TGFB3 (transforming growth factor beta 3)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
7043 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Transforming growth factor beta 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
TGFB3 |
SynonymsGene synonyms aliases
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ARVD, ARVD1, LDS5, RNHF, TGF-beta3 |
ChromosomeChromosome number
|
14 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
14q24.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016] |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs143229915 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
rs387906514 |
G>A |
Pathogenic |
Genic downstream transcript variant, 3 prime UTR variant |
rs398122984 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
rs587777617 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs767548724 |
C>G |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
rs770828281 |
C>T |
Pathogenic, uncertain-significance |
5 prime UTR variant |
rs778990969 |
A>G,T |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant |
rs796051885 |
G>A |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
rs796051886 |
C>G |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs875989816 |
A>G |
Pathogenic |
Splice donor variant |
rs875989817 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1057522944 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1057523647 |
G>A |
Uncertain-significance, likely-pathogenic, pathogenic |
Coding sequence variant, stop gained |
rs1060502826 |
CC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1060502827 |
G>A,C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, stop gained, genic downstream transcript variant |
rs1555360027 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
rs1555360047 |
TCAG>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
rs1555360222 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
rs1555360229 |
G>A |
Pathogenic, uncertain-significance, likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
rs1555360362 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1555360368 |
->TTCCTCTG |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1555360883 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
rs1555361385 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1555361451 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1566679646 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
rs1566682530 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
rs1594787989 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1594792466 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
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|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
HIF1A |
Activation |
16611863 |
HIF1A |
Repression |
10831118 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000187 |
Process |
Activation of MAPK activity |
IEA |
|
GO:0001666 |
Process |
Response to hypoxia |
IDA |
18156205 |
GO:0001701 |
Process |
In utero embryonic development |
ISS |
|
GO:0002576 |
Process |
Platelet degranulation |
TAS |
|
GO:0005114 |
Function |
Type II transforming growth factor beta receptor binding |
IBA |
21873635 |
GO:0005114 |
Function |
Type II transforming growth factor beta receptor binding |
IDA |
11157754, 18243111 |
GO:0005114 |
Function |
Type II transforming growth factor beta receptor binding |
IMP |
8167376 |
GO:0005114 |
Function |
Type II transforming growth factor beta receptor binding |
IPI |
1333888 |
GO:0005125 |
Function |
Cytokine activity |
IBA |
21873635 |
GO:0005515 |
Function |
Protein binding |
IPI |
1326540, 7852346, 9872992, 10930463, 11157754, 11850637, 17827158, 18243111, 21423151 |
GO:0005576 |
Component |
Extracellular region |
TAS |
|
GO:0005615 |
Component |
Extracellular space |
IBA |
21873635 |
GO:0005634 |
Component |
Nucleus |
IEA |
|
GO:0005886 |
Component |
Plasma membrane |
IC |
11157754 |
GO:0007179 |
Process |
Transforming growth factor beta receptor signaling pathway |
IBA |
21873635 |
GO:0007179 |
Process |
Transforming growth factor beta receptor signaling pathway |
IDA |
11157754, 18718461 |
GO:0007435 |
Process |
Salivary gland morphogenesis |
IEP |
18080134 |
GO:0007565 |
Process |
Female pregnancy |
IEA |
|
GO:0007568 |
Process |
Aging |
IEA |
|
GO:0008083 |
Function |
Growth factor activity |
IEA |
|
GO:0008284 |
Process |
Positive regulation of cell population proliferation |
IMP |
11158066 |
GO:0008285 |
Process |
Negative regulation of cell population proliferation |
IMP |
11158066 |
GO:0008285 |
Process |
Negative regulation of cell population proliferation |
ISS |
|
GO:0009986 |
Component |
Cell surface |
IEA |
|
GO:0010718 |
Process |
Positive regulation of epithelial to mesenchymal transition |
IDA |
18505915, 18718461 |
GO:0010718 |
Process |
Positive regulation of epithelial to mesenchymal transition |
ISS |
|
GO:0010862 |
Process |
Positive regulation of pathway-restricted SMAD protein phosphorylation |
IBA |
21873635 |
GO:0010862 |
Process |
Positive regulation of pathway-restricted SMAD protein phosphorylation |
ISS |
|
GO:0010936 |
Process |
Negative regulation of macrophage cytokine production |
IDA |
20875417 |
GO:0030315 |
Component |
T-tubule |
IEA |
|
GO:0030501 |
Process |
Positive regulation of bone mineralization |
IEP |
17401695 |
GO:0030509 |
Process |
BMP signaling pathway |
IBA |
21873635 |
GO:0030512 |
Process |
Negative regulation of transforming growth factor beta receptor signaling pathway |
IEA |
|
GO:0030879 |
Process |
Mammary gland development |
ISS |
|
GO:0031093 |
Component |
Platelet alpha granule lumen |
TAS |
|
GO:0032570 |
Process |
Response to progesterone |
IDA |
18039789 |
GO:0032967 |
Process |
Positive regulation of collagen biosynthetic process |
IMP |
11158066 |
GO:0034616 |
Process |
Response to laminar fluid shear stress |
IEA |
|
GO:0034713 |
Function |
Type I transforming growth factor beta receptor binding |
IDA |
18243111 |
GO:0034714 |
Function |
Type III transforming growth factor beta receptor binding |
IBA |
21873635 |
GO:0034714 |
Function |
Type III transforming growth factor beta receptor binding |
IMP |
8167376 |
GO:0042060 |
Process |
Wound healing |
IEA |
|
GO:0042127 |
Process |
Regulation of cell population proliferation |
IBA |
21873635 |
GO:0042476 |
Process |
Odontogenesis |
NAS |
18078367 |
GO:0042704 |
Process |
Uterine wall breakdown |
TAS |
18039789 |
GO:0042802 |
Function |
Identical protein binding |
IDA |
18243111 |
GO:0042802 |
Function |
Identical protein binding |
IPI |
19073914, 21423151 |
GO:0043025 |
Component |
Neuronal cell body |
IEA |
|
GO:0043065 |
Process |
Positive regulation of apoptotic process |
ISS |
|
GO:0043231 |
Component |
Intracellular membrane-bounded organelle |
IDA |
|
GO:0043524 |
Process |
Negative regulation of neuron apoptotic process |
ISS |
|
GO:0043627 |
Process |
Response to estrogen |
IEA |
|
GO:0043932 |
Process |
Ossification involved in bone remodeling |
IEP |
17401695 |
GO:0044877 |
Function |
Protein-containing complex binding |
IEA |
|
GO:0045216 |
Process |
Cell-cell junction organization |
IDA |
18505915 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IDA |
18156205 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
ISS |
|
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
ISS |
|
GO:0048286 |
Process |
Lung alveolus development |
ISS |
|
GO:0048565 |
Process |
Digestive tract development |
IEA |
|
GO:0048702 |
Process |
Embryonic neurocranium morphogenesis |
IEA |
|
GO:0048839 |
Process |
Inner ear development |
IEA |
|
GO:0050431 |
Function |
Transforming growth factor beta binding |
IDA |
18243111 |
GO:0050714 |
Process |
Positive regulation of protein secretion |
IDA |
18505915 |
GO:0051491 |
Process |
Positive regulation of filopodium assembly |
ISS |
|
GO:0051496 |
Process |
Positive regulation of stress fiber assembly |
IDA |
18718461 |
GO:0051781 |
Process |
Positive regulation of cell division |
IEA |
|
GO:0060325 |
Process |
Face morphogenesis |
IMP |
12651933 |
GO:0060364 |
Process |
Frontal suture morphogenesis |
IEA |
|
GO:0060391 |
Process |
Positive regulation of SMAD protein signal transduction |
ISS |
|
GO:0060395 |
Process |
SMAD protein signal transduction |
IBA |
21873635 |
GO:0062009 |
Process |
Secondary palate development |
ISS |
|
GO:0062023 |
Component |
Collagen-containing extracellular matrix |
IDA |
18049952 |
GO:0070483 |
Process |
Detection of hypoxia |
IDA |
18156205 |
GO:1904706 |
Process |
Negative regulation of vascular associated smooth muscle cell proliferation |
IDA |
26315405 |
GO:1905005 |
Process |
Regulation of epithelial to mesenchymal transition involved in endocardial cushion formation |
ISS |
|
GO:1905075 |
Process |
Positive regulation of tight junction disassembly |
IDA |
18718461 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P10600 |
Protein name |
Transforming growth factor beta-3 proprotein [Cleaved into: Latency-associated peptide (LAP); Transforming growth factor beta-3 (TGF-beta-3)] |
Protein function |
Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively. ; [Latency-associated peptide]: Required to maintain the Transforming growth factor beta-3 (TGF-beta-3) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-3 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-3 (By similarity). Interaction with integrins results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-3 (By similarity). ; Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains remain non-covalently linked rendering TGF-beta-3 inactive during storage in extracellular matrix (By similarity). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1 and LRRC32/GARP that control activation of TGF-beta-3 and maintain it in a latent state during storage in extracellular milieus (By similarity). TGF-beta-3 is released from LAP by integrins: integrin-binding results in distortion of the LAP chain and subsequent release of the active TGF-beta-3 (By similarity). Once activated following release of LAP, TGF-beta-3 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity). |
PDB |
1KTZ
,
1TGJ
,
1TGK
,
2PJY
,
3EO1
,
4UM9
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00688 |
TGFb_propeptide |
23 → 281 |
TGF-beta propeptide |
Family |
PF00019 |
TGF_beta |
314 → 411 |
Transforming growth factor beta like domain |
Domain |
|
Sequence |
|
Sequence length |
412 |
Interactions |
View interactions |
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