TGFBR3
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Also known as betaglycanBGCAN
Summary
TGFBR3 (transforming growth factor beta receptor 3, HGNC:11774) is a protein-coding gene on chromosome 1p22.1, encoding Transforming growth factor beta receptor type 3 (Q03167). Cell surface receptor that regulates diverse cellular processes including cell proliferation, differentiation, migration, and apoptosis.
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.
Source: NCBI Gene 7049 — RefSeq curated summary.
At a glance
- GWAS associations: 38
- Clinical variants (ClinVar): 144 total
- Phenotypes (HPO): 15
- MANE Select transcript:
NM_003243
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11774 |
| Approved symbol | TGFBR3 |
| Name | transforming growth factor beta receptor 3 |
| Location | 1p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | betaglycan, BGCAN |
| Ensembl gene | ENSG00000069702 |
| Ensembl biotype | protein_coding |
| OMIM | 600742 |
| Entrez | 7049 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 23 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron, 2 nonsense_mediated_decay
ENST00000212355, ENST00000370399, ENST00000417833, ENST00000465892, ENST00000468996, ENST00000470600, ENST00000525962, ENST00000529608, ENST00000532540, ENST00000533089, ENST00000533370, ENST00000868417, ENST00000868418, ENST00000868419, ENST00000868420, ENST00000868421, ENST00000868422, ENST00000868423, ENST00000868424, ENST00000868425, ENST00000868426, ENST00000868427, ENST00000868428, ENST00000868429, ENST00000868430, ENST00000868431, ENST00000944333, ENST00000944334, ENST00000944335
RefSeq mRNA: 3 — MANE Select: NM_003243
NM_001195683, NM_001195684, NM_003243
CCDS: CCDS30770, CCDS55614
Canonical transcript exons
ENST00000212355 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001452590 | 91680343 | 91683857 |
| ENSE00001608358 | 91885878 | 91886151 |
| ENSE00003469984 | 91719893 | 91720230 |
| ENSE00003476285 | 91708663 | 91708783 |
| ENSE00003485699 | 91797287 | 91797471 |
| ENSE00003490625 | 91727659 | 91727806 |
| ENSE00003513471 | 91719312 | 91719464 |
| ENSE00003515366 | 91729805 | 91729973 |
| ENSE00003552633 | 91695672 | 91695779 |
| ENSE00003609889 | 91734776 | 91734959 |
| ENSE00003659263 | 91758613 | 91758750 |
| ENSE00003670052 | 91712243 | 91712542 |
| ENSE00003680288 | 91716568 | 91716708 |
| ENSE00003680560 | 91698089 | 91698130 |
| ENSE00003687589 | 91721955 | 91722144 |
| ENSE00003689932 | 91716236 | 91716394 |
| ENSE00003895353 | 91861471 | 91861644 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 99.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.9496 / max 290.0997, expressed in 1290 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 13249 | 8.2943 | 938 |
| 13250 | 2.6901 | 748 |
| 13252 | 0.5064 | 239 |
| 13251 | 0.4403 | 211 |
| 13247 | 0.3724 | 211 |
| 13248 | 0.3163 | 163 |
| 13253 | 0.3099 | 143 |
| 13254 | 0.0200 | 14 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| renal glomerulus | UBERON:0000074 | 99.32 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 99.22 | gold quality |
| synovial joint | UBERON:0002217 | 99.08 | gold quality |
| calcaneal tendon | UBERON:0003701 | 99.03 | gold quality |
| mammary duct | UBERON:0001765 | 98.84 | gold quality |
| tibia | UBERON:0000979 | 98.72 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.66 | gold quality |
| seminal vesicle | UBERON:0000998 | 98.56 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.55 | gold quality |
| nipple | UBERON:0002030 | 98.47 | gold quality |
| urethra | UBERON:0000057 | 98.28 | gold quality |
| pericardium | UBERON:0002407 | 98.22 | gold quality |
| tendon | UBERON:0000043 | 98.21 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.17 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 98.13 | gold quality |
| skin of hip | UBERON:0001554 | 98.05 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.99 | gold quality |
| caput epididymis | UBERON:0004358 | 97.94 | gold quality |
| lower lobe of lung | UBERON:0008949 | 97.66 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 97.59 | gold quality |
| mammary gland | UBERON:0001911 | 97.58 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 97.56 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.19 | gold quality |
| parotid gland | UBERON:0001831 | 97.16 | gold quality |
| kidney epithelium | UBERON:0004819 | 97.08 | gold quality |
| vena cava | UBERON:0004087 | 97.04 | gold quality |
| saphenous vein | UBERON:0007318 | 96.90 | gold quality |
| placenta | UBERON:0001987 | 96.84 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 96.63 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.55 | gold quality |
Single-cell (SCXA)
Detected in 18 experiment(s), a significant marker in 17.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 688.10 |
| E-CURD-7 | yes | 381.03 |
| E-ENAD-21 | yes | 325.26 |
| E-MTAB-6911 | yes | 126.88 |
| E-ENAD-27 | yes | 118.49 |
| E-CURD-122 | yes | 40.15 |
| E-CURD-119 | yes | 31.01 |
| E-GEOD-81608 | yes | 21.57 |
| E-HCAD-10 | yes | 20.65 |
| E-MTAB-9543 | yes | 18.18 |
| E-HCAD-9 | yes | 16.56 |
| E-MTAB-5061 | yes | 15.59 |
| E-MTAB-6678 | yes | 11.43 |
| E-MTAB-9388 | yes | 10.81 |
| E-GEOD-83139 | yes | 10.59 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CREB5, GATA3, GFI1B, MYCN
miRNA regulators (miRDB)
173 targeting TGFBR3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
Literature-anchored findings (GeneRIF, showing 40)
- endoglin and betaglycan have a critical role in the regulation of TGFbeta signaling in chondrocytes (PMID:12568406)
- Results quantify the relative expression of inhibin alpha, inhibin/activin beta(A), beta(B), beta(C), follistatin, activin receptors and beta-glycan genes in placental tissue of term pre-eclamptic patients. (PMID:12651901)
- analysis of expression and cellular compartmentalization of the activin receptors ActRIIA, ActRIIB and ActRIB, the inhibin co-receptor (betaglycan), and activin signaling proteins Smads 2, 3 and 4, and growth regulatory role during lactation (PMID:12782414)
- findings indicate a physiologically significant, unanticipated role for beta arrestin 2 in regulating TGF-beta signaling through internalization and subsequent decreased signaling of TGF-beta receptors (PMID:12958365)
- We observed loss of type III TGFbeta receptor (TBR3) expression in all renal cell carcinoma samples (PMID:12970754)
- The specific expression and regulation pattern of betaglycan gene may be related to the functional antagonism of inhibins to activin signal transduction in human ovaries (PMID:14557487)
- Betaglycan mRNA and peptide are expressed by the trophoblast, the decidua and the fetal membranes, but the localization of the peptide in vessel walls is dependent on gestational age. (PMID:14585090)
- expression values for TGF 1 and its receptors I, II, and III were twice as high in the group of patients with a diagnosis of high-grade lymphomas as in the group of patients diagnosed with low-grade lymphomas (PMID:14704634)
- The lower inhibin alpha and betaglycan expression in endometrial adenocarcinoma suggests that the inhibin action may be disrupted. (PMID:15745937)
- This study establishes the first mutational report of the TGFBR3 gene in correlation with ovarian failure. Significant diversity of genotype distribution and haplotype analysis suggested susceptibility of the TGFBR3 gene for ovarian failure aetiology. (PMID:16613887)
- analysis of inhibin and transforming growth factor beta-binding sites on betaglycan (PMID:16621788)
- Mutational analysis of betaglycan/TGF-betaRIII in premature ovarian failure. (PMID:17084394)
- TGFBR3 is the TGF-beta component most commonly downregulated among localized human prostate cancer studies. TGFBR3 knockdown led to focus formation and enhanced expression of CD133, a marker found on prostate cancer stem cells. (PMID:17192875)
- glycosylation of Asn(302) of the alpha-subunit of inhibin A and B results in a decrease in bioactivity, and the effect on inhibin A, at least, is explained by its reduced affinity to betaglycan (PMID:17272393)
- in bone fracture patients, 12 proteins were related to bone/cartilage metabolism, including: TGF-beta induced protein IG-H(3), cartilage acidic protein 1, procollagen C proteinase enhancer protein and TGF-beta receptor III. (PMID:17602227)
- type III transforming growth factor beta receptor has a role in preventing motility and invasiveness associated with epithelial to mesenchymal transition during pancreatic cancer progression (PMID:17999987)
- The aim of this study was to analyse the profile of TGF-beta1 and the expression of its receptor (TbetaR I, TbetaR II and TbetaR III-betaglycan) genes in IPAH and in secondary forms of pulmonary arterial hypertension [Eisenmenger’s syndrome patients]. (PMID:18097622)
- The ability of TbetaRIII to serve as a cell surface receptor and mediate BMP, inhibin, and TGF-beta signaling suggests a broader role for TbetaRIII in orchestrating TGF-beta superfamily signaling. (PMID:18184661)
- TGF-beta1-mediates downregulation of TbetaRIII mRNA expression through effects on the ALK5/Smad2/3 pathway. (PMID:18299279)
- a high affinity interaction between betaglycan and residues Val(108)-Tyr(120) of the inhibin alpha-subunit mediate inhibin A biological activity (PMID:18397882)
- Mesenchymal stem cells from patients with osteoarthritis showed significantly increased total TGF-beta, TGF-beta1 isoform, TBR-II, and TBR-III mRNA expression compared to controls. (PMID:18398939)
- clathrin-independent endocytosis of T beta RIII has a role in regulating both Smad-dependent and Smad-independent TGF-beta signaling (PMID:18845534)
- Report overexpression of TGFBR3 in pancreatic islets of nesidioblastosis patients. (PMID:18931647)
- Stratified linkage analysis followed by association testing identified TGFBR3 (betaglycan) as a potential susceptibility gene for COPD. (PMID:19131638)
- These data suggest that loss of betaglycan contributes to the pathogenesis of ovarian granulosa cell tumors. (PMID:19164448)
- ADAMTS18 and TGFBR3 might underlie BMD determination in the major human ethnic groups. (PMID:19249006)
- an unexpected TGF-beta signaling independent role for TbetaRIII in activating Cdc42, altering the actin cytoskeleton and reducing directional persistence to inhibit random migration of both cancer and normal epithelial cells (PMID:19416857)
- results of this study suggest that TGFbetaRIII is transcriptionally down-regulated in hepatocellular carcinoma; in addition, genetic alterations did not appear to be associated with the reduced expression level of TGFbetaRIII (PMID:19639191)
- Partial plasmin digestion of soluble betaglycan produces two proteolysis-resistant fragments of 45 and 55 kilodaltons (kDa) corresponding, respectively, to betaglucan membrane-distal and -proximal regions. (PMID:19842711)
- A review on the role of TbetaRIII as a suppressor of cancer progression and/or as a metastasis suppressor. (PMID:20153821)
- report demonstrates the aberrantly increased expression of betaglycan mRNA in polycystic ovary syndrome ovaries; mechanism by which betaglycan contributes to the pathologic process of PCOS remains to be clarified (PMID:20178540)
- Loss of type III transforming growth factor-beta receptor expression is due to methylation silencing of the transcription factor GATA3 in renal cell carcinoma. (PMID:20208565)
- Association of genetic variants in TGFBR3 and asthma in a Korean population. (PMID:20386084)
- Use of sucrose-density ultracentrifugation to isolate membrane-raft fractions demonstrates recruitment of both TGFBbeta receptor (TGFbetaR)II and TGFbetaRI to non-raft membrane fractions by TGFbetaRIII. (PMID:20406198)
- Reduced expression of TGFBR3 was observed in non-small cell lung cancer(NSCLC) cell lines, especially in 95D, suggesting that TGFBR3 might play an important role in development and progression of NSCLC. (PMID:20677641)
- endometrial cancer is associated with disruption of accessory receptor betaglycan expression, what may alter TGFbeta2-induced signaling. (PMID:21261473)
- TGFBR3 is associated with acute lung injury in mice (PMID:21297076)
- Polymorphisms of ATOH7, TGFBR3 and CARD10 influence the size of optic disc area. (PMID:21307088)
- type III transforming growth factor-beta protein expression is decreased in human multiple myeloma specimens. (PMID:21411633)
- Chromosomal translocation t(1;10) is consistent with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor. (PMID:21717526)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tgfbr3 | ENSDARG00000099979 |
| mus_musculus | Tgfbr3 | ENSMUSG00000029287 |
| rattus_norvegicus | Tgfbr3 | ENSRNOG00000002093 |
Paralogs (2): ENG (ENSG00000106991), TGFBR3L (ENSG00000260001)
Protein
Protein identifiers
Transforming growth factor beta receptor type 3 — Q03167 (reviewed: Q03167)
Alternative names: Betaglycan, Transforming growth factor beta receptor III
All UniProt accessions (5): Q03167, A0A0A8KWK3, E9PAW7, E9PKY4, E9PMG7
UniProt curated annotations — full annotation on UniProt →
Function. Cell surface receptor that regulates diverse cellular processes including cell proliferation, differentiation, migration, and apoptosis. Initiates BMP, inhibin, and TGF-beta signaling pathways by interacting with different ligands including TGFB1, BMP2, BMP5, BMP7 or GDF5. Alternatively, acts as a cell surface coreceptor for BMP ligands, serving to enhance ligand binding by differentially regulating BMPR1A/ALK3 and BMPR1B/ALK6 receptor trafficking. Promotes epithelial cell adhesion, focal adhesion formation and integrin signaling during epithelial cell spreading on fibronectin. By interacting with the scaffolding protein beta-arrestin2/ARRB2, regulates migration or actin cytoskeleton and promotes the activation of CDC42 as well as the inhibition of NF-kappa-B. In gonadotrope cells, acts as an inhibin A coreceptor and regulates follicle-stimulating hormone (FSH) levels and female fertility. Plays a role in the inhibition of directed and random cell migration in epithelial cells by altering the actin cytoskeletal organization. Participates in epithelial-mesenchymal transformation (EMT) upon binding to BMP2 or TGFB2, by activating the PAR6/SMURF1/RHOA pathway. (Microbial infection) May act as a receptor for human cytomegalovirus in different cell types by interacting with HCMV trimer composed of GO, GH and GL.
Subunit / interactions. Forms homodimers and homooligomers. Interacts with DYNLT4. Interacts with integrin ITGA5:ITGB1; this interaction promotes the internalization and trafficking of ITGA5:ITGB1 into endocytic vesicles. Interacts with TGFB1, BMP2, BMP5, BMP7 or GDF5 and inhibin A via the ligand binding domains. Interacts with ALK3/BMPR1A; this interaction results in the cell surface retention of BMPR1A. Interacts with ALK6/BMPR1B; this interaction enhances BMPR1B-mediated stimulation of the BMP signaling pathway. Interacts with the scaffolding protein beta-arrestin2/ARRB2; this interaction mediates internalization of TGFBR3 and thus regulates migration, actin cytoskeleton and activation of CDC42. (Microbial infection) Interacts with human cytomegalovirus trimer complex composed of gH, gL, and gO; these interactions may promote HCMV cell entry in specific cell types.
Subcellular location. Cell membrane. Secreted. Extracellular space. Extracellular matrix.
Post-translational modifications. Extensively modified by glycosaminoglycan groups (GAG). Phosphorylated in the cytoplasmic domain by the type II receptor TGFBR2 at THR-840 to mediate recruitment of ARRB2 and subsequent internalization of TGFBR2 and TGFBR3.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q03167-1 | 1 | yes |
| Q03167-2 | 2 |
RefSeq proteins (3): NP_001182612, NP_001182613, NP_003234* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001507 | ZP_dom | Domain |
| IPR017977 | ZP_dom_CS | Conserved_site |
| IPR042235 | ZP-C_dom | Homologous_superfamily |
| IPR048290 | ZP_chr | Domain |
| IPR055355 | ZP-C | Domain |
| IPR055356 | ZP-N | Domain |
| IPR058899 | TGFBR3/Endoglin-like_N | Domain |
Pfam: PF00100, PF23344, PF26060
UniProt features (47 total): strand 11, glycosylation site 7, sequence variant 7, disulfide bond 4, helix 3, topological domain 2, sequence conflict 2, region of interest 2, compositionally biased region 2, signal peptide 1, chain 1, modified residue 1, splice variant 1, transmembrane region 1, mutagenesis site 1, domain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7LBG | ELECTRON MICROSCOPY | 2.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q03167-F1 | 71.58 | 0.27 |
Antibody-complex structures (SAbDab): 1 — 7LBG
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 840
Disulfide bonds (4): 52–197, 639–705, 660–730, 710–723
Glycosylation sites (7): 141, 492, 534, 545, 571, 590, 697
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 840 | partial loss of phosphorylation by tgfbr2. |
Function
Pathways and Gene Ontology
Reactome pathways
18 pathways
| ID | Pathway |
|---|---|
| R-HSA-1502540 | Signaling by Activin |
| R-HSA-190370 | FGFR1b ligand binding and activation |
| R-HSA-190373 | FGFR1c ligand binding and activation |
| R-HSA-201451 | Signaling by BMP |
| R-HSA-2173789 | TGF-beta receptor signaling activates SMADs |
| R-HSA-9839383 | TGFBR3 PTM regulation |
| R-HSA-9839389 | TGFBR3 regulates TGF-beta signaling |
| R-HSA-9839394 | TGFBR3 expression |
| R-HSA-9839397 | TGFBR3 regulates FGF2 signaling |
| R-HSA-9839406 | TGFBR3 regulates activin signaling |
| R-HSA-162582 | Signal Transduction |
| R-HSA-170834 | Signaling by TGF-beta Receptor Complex |
| R-HSA-190236 | Signaling by FGFR |
| R-HSA-190242 | FGFR1 ligand binding and activation |
| R-HSA-5654736 | Signaling by FGFR1 |
| R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| R-HSA-9006936 | Signaling by TGFB family members |
| R-HSA-9839373 | Signaling by TGFBR3 |
MSigDB gene sets: 598 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_VENTRICULAR_SEPTUM_MORPHOGENESIS, GOBP_CORONARY_VASCULATURE_DEVELOPMENT, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, GOBP_HEART_TRABECULA_MORPHOGENESIS
GO Biological Process (43): response to hypoxia (GO:0001666), epithelial to mesenchymal transition (GO:0001837), liver development (GO:0001889), heart morphogenesis (GO:0003007), muscular septum morphogenesis (GO:0003150), outflow tract morphogenesis (GO:0003151), ventricular compact myocardium morphogenesis (GO:0003223), immune response (GO:0006955), transforming growth factor beta receptor signaling pathway (GO:0007179), transforming growth factor beta receptor complex assembly (GO:0007181), positive regulation of gene expression (GO:0010628), cell migration (GO:0016477), regulation of transforming growth factor beta receptor signaling pathway (GO:0017015), negative regulation of cell migration (GO:0030336), BMP signaling pathway (GO:0030509), positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), animal organ regeneration (GO:0031100), response to follicle-stimulating hormone (GO:0032354), response to prostaglandin E (GO:0034695), response to luteinizing hormone (GO:0034699), intracellular signal transduction (GO:0035556), negative regulation of canonical NF-kappaB signal transduction (GO:0043124), negative regulation of epithelial cell proliferation (GO:0050680), ventricular cardiac muscle tissue morphogenesis (GO:0055010), cardiac muscle cell proliferation (GO:0060038), positive regulation of cardiac muscle cell proliferation (GO:0060045), definitive hemopoiesis (GO:0060216), cardiac epithelial to mesenchymal transition (GO:0060317), definitive erythrocyte differentiation (GO:0060318), heart trabecula formation (GO:0060347), positive regulation of SMAD protein signal transduction (GO:0060391), negative regulation of SMAD protein signal transduction (GO:0060392), ventricular septum morphogenesis (GO:0060412), epicardium-derived cardiac fibroblast cell development (GO:0060939), vasculogenesis involved in coronary vascular morphogenesis (GO:0060979), heart trabecula morphogenesis (GO:0061384), secondary palate development (GO:0062009), positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050), negative regulation of extracellular matrix assembly (GO:1901202)
GO Molecular Function (15): transmembrane signaling receptor activity (GO:0004888), transforming growth factor beta receptor activity (GO:0005024), type II transforming growth factor beta receptor binding (GO:0005114), transforming growth factor beta receptor binding (GO:0005160), glycosaminoglycan binding (GO:0005539), heparin binding (GO:0008201), coreceptor activity (GO:0015026), fibroblast growth factor binding (GO:0017134), PDZ domain binding (GO:0030165), BMP binding (GO:0036122), SMAD binding (GO:0046332), activin binding (GO:0048185), transforming growth factor beta binding (GO:0050431), transforming growth factor beta receptor activity, type III (GO:0070123), protein binding (GO:0005515)
GO Cellular Component (12): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytosol (GO:0005829), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), basolateral plasma membrane (GO:0016323), inhibin-betaglycan-ActRII complex (GO:0034673), signaling receptor complex (GO:0043235), extracellular exosome (GO:0070062), membrane (GO:0016020), cell periphery (GO:0071944)
Reactome top-level categories
Rollup of top-8 pathways:
| Category | Pathways |
|---|---|
| Signaling by TGFBR3 | 5 |
| Signaling by TGFB family members | 4 |
| FGFR1 ligand binding and activation | 2 |
| Signal Transduction | 2 |
| Signaling by TGF-beta Receptor Complex | 1 |
| Signaling by Receptor Tyrosine Kinases | 1 |
| Signaling by FGFR1 | 1 |
| Signaling by FGFR | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| transforming growth factor beta receptor signaling pathway | 4 |
| transforming growth factor beta receptor superfamily signaling pathway | 2 |
| regulation of transforming growth factor beta receptor signaling pathway | 2 |
| signaling receptor activity | 2 |
| growth factor binding | 2 |
| cytokine binding | 2 |
| response to stress | 1 |
| response to decreased oxygen levels | 1 |
| mesenchymal cell differentiation | 1 |
| gland development | 1 |
| hepaticobiliary system development | 1 |
| heart development | 1 |
| animal organ morphogenesis | 1 |
| ventricular septum morphogenesis | 1 |
| muscle tissue morphogenesis | 1 |
| heart morphogenesis | 1 |
| anatomical structure morphogenesis | 1 |
| ventricular cardiac muscle tissue morphogenesis | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| cellular response to transforming growth factor beta stimulus | 1 |
| protein-containing complex assembly | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| cell motility | 1 |
| regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| regulation of cellular response to transforming growth factor beta stimulus | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| negative regulation of cell motility | 1 |
| cellular response to BMP stimulus | 1 |
| positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| positive regulation of cellular response to transforming growth factor beta stimulus | 1 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| regeneration | 1 |
| animal organ development | 1 |
| response to gonadotropin | 1 |
| response to prostaglandin | 1 |
Protein interactions and networks
STRING
2302 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TGFBR3 | TGFB2 | P08112 | 995 |
| TGFBR3 | TGFB1 | P01137 | 992 |
| TGFBR3 | TGFB3 | P10600 | 989 |
| TGFBR3 | TGFBR1 | P36897 | 976 |
| TGFBR3 | TGFBR2 | P37173 | 966 |
| TGFBR3 | ACVR2A | P27037 | 843 |
| TGFBR3 | BMP2 | P12643 | 825 |
| TGFBR3 | WLS | Q5T9L3 | 791 |
| TGFBR3 | CLEC7A | Q9BXN2 | 767 |
| TGFBR3 | BMP4 | P12644 | 751 |
| TGFBR3 | ARRB2 | P32121 | 744 |
| TGFBR3 | GDF5 | P43026 | 708 |
| TGFBR3 | INHA | P05111 | 673 |
| TGFBR3 | ARRB1 | P49407 | 651 |
| TGFBR3 | ACVR2B | Q13705 | 640 |
IntAct
44 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| TGFBR3 | FGFR4 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| PDPK1 | AGRN | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| DEFA5 | NUDT19 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRTM4 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| DEFA1 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| HADHA | AGRN | psi-mi:“MI:0914”(association) | 0.530 |
| TAFA4 | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| GPR183 | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| FGF1 | SDC4 | psi-mi:“MI:0914”(association) | 0.530 |
| TGFBR3 | GIPC1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| TGFB1 | TGFBR3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TGFB3 | TGFBR3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ST8SIA4 | FAM234B | psi-mi:“MI:0914”(association) | 0.350 |
| DKKL1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| KLK11 | DENND11 | psi-mi:“MI:0914”(association) | 0.350 |
| SHISA3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| PSCA | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| KLRC1 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| ST14 | LIPT2 | psi-mi:“MI:0914”(association) | 0.350 |
| FGF4 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS13 | TOR1A | psi-mi:“MI:0914”(association) | 0.350 |
| HPN | TOR1A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (66): TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS)
ESM2 similar proteins: A0A0A6YXX9, A0A1Z2R986, B8RJM0, E9Q555, E9Q612, G5E8Q8, O35664, O88393, P09258, P0DP43, P13374, P20746, P22596, P22650, P22651, P26342, P33500, P35054, P48749, P68325, Q03167, Q14CH0, Q16827, Q2TAV2, Q2YDM0, Q56A20, Q5BKX0, Q5R7R7, Q5RBQ2, Q5U228, Q68FB2, Q6NU22, Q6NU51, Q6P995, Q6S6Q5, Q6UC88, Q76B58, Q77NN4, Q7SXB3, Q8K1M8
Diamond homologs: A0A1Z2R986, P17813, P37176, Q03167, Q63961, O88393, P26342, P35054
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CREB5 | “up-regulates quantity by expression” | TGFBR3 | “transcriptional regulation” |
| INHA | down-regulates | TGFBR3 | binding |
| TGFB2 | up-regulates | TGFBR3 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 58 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| PIP3 activates AKT signaling | 6 | 9.5× | 5e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of cell division | 5 | 31.2× | 2e-04 |
| neural tube closure | 5 | 17.3× | 1e-03 |
| regulation of cell migration | 5 | 14.6× | 2e-03 |
| positive regulation of ERK1 and ERK2 cascade | 7 | 11.0× | 7e-04 |
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
144 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 98 |
| Likely benign | 21 |
| Benign | 10 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4453 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:91695667:CTAA:C | donor_loss | 1.0000 |
| 1:91695668:TAA:T | donor_loss | 1.0000 |
| 1:91695669:AAC:A | donor_loss | 1.0000 |
| 1:91695670:A:T | donor_loss | 1.0000 |
| 1:91695671:C:CT | donor_loss | 1.0000 |
| 1:91695778:TG:T | acceptor_gain | 1.0000 |
| 1:91698087:A:AC | donor_gain | 1.0000 |
| 1:91698088:C:CC | donor_gain | 1.0000 |
| 1:91708782:CA:C | acceptor_gain | 1.0000 |
| 1:91708784:C:CC | acceptor_gain | 1.0000 |
| 1:91712240:AAC:A | donor_loss | 1.0000 |
| 1:91712241:A:C | donor_loss | 1.0000 |
| 1:91712540:TACC:T | acceptor_loss | 1.0000 |
| 1:91712543:C:G | acceptor_loss | 1.0000 |
| 1:91716390:TTAAA:T | acceptor_gain | 1.0000 |
| 1:91716395:C:CC | acceptor_gain | 1.0000 |
| 1:91716564:ATACC:A | donor_loss | 1.0000 |
| 1:91716566:ACCAC:A | donor_gain | 1.0000 |
| 1:91716567:CCA:C | donor_gain | 1.0000 |
| 1:91716567:CCACC:C | donor_gain | 1.0000 |
| 1:91716704:ACAAT:A | acceptor_gain | 1.0000 |
| 1:91716705:CAAT:C | acceptor_gain | 1.0000 |
| 1:91716705:CAATC:C | acceptor_gain | 1.0000 |
| 1:91716706:AAT:A | acceptor_gain | 1.0000 |
| 1:91716707:AT:A | acceptor_gain | 1.0000 |
| 1:91716709:C:CC | acceptor_gain | 1.0000 |
| 1:91719310:A:AC | donor_gain | 1.0000 |
| 1:91719311:C:CC | donor_gain | 1.0000 |
| 1:91719460:CTGGC:C | acceptor_gain | 1.0000 |
| 1:91719868:C:A | donor_gain | 1.0000 |
AlphaMissense
5612 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:91712494:A:G | C639R | 0.999 |
| 1:91712346:A:G | F688S | 0.998 |
| 1:91712492:G:C | C639W | 0.998 |
| 1:91716240:A:T | V621D | 0.998 |
| 1:91712296:A:G | C705R | 0.997 |
| 1:91712493:C:T | C639Y | 0.997 |
| 1:91727703:A:G | W281R | 0.997 |
| 1:91727703:A:T | W281R | 0.997 |
| 1:91712295:C:G | C705S | 0.996 |
| 1:91712296:A:T | C705S | 0.996 |
| 1:91712493:C:G | C639S | 0.996 |
| 1:91712494:A:T | C639S | 0.996 |
| 1:91695728:G:T | A794D | 0.995 |
| 1:91712280:C:G | C710S | 0.995 |
| 1:91712281:A:G | C710R | 0.995 |
| 1:91712281:A:T | C710S | 0.995 |
| 1:91712301:A:G | L703P | 0.995 |
| 1:91712346:A:C | F688C | 0.995 |
| 1:91712430:C:G | C660S | 0.995 |
| 1:91712431:A:T | C660S | 0.995 |
| 1:91729952:C:G | C197S | 0.995 |
| 1:91729953:A:T | C197S | 0.995 |
| 1:91734827:A:G | S173P | 0.995 |
| 1:91758663:A:G | W112R | 0.995 |
| 1:91758663:A:T | W112R | 0.995 |
| 1:91695693:A:G | W806R | 0.994 |
| 1:91695693:A:T | W806R | 0.994 |
| 1:91695707:A:G | L801P | 0.994 |
| 1:91695737:G:T | A791E | 0.994 |
| 1:91712340:A:G | F690S | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000017637 (1:91697457 G>A), RS1000043196 (1:91894899 T>C), RS1000058247 (1:91755884 A>G), RS1000069414 (1:91843409 C>T), RS1000095984 (1:91850580 AG>A), RS1000100193 (1:91900799 C>T), RS1000103077 (1:91764007 T>C), RS1000109208 (1:91883672 T>C), RS1000131003 (1:91719216 C>A,T), RS1000154770 (1:91806201 C>T), RS1000158791 (1:91894587 G>A,C,T), RS1000168936 (1:91804781 C>T), RS1000175986 (1:91762494 G>A), RS1000194335 (1:91785783 T>C), RS1000217231 (1:91797218 G>A,T)
Disease associations
OMIM: gene MIM:600742 | disease phenotypes: MIM:607086
GenCC curated gene-disease
Mondo (4): infertility disorder (MONDO:0005047), prostate cancer (MONDO:0008315), familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625), connective tissue disorder (MONDO:0003900)
Orphanet (2): Familial prostate cancer (Orphanet:1331), Familial thoracic aortic aneurysm and aortic dissection (Orphanet:91387)
HPO phenotypes
15 total (15 of 15 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000822 | Hypertension |
| HP:0001123 | Visual field defect |
| HP:0001250 | Seizure |
| HP:0001269 | Hemiparesis |
| HP:0002138 | Subarachnoid hemorrhage |
| HP:0002170 | Intracranial hemorrhage |
| HP:0002326 | Transient ischemic attack |
| HP:0002363 | Abnormal brainstem morphology |
| HP:0002616 | Aortic root aneurysm |
| HP:0002621 | Atherosclerosis |
| HP:0002647 | Aortic dissection |
| HP:0007029 | Cerebral berry aneurysm |
| HP:0012246 | Oculomotor nerve palsy |
| HP:0012518 | Abnormal circle of Willis morphology |
| HP:0040197 | Encephalomalacia |
GWAS associations
38 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000347_2 | Bone mineral density | 1.000000e-06 |
| GCST000699_3 | Optic disc parameters | 3.000000e-28 |
| GCST000970_3 | Optic disc area | 8.000000e-17 |
| GCST001759_3 | Type 2 diabetes | 4.000000e-06 |
| GCST002626_1 | Vertical cup-disc ratio | 1.000000e-15 |
| GCST002765_1 | Optic disc area | 8.000000e-56 |
| GCST002765_6 | Optic disc area | 4.000000e-38 |
| GCST004010_1 | QT interval (tricyclic/tetracyclic antidepressant use interaction) | 3.000000e-08 |
| GCST004047_1 | Optic nerve measurement (cup-to-disc ratio) | 1.000000e-07 |
| GCST004075_26 | Vertical cup-disc ratio | 3.000000e-20 |
| GCST004075_27 | Vertical cup-disc ratio | 2.000000e-23 |
| GCST004076_16 | Optic disc area | 6.000000e-81 |
| GCST004076_2 | Optic disc area | 2.000000e-60 |
| GCST004162_5 | Carotid plaque burden | 7.000000e-06 |
| GCST004185_5 | Lung function (FEV1/FVC) | 6.000000e-20 |
| GCST004185_6 | Lung function (FEV1/FVC) | 1.000000e-09 |
| GCST004763_1 | HDL cholesterol change in response to fenofibrate in statin-treated type 2 diabetes | 9.000000e-07 |
| GCST004899_6 | Gestational age at birth (maternal effect) | 9.000000e-07 |
| GCST006626_40 | Pulse pressure | 2.000000e-10 |
| GCST006979_992 | Heel bone mineral density | 4.000000e-13 |
| GCST007429_94 | Lung function (FVC) | 1.000000e-10 |
| GCST007430_69 | Peak expiratory flow | 2.000000e-08 |
| GCST007430_70 | Peak expiratory flow | 3.000000e-09 |
| GCST007431_109 | Lung function (FEV1/FVC) | 5.000000e-09 |
| GCST007431_67 | Lung function (FEV1/FVC) | 2.000000e-47 |
| GCST007431_68 | Lung function (FEV1/FVC) | 2.000000e-21 |
| GCST008391_1 | Glaucoma (primary open-angle) | 2.000000e-08 |
| GCST008482_1 | Lung function (FVC) | 8.000000e-07 |
| GCST009411_10 | Optic disc area | 4.000000e-64 |
| GCST009412_8 | Vertical cup-disc ratio | 1.000000e-18 |
EFO canonical traits (14, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004682 | QT interval |
| EFO:0007916 | response to tricyclic antidepressant |
| EFO:0006939 | cup-to-disc ratio measurement |
| EFO:0006501 | carotid plaque build |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0007805 | HDL cholesterol change measurement |
| EFO:0005112 | gestational age |
| EFO:0005939 | parental genotype effect measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0004312 | vital capacity |
| EFO:0009718 | peak expiratory flow |
| EFO:0004469 | HOMA-B |
| EFO:0004980 | appendicular lean mass |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D003240 | Connective Tissue Diseases | C17.300 |
| D007246 | Infertility | C12.100.750 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs12082710 | Efficacy | 3 | antidepressants | Depression |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs12082710 | TGFBR3 | 3 | 2.50 | 1 | antidepressants |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: catalytic receptor — Type III receptor serine/threonine kinases
CTD chemical–gene interactions
73 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases expression, affects methylation | 3 |
| Tetrachlorodibenzodioxin | affects expression, decreases expression | 3 |
| Valproic Acid | affects expression, decreases expression, increases expression | 3 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 3 |
| bisphenol A | affects expression, affects methylation | 2 |
| methylselenic acid | increases expression | 2 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Benzene | increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Aflatoxin B1 | affects cotreatment, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| styrene oxide | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| hydroquinone | decreases expression | 1 |
| nivalenol | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B9T7 | Abcam A-549 TGFBR3 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01388907 | PHASE4 | COMPLETED | Efficacity Assessment of PREVADH® in Adhesion Prevention in Gynaecologic Surgery |
| NCT01430650 | PHASE4 | COMPLETED | Endometrial Priming for Embryo Transfer |
| NCT02607319 | PHASE4 | COMPLETED | Low Molecular Weight Heparin to Improve Pregnancy Outcome in Patients With Recurrent Implantation Failure |
| NCT03169166 | PHASE4 | COMPLETED | The Use of GnRH Agonist Trigger for Final Follicle Maturation in Women Undergoing Assisted Reproductive Technologies |
| NCT03177122 | PHASE4 | UNKNOWN | Myo-Inositol- Based Co-treatment in Women With PCOS Undergoing Assisted Reproductive Technology |
| NCT03477929 | PHASE4 | UNKNOWN | Cetrorelix and Ganirelix Flexible Protocol for (IVF) |
| NCT03619707 | PHASE4 | COMPLETED | Oral Versus Vaginal Progesterone in the Luteal Support in Cryo-warmed Embryo Transfer Cycles |
| NCT03846544 | PHASE4 | COMPLETED | Double Pick up in Poor Prognosis Women |
| NCT05725512 | PHASE4 | RECRUITING | Prednisolone Administration in Patients With Unexplained REcurrent MIscarriages |
| NCT06195163 | PHASE4 | NOT_YET_RECRUITING | TRAP Study: Testosterone for Androgen Receptor Polymorphism |
| NCT06763926 | PHASE4 | NOT_YET_RECRUITING | Intranasal Nafarelin For Triggering Oocyte Maturation |
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): connective tissue disorder, familial thoracic aortic aneurysm and aortic dissection, infertility disorder, multiple sclerosis, neutropenia, open-angle glaucoma, prostate cancer