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. Alternati... See more...

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
  • Transforming Growth Factor Beta Receptor Type 3 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 III 2
  • BGCAN 3

External Ids for TGFBR3 Gene

Previous GeneCards Identifiers for TGFBR3 Gene

  • GC01M092604
  • GC01M091345
  • GC01M091485
  • GC01M091619
  • 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]

CIViC Summary for TGFBR3 Gene

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 p70S6K Signaling and Activation of cAMP-Dependent PKA. 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 Summary 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 Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J091882 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 760.9 +21.1 21135 5.2 ZNF785 CTCF ZBTB6 RBPJ POLR2A MIXL1 ZNF362 NFYC L3MBTL2 ZFP41 TGFBR3 lnc-SETSIP-3 GLMN HFM1 SNORA66 SNORD21 RPL5 RPAP2 ZNF644 KIAA1107
GH01J091878 Promoter/Enhancer 1 EPDnew dbSUPER 750.3 +28.2 28180 0.1 CREB1 ETV6 RELA ZBED1 IKZF1 IKZF2 PKNOX1 ZXDB DPF2 BCLAF1 TGFBR3 lnc-SETSIP-3 lnc-SETSIP-5
GH01J091906 Promoter 0.6 EPDnew 750.6 +0.0 10 0.1 POLR2A SUPT5H VEZF1 ZHX1 SP1 TGFBR3 lnc-SETSIP-3
GH01J092831 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.6 -927.2 -927222 4.5 ZNF785 SIN3A SP1 ZBTB40 CTCF SREBF1 MLX SMARCE1 RBPJ POLR2A RPL5 MTF2 SNORA66 SNORD21 CCDC18-AS1 GLMN DR1 RPAP2 KIAA1107 ENSG00000225505
GH01J091705 Enhancer 1 Ensembl dbSUPER 14.2 +200.0 200034 1 SMARCE1 L3MBTL2 ZKSCAN8 ZNF148 GTF2F1 ZFX MLLT1 BACH1 CDC5L ZNF639 ZNF644 TGFBR3 lnc-HFM1-3 piR-39781-003
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGFBR3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TGFBR3 gene promoter:
  • c-Myc
  • GCNF-2
  • Max1
  • MyoD
  • Pax-2
  • Pax-2a
  • Pax-2b
  • Sox9
  • Sp1

Genomic Locations for TGFBR3 Gene

Genomic Locations for TGFBR3 Gene
chr1:91,680,343-91,906,335
(GRCh38/hg38)
Size:
225,993 bases
Orientation:
Minus strand
chr1:92,145,900-92,371,892
(GRCh37/hg19)
Size:
225,993 bases
Orientation:
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:
    Q03167-TGBR3_HUMAN
    Recommended name:
    Transforming growth factor beta receptor type 3
    Protein Accession:
    Q03167
    Secondary Accessions:
    • A0AUW8
    • A8K5N0
    • B9EG88
    • Q5T2T4
    • Q5U731
    • Q9UGI2

    Protein attributes for TGFBR3 Gene

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

    Alternative splice isoforms for TGFBR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGFBR3 Gene

Post-translational modifications for TGFBR3 Gene

  • Extensively modified by glycosaminoglycan groups (GAG).
  • Glycosylation at Asn141, Thr369, Asn492, Ser534, Ser545, Asn571, Asn590, and Asn697
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for TGFBR3 Gene

Domains & Families for TGFBR3 Gene

Gene Families for TGFBR3 Gene

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

Protein Domains for TGFBR3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TGFBR3 Gene

GenScript: Design optimal peptide antigens:
  • Transforming growth factor beta receptor III (TGBR3_HUMAN)
genes like me logo Genes that share domains with TGFBR3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TGFBR3 Gene

Function for TGFBR3 Gene

Molecular function for TGFBR3 Gene

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

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 ISS,IEA 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

Human Phenotype Ontology for TGFBR3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TGFBR3 Gene

MGI Knock Outs for TGFBR3:

Animal Model Products

CRISPR Products

miRNA for TGFBR3 Gene

miRTarBase miRNAs that target TGFBR3

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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 4
cytosol 2
nucleus 1
endoplasmic reticulum 0
lysosome 0
golgi apparatus 0

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:0005615 extracellular space TAS,IEA 18184661
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IEA,ISS --
genes like me logo Genes that share ontologies with TGFBR3: view

Pathways & Interactions for TGFBR3 Gene

PathCards logo

SuperPathways for TGFBR3 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.62
.61
.60
.57
2 Apoptosis Pathway
3 PAK Pathway
.56
.56
.36
4 CREB Pathway
.68
.63
5 Sertoli-Sertoli Cell Junction Dynamics
.38
.36
genes like me logo Genes that share pathways with TGFBR3: view

Pathways by source for TGFBR3 Gene

29 Qiagen pathways for TGFBR3 Gene
  • Actin-Based Motility by Rho Family GTPases
  • Activation of PKC through GPCR
  • Antioxidant Action of Vitamin-C
  • Apoptotic Pathways in Synovial Fibroblasts
  • Breast Cancer Regulation by Stathmin1
2 Cell Signaling Technology pathways for TGFBR3 Gene

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

CRISPR Products

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: -
SP5:

Relevant External Links for TGFBR3 Gene

GeneLoc Exon Structure for
TGFBR3
ECgene alternative splicing isoforms for
TGFBR3

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, 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:

TGFBR3

SOURCE GeneReport for Unigene cluster for TGFBR3 Gene:

Hs.482390

Evidence on tissue expression from TISSUES for TGFBR3 Gene

  • Nervous system(4.4)
  • Blood(4.3)
  • Lung(2.3)
  • Muscle(2.1)
  • Heart(2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
Regions:
Head and neck:
  • brain
  • head
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia TGFBR3 33 32
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TGFBR3 33 32
  • 89.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TGFBR3 33 32
  • 88.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tgfbr3 17 33 32
  • 84.2 (n)
rat
(Rattus norvegicus)
Mammalia Tgfbr3 32
  • 83.67 (n)
oppossum
(Monodelphis domestica)
Mammalia TGFBR3 33
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 73 (a)
OneToMany
-- 33
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves TGFBR3 33 32
  • 70.01 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGFBR3 33
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgfbr3 32
  • 63.5 (n)
zebrafish
(Danio rerio)
Actinopterygii tgfbr3 33 32
  • 57.21 (n)
OneToOne
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

ENSEMBL:
Gene Tree for TGFBR3 (if available)
TreeFam:
Gene Tree for TGFBR3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TGFBR3: view image

Paralogs for TGFBR3 Gene

Paralogs for TGFBR3 Gene

(38) SIMAP similar genes for TGFBR3 Gene using alignment to 4 proteins:

  • TGBR3_HUMAN
  • E9PAW7_HUMAN
  • E9PKY4_HUMAN
  • E9PMG7_HUMAN
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
rs11466577 likely-benign, Thoracic aortic aneurysm and aortic dissection 91,734,979(-) G/A/T intron_variant
rs147485470 uncertain-significance, Connective tissue disorder 91,712,382(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs147586574 likely-benign, Thoracic aortic aneurysm and aortic dissection 91,861,477(-) T/C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs149079126 likely-benign, Connective tissue disorder 91,722,095(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs17883665 likely-benign, Thoracic aortic aneurysm and aortic dissection 91,734,891(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

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

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)
TGFBR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGFBR3

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
priapism
  • priapism, familial idiopathic
benign perivascular tumor
  • benign pericytic neoplasm
vogt-koyanagi-harada disease
  • harada's disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TGFBR3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 56
  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 23 43 56
  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 23 43 56
  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 23 56
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56

Products for TGFBR3 Gene

Sources for TGFBR3 Gene