Gene table of TGFB1 : transforming growth factor beta 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with TGFB1OMIM linkNumber of associated genesgenes
219700CYSTIC FIBROSISClinVar, OMIM link to OMIM 3TGFB1, FCGR2A, CFTR
131300CAMURATI-ENGELMANN DISEASEClinVar, OMIM, HUMSAVAR link to OMIM 1TGFB1

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Annotation of the gene TGFB1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Pancreatic cancerhsa052126.56
Colorectal cancerhsa052106.52
Renal cell carcinomahsa052116.6
Intestinal immune network for IgA productionhsa046726.79
Endocytosishsa041444.92
FoxO signaling pathwayhsa040685.63
Osteoclast differentiationhsa043805.64
Hypertrophic cardiomyopathy (HCM)hsa054106.21
Dilated cardiomyopathyhsa054146.08
Cytokine-cytokine receptor interactionhsa040604.67
Chagas disease (American trypanosomiasis)hsa051425.99
Leishmaniasishsa051406.32
Amoebiasishsa051465.82
Malariahsa051447.15
Toxoplasmosishsa051455.71
HTLV-I infectionhsa051664.59
Hepatitis Bhsa051615.52
TGF-beta signaling pathwayhsa043506.41
Proteoglycans in cancerhsa052055.02
Rheumatoid arthritishsa053236.05
Cell cyclehsa041105.68
Inflammatory bowel disease (IBD)hsa053216.43
Pathways in cancerhsa052003.98
Hippo signaling pathwayhsa043905.37
Chronic myeloid leukemiahsa052206.48
Non-alcoholic fatty liver disease (NAFLD)hsa049325.51
MAPK signaling pathwayhsa040104.63
Tuberculosishsa051525.17
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
SMAD2/3 MH2 Domain Mutants in CancerR-HSA-331548710.18
Platelet degranulation R-HSA-1146086.68
Host Interactions with Influenza FactorsR-HSA-16825310.66
Transcriptional regulation of white adipocyte differentiationR-HSA-3813406.7
Influenza InfectionR-HSA-1682545.86
Loss of Function of SMAD2/3 in CancerR-HSA-330434910.18
Extracellular matrix organizationR-HSA-14742444.91
Molecules associated with elastic fibresR-HSA-21293797.73
Developmental BiologyR-HSA-12667383.48
TGFBR2 Kinase Domain Mutants in CancerR-HSA-364579010.98
Elastic fibre formationR-HSA-15669487.49
Platelet activation, signaling and aggregationR-HSA-760025.15
Response to elevated platelet cytosolic Ca2+R-HSA-760056.59
ECM proteoglycansR-HSA-30001786.75
TGFBR1 KD Mutants in CancerR-HSA-365653210.18
TGFBR1 LBD Mutants in CancerR-HSA-365653510.98
Loss of Function of TGFBR1 in CancerR-HSA-365653410.18
Syndecan interactionsR-HSA-30001708.23
Non-integrin membrane-ECM interactionsR-HSA-30001717.1
Infectious diseaseR-HSA-56632054.47
SMAD2/3 Phosphorylation Motif Mutants in CancerR-HSA-330435610.4
Signaling by TGF-beta Receptor Complex in CancerR-HSA-33043519.98
Diseases of signal transductionR-HSA-56632024.89
Signaling by TGF-beta Receptor ComplexR-HSA-1708346.81
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)R-HSA-21737918.98
DiseaseR-HSA-16436853.33
TGFBR2 MSI Frameshift Mutants in CancerR-HSA-364227911.98
Loss of Function of TGFBR2 in CancerR-HSA-364227810.98
Influenza Virus Induced ApoptosisR-HSA-16827711.98
TGF-beta receptor signaling activates SMADsR-HSA-21737897.98
Downregulation of TGF-beta receptor signalingR-HSA-21737888.28
HemostasisR-HSA-1095823.98
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
cytokine receptor bindingGO:00051264.14
cytokine activityGO:00051254.34
antigen bindingGO:00038235.02
transforming growth factor beta receptor bindingGO:00051605.81
kinase activator activityGO:00192095.58
enzyme bindingGO:00198992.27
bindingGO:00054880.18
molecular function regulatorGO:00987722.51
kinase regulator activityGO:00192074.5
glycoprotein bindingGO:00019485.11
growth factor activityGO:00080834.66
protein dimerization activityGO:00469832.72
type II transforming growth factor beta receptor bindingGO:00051147.79
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16
protein kinase regulator activityGO:00198874.6
enzyme regulator activityGO:00302342.85
type III transforming growth factor beta receptor bindingGO:00347148.35
type I transforming growth factor beta receptor bindingGO:00347137.44
protein kinase activator activityGO:00302955.68
protein serine/threonine kinase activator activityGO:00435396.91
protein N-terminus bindingGO:00474855.11
carbohydrate derivative bindingGO:00973672.03
protein bindingGO:00055150.46
receptor bindingGO:00051022.43
protein heterodimerization activityGO:00469823.64
enzyme activator activityGO:00080473.56