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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]
TGFBR3 (Transforming Growth Factor Beta Receptor 3) is a Protein Coding gene. Diseases associated with TGFBR3 include Familial Cerebral Saccular Aneurysm and Priapism. Among its related pathways are Cell adhesion_Plasmin signaling and Apoptotic Pathways in Synovial Fibroblasts. Gene Ontology (GO) annotations related to this gene include heparin binding and SMAD binding. An important paralog of this gene is ENG.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IEA,TAS | 18184661 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005887 | integral component of plasma membrane | IEA,ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
|
PPAR Pathway
.66
Rac1 Pathway
.65
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Nuclear Receptor Activation by Vitamin-A
.57
|
2 | Apoptosis Pathway |
.39
|
|
3 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
|
Epithelial Adherens Junctions
.36
|
4 | CREB Pathway |
CREB Pathway
.68
|
Activation of PKC through GPCR
.63
|
5 | Sertoli-Sertoli Cell Junction Dynamics |
Sertoli-Sertoli Cell Junction Dynamics
.38
|
Epithelial Tight Junctions
.36
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001525 | angiogenesis | IBA | 21873635 |
GO:0001570 | vasculogenesis | IBA | 21873635 |
GO:0001666 | response to hypoxia | IEA | -- |
GO:0001837 | epithelial to mesenchymal transition | IDA | 18184661 |
GO:0001889 | liver development | ISS | -- |
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: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TGFBR3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TGFBR3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TGFBR3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tgfbr3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tgfbr3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TGFBR3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | TGFBR3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TGFBR3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tgfbr3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tgfbr3 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712919 | Likely Benign: not provided | 91,734,880(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
750078 | Likely Benign: not provided | 91,734,939(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
773411 | Benign: not provided | 91,720,178(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
777326 | Benign: not provided | 91,698,125(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs11466577 | Likely Benign: Familial thoracic aortic aneurysm and aortic dissection | 91,734,979(-) | G/A | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
familial cerebral saccular aneurysm |
|
|
priapism |
|
|
intermediate uveitis |
|
|
acantholytic acanthoma |
|
|
disseminated chorioretinitis |
|
|