TGFB3 (transforming growth factor beta 3)

2003-02-01  

Identity

HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
ARVD,ARVD1,LDS5,RNHF,TGF-beta3
FUSION GENES

Other Information

Locus ID:

NCBI: 7043
MIM: 190230
HGNC: 11769
Ensembl: ENSG00000119699

Variants:

dbSNP: 7043
ClinVar: 7043
TCGA: ENSG00000119699
COSMIC: TGFB3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119699ENST00000238682P10600
ENSG00000119699ENST00000238682A5YM40
ENSG00000119699ENST00000556285P10600

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Cytokine-cytokine receptor interactionKEGGko04060
Cell cycleKEGGko04110
TGF-beta signaling pathwayKEGGko04350
Colorectal cancerKEGGko05210
Renal cell carcinomaKEGGko05211
Pancreatic cancerKEGGko05212
Chronic myeloid leukemiaKEGGko05220
MAPK signaling pathwayKEGGhsa04010
Cytokine-cytokine receptor interactionKEGGhsa04060
Cell cycleKEGGhsa04110
TGF-beta signaling pathwayKEGGhsa04350
Pathways in cancerKEGGhsa05200
Colorectal cancerKEGGhsa05210
Renal cell carcinomaKEGGhsa05211
Pancreatic cancerKEGGhsa05212
Chronic myeloid leukemiaKEGGhsa05220
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
LeishmaniasisKEGGko05140
LeishmaniasisKEGGhsa05140
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
MalariaKEGGko05144
MalariaKEGGhsa05144
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
ToxoplasmosisKEGGko05145
ToxoplasmosisKEGGhsa05145
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Hepatitis BKEGGhsa05161
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
Inflammatory bowel disease (IBD)KEGGhsa05321
Inflammatory bowel disease (IBD)KEGGko05321
FoxO signaling pathwayKEGGhsa04068
TGF-beta signalingKEGGhsa_M00680
TGF-beta signalingKEGGM00680
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Extracellular matrix organizationREACTOMER-HSA-1474244
Elastic fibre formationREACTOMER-HSA-1566948
Molecules associated with elastic fibresREACTOMER-HSA-2129379
ECM proteoglycansREACTOMER-HSA-3000178
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933

References

Pubmed IDYearTitleCitations
187996182008Snail and Slug promote epithelial-mesenchymal transition through beta-catenin-T-cell factor-4-dependent expression of transforming growth factor-beta3.165
182431112008Cooperative assembly of TGF-beta superfamily signaling complexes is mediated by two disparate mechanisms and distinct modes of receptor binding.95
156394752005Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1.93
176736892008Collagen I promotes epithelial-to-mesenchymal transition in lung cancer cells via transforming growth factor-beta signaling.90
118506372002Crystal structure of the human TbetaR2 ectodomain--TGF-beta3 complex.67
258354452015Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.61
204072242010Hypertrophy in mesenchymal stem cell chondrogenesis: effect of TGF-beta isoforms and chondrogenic conditioning.58
197006132009Transforming growth factor beta3 regulates the versican variants in the extracellular matrix-rich uterine leiomyomas.49
185059152008Transforming growth factor-beta1, transforming growth factor-beta2, and transforming growth factor-beta3 enhance ovarian cancer metastatic potential by inducing a Smad3-dependent epithelial-to-mesenchymal transition.48
165494962006A "traffic control" role for TGFbeta3: orchestrating dermal and epidermal cell motility during wound healing.47

Citation

Dessen P

TGFB3 (transforming growth factor beta 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42538/tgfb3-(transforming-growth-factor-beta-3)