34
  • 84.2 (n)
(Rattus norvegicus)
Mammalia Tgfbr3 33
  • 83.67 (n)
(Monodelphis domestica)
Mammalia TGFBR3 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 73 (a)
-- 34
  • 59 (a)
(Gallus gallus)
Aves TGFBR3 33 34
  • 70.01 (n)
(Anolis carolinensis)
Reptilia TGFBR3 34
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tgfbr3 33
  • 63.5 (n)
(Danio rerio)
Actinopterygii tgfbr3 33 34
  • 57.21 (n)
Species where no ortholog for TGFBR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TGFBR3 Gene

Gene Tree for TGFBR3 (if available)
Gene Tree for TGFBR3 (if available)

Paralogs for TGFBR3 Gene

Paralogs for TGFBR3 Gene

genes like me logo Genes that share paralogs with TGFBR3: view

Variants for TGFBR3 Gene

Sequence variations from dbSNP and Humsavar for TGFBR3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs193920827 uncertain-significance, Malignant tumor of prostate 91,683,776(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000017637 -- 91,697,457(-) G/A intron_variant
rs1000043196 -- 91,894,899(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000058247 -- 91,755,884(-) A/G intron_variant
rs1000069414 -- 91,843,409(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TGFBR3 Gene

Variant ID Type Subtype PubMed ID
nsv830581 CNV loss 17160897
nsv823520 CNV loss 20364138
nsv528991 CNV loss 19592680
nsv525320 CNV loss 19592680
nsv524845 CNV gain 19592680
nsv519291 CNV loss 19592680
nsv478843 CNV novel sequence insertion 20440878
nsv476538 CNV novel sequence insertion 20440878
nsv474292 CNV novel sequence insertion 20440878
nsv462517 CNV gain 19166990
nsv1119703 CNV deletion 24896259
nsv1006318 CNV gain 25217958
nsv1002730 CNV gain 25217958
esv989733 CNV deletion 20482838
esv988308 CNV deletion 20482838
esv3586797 CNV loss 21293372
esv3586795 CNV loss 21293372
esv3582360 CNV gain 25503493
esv3578010 CNV loss 25503493
esv3578009 CNV loss 25503493
esv3565760 CNV deletion 23714750
esv2851013 CNV deletion 24192839
esv2763581 CNV gain 21179565
esv2750842 CNV gain 17911159
esv2714795 CNV deletion 23290073
esv2714684 CNV deletion 23290073
esv2661714 CNV deletion 23128226
esv25877 CNV loss 19812545
dgv367n54 CNV loss 21841781
dgv366n54 CNV loss 21841781
dgv365n54 CNV gain 21841781
dgv125n106 CNV deletion 24896259

Variation tolerance for TGFBR3 Gene

Residual Variation Intolerance Score: 67.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.24; 81.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TGFBR3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGFBR3 Gene

Disorders for TGFBR3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for TGFBR3 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
familial cerebral saccular aneurysm
  • familial berry aneurysm
intermediate uveitis
  • chronic cyclitis
eisenmenger syndrome
  • eisenmenger complex
  • priapism, familial idiopathic
vogt-koyanagi-harada disease
  • harada's disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TGFBR3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TGFBR3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TGFBR3 Gene

Publications for TGFBR3 Gene

  1. Molecular cloning and characterization of the human and porcine transforming growth factor-beta type III receptors. (PMID: 1333192) Morén A … Miyazono K (Biochemical and biophysical research communications 1992) 2 3 4 22 58
  2. Transforming growth factor-beta receptor-3 is associated with pulmonary emphysema. (PMID: 19131638) Hersh CP … ICGN Investigators (American journal of respiratory cell and molecular biology 2009) 3 22 44 58
  3. Mutational analysis of the betaglycan gene-coding region in susceptibility for ovarian failure. (PMID: 16613887) Dixit H … Singh L (Human reproduction (Oxford, England) 2006) 3 22 44 58
  4. Eleven single nucleotide polymorphisms and one triple nucleotide insertion of the human TGF-beta III receptor gene. (PMID: 10944857) Zippert R … Schunkert H (Journal of human genetics 2000) 3 4 22 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for TGFBR3 Gene

Sources for TGFBR3 Gene

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