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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 Plasma proteins 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
18
Cytoband
q21.1
Chromosome location (bp)
47808957 - 47931146
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 SMAD2/SMAD4 complex, activates transcription. May act as a tumor suppressor in colorectal carcinoma. 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.
Transcription, Transcription regulation
Ligand (UniProt)i
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 protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]...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.
Q15796 [Direct mapping] Mothers against decapentaplegic homolog 2
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Q53XR6 [Target identity:100%; Query identity:100%] Mothers against decapentaplegic homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system 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:0000785[chromatin] 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001657[ureteric bud development] GO:0001701[in utero embryonic development] GO:0001706[endoderm formation] GO:0001707[mesoderm formation] GO:0003180[aortic valve morphogenesis] GO:0003184[pulmonary valve morphogenesis] GO:0003203[endocardial cushion morphogenesis] 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:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006468[protein phosphorylation] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007182[common-partner SMAD protein phosphorylation] GO:0007183[SMAD protein complex assembly] GO:0007352[zygotic specification of dorsal/ventral axis] GO:0007369[gastrulation] GO:0007389[pattern specification process] GO:0007492[endoderm development] GO:0007507[heart development] GO:0008285[negative regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0009749[response to glucose] GO:0009791[post-embryonic development] GO:0009880[embryonic pattern specification] GO:0009952[anterior/posterior pattern specification] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0019902[phosphatase binding] GO:0023019[signal transduction involved in regulation of gene expression] GO:0030073[insulin secretion] GO:0030154[cell differentiation] GO:0030324[lung development] GO:0030325[adrenal gland development] GO:0030513[positive regulation of BMP signaling pathway] GO:0031016[pancreas development] GO:0031053[primary miRNA processing] GO:0031625[ubiquitin protein ligase binding] GO:0032444[activin responsive factor complex] GO:0032924[activin receptor signaling pathway] GO:0032991[protein-containing complex] GO:0034713[type I transforming growth factor beta receptor binding] GO:0035265[organ growth] GO:0035556[intracellular signal transduction] GO:0038092[nodal signaling pathway] GO:0042060[wound healing] GO:0042802[identical protein binding] GO:0045165[cell fate commitment] GO:0045892[negative regulation of DNA-templated transcription] 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:0048156[tau protein binding] GO:0048340[paraxial mesoderm morphogenesis] GO:0048589[developmental growth] GO:0048617[embryonic foregut morphogenesis] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0051098[regulation of binding] GO:0060039[pericardium development] GO:0060395[SMAD protein signal transduction] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0062009[secondary palate development] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0070723[response to cholesterol] GO:0071141[SMAD protein complex] GO:0071142[homomeric SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:0097718[disordered domain specific binding] GO:0140297[DNA-binding transcription factor binding] GO:1900224[positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry]
Q15796 [Direct mapping] Mothers against decapentaplegic homolog 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system 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:0000785[chromatin] 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001707[mesoderm formation] GO:0003180[aortic valve morphogenesis] GO:0003184[pulmonary valve morphogenesis] GO:0003203[endocardial cushion morphogenesis] GO:0003677[DNA 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:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007182[common-partner SMAD protein phosphorylation] GO:0007183[SMAD protein complex assembly] GO:0007352[zygotic specification of dorsal/ventral axis] GO:0007369[gastrulation] GO:0009653[anatomical structure morphogenesis] GO:0009952[anterior/posterior pattern specification] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0019902[phosphatase binding] GO:0030154[cell differentiation] GO:0030513[positive regulation of BMP signaling pathway] GO:0031053[primary miRNA processing] GO:0031625[ubiquitin protein ligase binding] GO:0032444[activin responsive factor complex] GO:0032924[activin receptor signaling pathway] GO:0032991[protein-containing complex] GO:0034713[type I transforming growth factor beta receptor binding] GO:0035556[intracellular signal transduction] GO:0038092[nodal signaling pathway] GO:0045165[cell fate commitment] GO:0045892[negative regulation of DNA-templated transcription] 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:0048156[tau protein binding] GO:0048340[paraxial mesoderm morphogenesis] GO:0051098[regulation of binding] GO:0060395[SMAD protein signal transduction] GO:0062009[secondary palate development] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0070723[response to cholesterol] GO:0071141[SMAD protein complex] GO:0071142[homomeric SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:0097718[disordered domain specific binding] GO:0140297[DNA-binding transcription factor binding] GO:1900224[positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry]
Q15796 [Direct mapping] Mothers against decapentaplegic homolog 2
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Q53XR6 [Target identity:100%; Query identity:100%] Mothers against decapentaplegic homolog
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system 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)
Show all
GO:0000785[chromatin] 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001707[mesoderm formation] GO:0003180[aortic valve morphogenesis] GO:0003184[pulmonary valve morphogenesis] GO:0003203[endocardial cushion morphogenesis] GO:0003677[DNA 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:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007182[common-partner SMAD protein phosphorylation] GO:0007183[SMAD protein complex assembly] GO:0007352[zygotic specification of dorsal/ventral axis] GO:0007369[gastrulation] GO:0009653[anatomical structure morphogenesis] GO:0009952[anterior/posterior pattern specification] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0019902[phosphatase binding] GO:0030154[cell differentiation] GO:0030513[positive regulation of BMP signaling pathway] GO:0031053[primary miRNA processing] GO:0031625[ubiquitin protein ligase binding] GO:0032444[activin responsive factor complex] GO:0032924[activin receptor signaling pathway] GO:0032991[protein-containing complex] GO:0034713[type I transforming growth factor beta receptor binding] GO:0035556[intracellular signal transduction] GO:0038092[nodal signaling pathway] GO:0045165[cell fate commitment] GO:0045892[negative regulation of DNA-templated transcription] 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:0048156[tau protein binding] GO:0048340[paraxial mesoderm morphogenesis] GO:0051098[regulation of binding] GO:0060395[SMAD protein signal transduction] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0062009[secondary palate development] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0070723[response to cholesterol] GO:0071141[SMAD protein complex] GO:0071142[homomeric SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:0097718[disordered domain specific binding] GO:0140297[DNA-binding transcription factor binding] GO:1900224[positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry]
K7ESI8 [Direct mapping] Mothers against decapentaplegic homolog 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
Q15796 [Direct mapping] Mothers against decapentaplegic homolog 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors beta-Hairpin exposed by an alpha/beta-scaffold Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000785[chromatin] 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001707[mesoderm formation] GO:0003180[aortic valve morphogenesis] GO:0003184[pulmonary valve morphogenesis] GO:0003203[endocardial cushion morphogenesis] GO:0003677[DNA 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:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007182[common-partner SMAD protein phosphorylation] GO:0007183[SMAD protein complex assembly] GO:0007352[zygotic specification of dorsal/ventral axis] GO:0007369[gastrulation] GO:0009653[anatomical structure morphogenesis] GO:0009952[anterior/posterior pattern specification] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0019902[phosphatase binding] GO:0030154[cell differentiation] GO:0030513[positive regulation of BMP signaling pathway] GO:0031053[primary miRNA processing] GO:0031625[ubiquitin protein ligase binding] GO:0032444[activin responsive factor complex] GO:0032924[activin receptor signaling pathway] GO:0032991[protein-containing complex] GO:0034713[type I transforming growth factor beta receptor binding] GO:0035556[intracellular signal transduction] GO:0038092[nodal signaling pathway] GO:0045165[cell fate commitment] GO:0045892[negative regulation of DNA-templated transcription] 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:0048156[tau protein binding] GO:0048340[paraxial mesoderm morphogenesis] GO:0051098[regulation of binding] GO:0060395[SMAD protein signal transduction] GO:0062009[secondary palate development] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0070723[response to cholesterol] GO:0071141[SMAD protein complex] GO:0071142[homomeric SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:0097718[disordered domain specific binding] GO:0140297[DNA-binding transcription factor binding] GO:1900224[positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry]
K7EJX0 [Direct mapping] Mothers against decapentaplegic homolog 2
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SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
K7EJX0 [Direct mapping] Mothers against decapentaplegic homolog 2
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SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
K7ERC7 [Direct mapping] Mothers against decapentaplegic homolog 2
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SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
K7EL92 [Direct mapping] Mothers against decapentaplegic homolog 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)