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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
15
Cytoband
q22.33
Chromosome location (bp)
67063763 - 67195173
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
P84022 [Direct mapping] Mothers against decapentaplegic homolog 3
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A0A024R5Z3 [Target identity:100%; Query identity:100%] Mothers against decapentaplegic homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000165[MAPK cascade] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001217[DNA-binding transcription repressor activity] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0001649[osteoblast differentiation] GO:0001657[ureteric bud development] GO:0001666[response to hypoxia] GO:0001701[in utero embryonic development] GO:0001707[mesoderm formation] GO:0001756[somitogenesis] GO:0001889[liver development] GO:0001947[heart looping] GO:0002076[osteoblast development] GO:0002520[immune system development] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005160[transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005634[nucleus] GO:0005637[nuclear inner membrane] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006955[immune response] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007183[SMAD protein complex assembly] GO:0007254[JNK cascade] GO:0007369[gastrulation] GO:0007492[endoderm development] GO:0008013[beta-catenin binding] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0009880[embryonic pattern specification] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010694[positive regulation of alkaline phosphatase activity] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0016202[regulation of striated muscle tissue development] GO:0016922[nuclear receptor binding] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0017151[DEAD/H-box RNA helicase binding] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0019902[phosphatase binding] GO:0023019[signal transduction involved in regulation of gene expression] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0030325[adrenal gland development] GO:0030335[positive regulation of cell migration] GO:0030501[positive regulation of bone mineralization] GO:0030878[thyroid gland development] GO:0031053[primary miRNA processing] GO:0031490[chromatin DNA binding] GO:0031625[ubiquitin protein ligase binding] GO:0031962[nuclear mineralocorticoid receptor binding] GO:0032332[positive regulation of chondrocyte differentiation] GO:0032731[positive regulation of interleukin-1 beta production] GO:0032810[sterol response element binding] GO:0032909[regulation of transforming growth factor beta2 production] GO:0032916[positive regulation of transforming growth factor beta3 production] GO:0032924[activin receptor signaling pathway] GO:0032991[protein-containing complex] GO:0033689[negative regulation of osteoblast proliferation] GO:0035259[nuclear glucocorticoid receptor binding] GO:0038092[nodal signaling pathway] GO:0042060[wound healing] GO:0042110[T cell activation] GO:0042177[negative regulation of protein catabolic process] GO:0042307[positive regulation of protein import into nucleus] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043066[negative regulation of apoptotic process] GO:0043130[ubiquitin binding] GO:0043235[receptor complex] GO:0043425[bHLH transcription factor binding] GO:0043565[sequence-specific DNA binding] GO:0045216[cell-cell junction organization] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045599[negative regulation of fat cell differentiation] GO:0045668[negative regulation of osteoblast differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0046872[metal ion binding] GO:0048340[paraxial mesoderm morphogenesis] GO:0048589[developmental growth] GO:0048617[embryonic foregut morphogenesis] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0050678[regulation of epithelial cell proliferation] GO:0050728[negative regulation of inflammatory response] GO:0050776[regulation of immune response] GO:0050821[protein stabilization] GO:0050927[positive regulation of positive chemotaxis] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051098[regulation of binding] GO:0051481[negative regulation of cytosolic calcium ion concentration] GO:0051496[positive regulation of stress fiber assembly] GO:0051894[positive regulation of focal adhesion assembly] GO:0060039[pericardium development] GO:0060290[transdifferentiation] GO:0060395[SMAD protein signal transduction] GO:0061045[negative regulation of wound healing] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061767[negative regulation of lung blood pressure] GO:0070306[lens fiber cell differentiation] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0071141[SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0097191[extrinsic apoptotic signaling pathway] GO:0097296[activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway] GO:0098586[cellular response to virus] GO:0140297[DNA-binding transcription factor binding] GO:1901203[positive regulation of extracellular matrix assembly] GO:1902893[regulation of miRNA transcription] GO:1902895[positive regulation of miRNA transcription] GO:1903243[negative regulation of cardiac muscle hypertrophy in response to stress] GO:1990841[promoter-specific chromatin binding]
P84022 [Direct mapping] Mothers against decapentaplegic homolog 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001217[DNA-binding transcription repressor activity] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001666[response to hypoxia] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005160[transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005637[nuclear inner membrane] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006955[immune response] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007183[SMAD protein complex assembly] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0016922[nuclear receptor binding] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0017151[DEAD/H-box RNA helicase binding] GO:0019901[protein kinase binding] GO:0019902[phosphatase binding] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0031053[primary miRNA processing] GO:0031625[ubiquitin protein ligase binding] GO:0031962[nuclear mineralocorticoid receptor binding] GO:0032810[sterol response element binding] GO:0032909[regulation of transforming growth factor beta2 production] GO:0032924[activin receptor signaling pathway] GO:0035259[nuclear glucocorticoid receptor binding] GO:0038092[nodal signaling pathway] GO:0042060[wound healing] GO:0042307[positive regulation of protein import into nucleus] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043130[ubiquitin binding] GO:0043235[receptor complex] GO:0043425[bHLH transcription factor binding] GO:0043565[sequence-specific DNA binding] GO:0045216[cell-cell junction organization] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045599[negative regulation of fat cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051481[negative regulation of cytosolic calcium ion concentration] GO:0060395[SMAD protein signal transduction] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0071141[SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0097191[extrinsic apoptotic signaling pathway] GO:0140297[DNA-binding transcription factor binding] GO:1901203[positive regulation of extracellular matrix assembly] GO:1902893[regulation of miRNA transcription] GO:1902895[positive regulation of miRNA transcription]
P84022 [Direct mapping] Mothers against decapentaplegic homolog 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001217[DNA-binding transcription repressor activity] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001666[response to hypoxia] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005160[transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005637[nuclear inner membrane] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006955[immune response] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007183[SMAD protein complex assembly] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0016922[nuclear receptor binding] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0017151[DEAD/H-box RNA helicase binding] GO:0019901[protein kinase binding] GO:0019902[phosphatase binding] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0031053[primary miRNA processing] GO:0031625[ubiquitin protein ligase binding] GO:0031962[nuclear mineralocorticoid receptor binding] GO:0032810[sterol response element binding] GO:0032909[regulation of transforming growth factor beta2 production] GO:0032924[activin receptor signaling pathway] GO:0035259[nuclear glucocorticoid receptor binding] GO:0038092[nodal signaling pathway] GO:0042060[wound healing] GO:0042307[positive regulation of protein import into nucleus] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043130[ubiquitin binding] GO:0043235[receptor complex] GO:0043425[bHLH transcription factor binding] GO:0043565[sequence-specific DNA binding] GO:0045216[cell-cell junction organization] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045599[negative regulation of fat cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051481[negative regulation of cytosolic calcium ion concentration] GO:0060395[SMAD protein signal transduction] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0071141[SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0097191[extrinsic apoptotic signaling pathway] GO:0140297[DNA-binding transcription factor binding] GO:1901203[positive regulation of extracellular matrix assembly] GO:1902893[regulation of miRNA transcription] GO:1902895[positive regulation of miRNA transcription]
P84022 [Direct mapping] Mothers against decapentaplegic homolog 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001217[DNA-binding transcription repressor activity] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001666[response to hypoxia] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005160[transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005637[nuclear inner membrane] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006955[immune response] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007183[SMAD protein complex assembly] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0016922[nuclear receptor binding] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0017151[DEAD/H-box RNA helicase binding] GO:0019901[protein kinase binding] GO:0019902[phosphatase binding] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0031053[primary miRNA processing] GO:0031625[ubiquitin protein ligase binding] GO:0031962[nuclear mineralocorticoid receptor binding] GO:0032810[sterol response element binding] GO:0032909[regulation of transforming growth factor beta2 production] GO:0032924[activin receptor signaling pathway] GO:0035259[nuclear glucocorticoid receptor binding] GO:0038092[nodal signaling pathway] GO:0042060[wound healing] GO:0042307[positive regulation of protein import into nucleus] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043130[ubiquitin binding] GO:0043235[receptor complex] GO:0043425[bHLH transcription factor binding] GO:0043565[sequence-specific DNA binding] GO:0045216[cell-cell junction organization] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045599[negative regulation of fat cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051481[negative regulation of cytosolic calcium ion concentration] GO:0060395[SMAD protein signal transduction] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0071141[SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0097191[extrinsic apoptotic signaling pathway] GO:0140297[DNA-binding transcription factor binding] GO:1901203[positive regulation of extracellular matrix assembly] GO:1902893[regulation of miRNA transcription] GO:1902895[positive regulation of miRNA transcription]
H0YNV1 [Direct mapping] Mothers against decapentaplegic homolog 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
H0YMP2 [Direct mapping] Mothers against decapentaplegic homolog 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
H0YKE2 [Direct mapping] Mothers against decapentaplegic homolog 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
H3BVD1 [Direct mapping] Mothers against decapentaplegic homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
H0YMY0 [Direct mapping] Mothers against decapentaplegic homolog 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
H0YL71 [Direct mapping] Mothers against decapentaplegic homolog 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
H3BP09 [Direct mapping] Mothers against decapentaplegic homolog 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
H3BQ00 [Direct mapping] Mothers against decapentaplegic homolog 3
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MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
P84022 [Direct mapping] Mothers against decapentaplegic homolog 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001217[DNA-binding transcription repressor activity] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001666[response to hypoxia] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005160[transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005637[nuclear inner membrane] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006955[immune response] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007183[SMAD protein complex assembly] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0016922[nuclear receptor binding] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0017151[DEAD/H-box RNA helicase binding] GO:0019901[protein kinase binding] GO:0019902[phosphatase binding] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0031053[primary miRNA processing] GO:0031625[ubiquitin protein ligase binding] GO:0031962[nuclear mineralocorticoid receptor binding] GO:0032810[sterol response element binding] GO:0032909[regulation of transforming growth factor beta2 production] GO:0032924[activin receptor signaling pathway] GO:0035259[nuclear glucocorticoid receptor binding] GO:0038092[nodal signaling pathway] GO:0042060[wound healing] GO:0042307[positive regulation of protein import into nucleus] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043130[ubiquitin binding] GO:0043235[receptor complex] GO:0043425[bHLH transcription factor binding] GO:0043565[sequence-specific DNA binding] GO:0045216[cell-cell junction organization] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045599[negative regulation of fat cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051481[negative regulation of cytosolic calcium ion concentration] GO:0060395[SMAD protein signal transduction] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0071141[SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0097191[extrinsic apoptotic signaling pathway] GO:0140297[DNA-binding transcription factor binding] GO:1901203[positive regulation of extracellular matrix assembly] GO:1902893[regulation of miRNA transcription] GO:1902895[positive regulation of miRNA transcription]
P84022 [Direct mapping] Mothers against decapentaplegic homolog 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001217[DNA-binding transcription repressor activity] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001666[response to hypoxia] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005160[transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005637[nuclear inner membrane] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006955[immune response] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007183[SMAD protein complex assembly] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0016922[nuclear receptor binding] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0017151[DEAD/H-box RNA helicase binding] GO:0019901[protein kinase binding] GO:0019902[phosphatase binding] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0031053[primary miRNA processing] GO:0031625[ubiquitin protein ligase binding] GO:0031962[nuclear mineralocorticoid receptor binding] GO:0032810[sterol response element binding] GO:0032909[regulation of transforming growth factor beta2 production] GO:0032924[activin receptor signaling pathway] GO:0035259[nuclear glucocorticoid receptor binding] GO:0038092[nodal signaling pathway] GO:0042060[wound healing] GO:0042307[positive regulation of protein import into nucleus] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043130[ubiquitin binding] GO:0043235[receptor complex] GO:0043425[bHLH transcription factor binding] GO:0043565[sequence-specific DNA binding] GO:0045216[cell-cell junction organization] GO:0045429[positive regulation of nitric oxide biosynthetic process] GO:0045599[negative regulation of fat cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051481[negative regulation of cytosolic calcium ion concentration] GO:0060395[SMAD protein signal transduction] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0071141[SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0097191[extrinsic apoptotic signaling pathway] GO:0140297[DNA-binding transcription factor binding] GO:1901203[positive regulation of extracellular matrix assembly] GO:1902893[regulation of miRNA transcription] GO:1902895[positive regulation of miRNA transcription]