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This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
TGFB2 (Transforming Growth Factor Beta 2) is a Protein Coding gene. Diseases associated with TGFB2 include Loeys-Dietz Syndrome 4 and Holt-Oram Syndrome. Among its related pathways are Cell adhesion_Plasmin signaling and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and signaling receptor binding. An important paralog of this gene is TGFB3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001540 | amyloid-beta binding | IDA | 16227582 |
GO:0005102 | signaling receptor binding | IMP | 16227582 |
GO:0005114 | type II transforming growth factor beta receptor binding | IBA,IPI | 1333888 |
GO:0005125 | cytokine activity | IBA | 21873635 |
GO:0005160 | transforming growth factor beta receptor binding | IDA | 10092230 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | 2119582 |
GO:0005615 | extracellular space | IDA | 24263861 |
GO:0030424 | axon | ISS | -- |
GO:0031093 | platelet alpha granule lumen | TAS | -- |
GO:0043025 | neuronal cell body | 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
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
2 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
5 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000902 | cell morphogenesis | IDA | 15896309 |
GO:0001501 | skeletal system development | ISS | -- |
GO:0001654 | eye development | IDA | 15944186 |
GO:0001666 | response to hypoxia | IMP | 12411310 |
GO:0001822 | kidney development | ISS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
ITD 1 | The first selective TGFβ inhibitor | 1099644-42-4 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | - | - | |||||||||||||||||
SP3: | - | - | - | ||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TGFB2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TGFBETA2 31 |
|
OneToOne | |
TGFB2 30 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | TGFB2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TGFB2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tgfb2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tgfb2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TGFB2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TGFB2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TGFB2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tgfb2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | tgfb2-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tgfb2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | daw 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636392 | Likely Pathogenic: not provided | 218,346,994(+) | A/ACTAC | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
636492 | Likely Pathogenic: not provided | 218,347,048(+) | G/C | SPLICE_DONOR_VARIANT | |
636933 | Likely Pathogenic: not provided | 218,437,497(+) | G/A | SPLICE_DONOR_VARIANT | |
642579 | Uncertain Significance: Holt-Oram syndrome | 218,405,222(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
643407 | Pathogenic: Holt-Oram syndrome | 218,437,399(+) | T/TA | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2723040 | CNV | deletion | 23290073 |
esv3578440 | CNV | loss | 25503493 |
nsv832603 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
loeys-dietz syndrome 4 |
|
|
holt-oram syndrome |
|
|
familial thoracic aortic aneurysm and aortic dissection |
|
|
loeys-dietz syndrome |
|
|
macular holes |
|