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RNA category is based on mRNA expression levels in the analyzed samples (RNA assay description). The categories include: tissue/cell line enriched, group enriched, tissue/cell line enhanced, expressed in all, mixed and not detected. RNA category is calculated separately for The Cancer Genome Atlas (TCGA) data from cancer tissues and internally generated Human Protein Atlas (HPA) data from normal tissues and cell lines.
TCGA (cancer tissue):
Expressed in all
HPA (cell line):
Expressed in all
HPA (normal tissue):
Expressed in all
Protein evidencei
Protein evidence scores are generated from several independent sources and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence, or iv) not available.
Evidence at protein level
Protein expression normal tissuei
A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation.
"Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile.
Nuclear and cytoplasmic expression in most cell types.
IMMUNOHISTOCHEMISTRY DATA RELIABILITY
Data reliability descriptioni
Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.
Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene.
Reliability score - normal tissuesi
Reliability score (score description), divided into Enhanced, Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between antibody staining pattern, available RNA-Seq and gene/protein characterization data, as well as similarity between independent antibodies targeting the same protein.
Kaplan-Meier plots for all cancers where high expression of this gene has significant (p<0.001) association with patient survival are shown in this summary. Whether the prognosis is favourable or unfavourable is indicated in brackets. Each Kaplan-Meier plot is clickable and redirects to a detailed page that includes individual expression and survival data for patients with the selected cancer.
RNA expression overview shows RNA-seq data from The Cancer Genome Atlas (TCGA).
TCGA dataseti
RNA-seq data in 17 cancer types are reported as median FPKM (number Fragments Per Kilobase of exon per Million reads), generated by the The Cancer Genome Atlas (TCGA). RNA cancer tissue category is calculated based on mRNA expression levels across all 17 cancer tissues and include: cancer tissue enriched, cancer group enriched, cancer tissue enhanced, expressed in all, mixed and not detected. To access cancer specific RNA and prognostic data, click on the cancer name. The cancer types are color-coded according to which type of normal organ the cancer originates from.
Antibody staining in 20 different cancers is summarized by a selection of four standard cancer tissue samples representative of the overall staining pattern. From left: colorectal cancer, breast cancer, prostate cancer and lung cancer. An additional fifth image can be added as a complement. The assay and annotation is described here. Note that samples used for immunohistochemistry by the Human Protein Atlas do not correspond to samples in the TCGA dataset.
For each cancer, color-coded bars indicate the percentage of patients (maximum 12 patients) with high and medium protein expression level. The cancer types are color-coded according to which type of normal organ the cancer originates from. Low or not detected protein expression results in a white bar. Mouse-over function shows details about expression level and normal tissue of origin. The images and annotations can be accessed by clicking on the cancer name or protein expression bar. If more than one antibody is analyzed, the tabs at the top of the staining summary section can be used to toggle between the different antibodies.
Few cases of gliomas, melanomas, lymphomas, skin, urothelial, testicular and renal cancers showed moderate nuclear and/or cytoplasmic positivity. Other cancers tissues were in general weakly stained or negative.
Most cancers showed moderate nuclear positivity. Cases of colorectal, endometrial, ovarian, renal and thyroid cancers showed cases with strong immunoreactivity.
A rare case of melanoma displayed strong cytoplasmic staining. Several cases of melanomas, colorectal, liver and breast cancers exhibited weak to moderate cytoplasmic staining. Nuclear positivity was noted in few squamous cell carcinomas and testicular cancers. Remaining cancer tissues were mostly negative.
GENE INFORMATIONi
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.
Gene name
SMAD2 (HGNC Symbol)
Synonyms
JV18-1, MADH2, MADR2
Description
SMAD family member 2 (HGNC Symbol)
Entrez gene summary
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]
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
SMAD2-001
SMAD2-002
SMAD2-003
SMAD2-004
SMAD2-005
SMAD2-006
SMAD2-007
SMAD2-008
SMAD2-009
SMAD2-201
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 Q53XR6 [Target identity:100%; Query identity:100%] Mothers against decapentaplegic homolog
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Predicted intracellular proteins 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 Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000790 [nuclear chromatin] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001657 [ureteric bud development] GO:0001701 [in utero embryonic development] GO:0001706 [endoderm formation] GO:0001707 [mesoderm formation] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003690 [double-stranded DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005160 [transforming growth factor beta receptor binding] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] 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:0008134 [transcription factor binding] GO:0008285 [negative regulation of cell proliferation] 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:0016579 [protein deubiquitination] 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:0030324 [lung development] GO:0030512 [negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030513 [positive regulation of BMP signaling pathway] GO:0030618 [transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity] 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:0033613 [activating transcription factor binding] GO:0034713 [type I transforming growth factor beta receptor binding] GO:0035019 [somatic stem cell population maintenance] GO:0035265 [organ growth] GO:0035326 [enhancer binding] GO:0035556 [intracellular signal transduction] GO:0038092 [nodal signaling pathway] GO:0042803 [protein homodimerization activity] GO:0043234 [protein complex] GO:0045165 [cell fate commitment] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046332 [SMAD binding] GO:0046872 [metal ion binding] GO:0046982 [protein heterodimerization activity] 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:0060021 [palate development] GO:0060039 [pericardium development] GO:0060395 [SMAD protein signal transduction] 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:0071144 [SMAD2-SMAD3 protein complex] 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 Q53XR6 [Target identity:100%; Query identity:100%] Mothers against decapentaplegic homolog
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Predicted intracellular proteins 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 Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000790 [nuclear chromatin] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001707 [mesoderm formation] GO:0003677 [DNA binding] GO:0003690 [double-stranded DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005160 [transforming growth factor beta receptor binding] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] 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:0008134 [transcription factor binding] GO:0009952 [anterior/posterior pattern specification] GO:0010718 [positive regulation of epithelial to mesenchymal transition] GO:0016579 [protein deubiquitination] GO:0017015 [regulation of transforming growth factor beta receptor signaling pathway] GO:0019902 [phosphatase binding] GO:0030512 [negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030513 [positive regulation of BMP signaling pathway] GO:0030618 [transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity] GO:0031053 [primary miRNA processing] GO:0031625 [ubiquitin protein ligase binding] GO:0032444 [activin responsive factor complex] GO:0032924 [activin receptor signaling pathway] GO:0033613 [activating transcription factor binding] GO:0034713 [type I transforming growth factor beta receptor binding] GO:0035019 [somatic stem cell population maintenance] GO:0035326 [enhancer binding] GO:0035556 [intracellular signal transduction] GO:0038092 [nodal signaling pathway] GO:0045165 [cell fate commitment] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046332 [SMAD binding] GO:0046872 [metal ion binding] GO:0048340 [paraxial mesoderm morphogenesis] GO:0051098 [regulation of binding] GO:0060021 [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:0071144 [SMAD2-SMAD3 protein complex] 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
Show all
Predicted intracellular proteins 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 Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000790 [nuclear chromatin] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001707 [mesoderm formation] GO:0003677 [DNA binding] GO:0003690 [double-stranded DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005160 [transforming growth factor beta receptor binding] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] 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:0008134 [transcription factor binding] GO:0009952 [anterior/posterior pattern specification] GO:0010718 [positive regulation of epithelial to mesenchymal transition] GO:0016579 [protein deubiquitination] GO:0017015 [regulation of transforming growth factor beta receptor signaling pathway] GO:0019902 [phosphatase binding] GO:0030512 [negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030513 [positive regulation of BMP signaling pathway] GO:0030618 [transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity] GO:0031053 [primary miRNA processing] GO:0031625 [ubiquitin protein ligase binding] GO:0032444 [activin responsive factor complex] GO:0032924 [activin receptor signaling pathway] GO:0033613 [activating transcription factor binding] GO:0034713 [type I transforming growth factor beta receptor binding] GO:0035019 [somatic stem cell population maintenance] GO:0035326 [enhancer binding] GO:0035556 [intracellular signal transduction] GO:0038092 [nodal signaling pathway] GO:0045165 [cell fate commitment] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046332 [SMAD binding] GO:0046872 [metal ion binding] GO:0048340 [paraxial mesoderm morphogenesis] GO:0051098 [regulation of binding] GO:0060021 [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:0071144 [SMAD2-SMAD3 protein complex] GO:1900224 [positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry]
K7EL92 [Direct mapping] Mothers against decapentaplegic homolog 2
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Predicted intracellular proteins 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 Protein evidence (Ezkurdia et al 2014)
K7ESI8 [Direct mapping] Mothers against decapentaplegic homolog 2
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Predicted intracellular proteins 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 Protein evidence (Ezkurdia et al 2014)
Q15796 [Direct mapping] Mothers against decapentaplegic homolog 2
Show all
Predicted intracellular proteins 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 Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000790 [nuclear chromatin] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001707 [mesoderm formation] GO:0003677 [DNA binding] GO:0003690 [double-stranded DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005160 [transforming growth factor beta receptor binding] GO:0005515 [protein binding] GO:0005622 [intracellular] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] 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:0008134 [transcription factor binding] GO:0009952 [anterior/posterior pattern specification] GO:0010718 [positive regulation of epithelial to mesenchymal transition] GO:0016579 [protein deubiquitination] GO:0017015 [regulation of transforming growth factor beta receptor signaling pathway] GO:0019902 [phosphatase binding] GO:0030512 [negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030513 [positive regulation of BMP signaling pathway] GO:0030618 [transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity] GO:0031053 [primary miRNA processing] GO:0031625 [ubiquitin protein ligase binding] GO:0032444 [activin responsive factor complex] GO:0032924 [activin receptor signaling pathway] GO:0033613 [activating transcription factor binding] GO:0034713 [type I transforming growth factor beta receptor binding] GO:0035019 [somatic stem cell population maintenance] GO:0035326 [enhancer binding] GO:0035556 [intracellular signal transduction] GO:0038092 [nodal signaling pathway] GO:0045165 [cell fate commitment] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046332 [SMAD binding] GO:0046872 [metal ion binding] GO:0048340 [paraxial mesoderm morphogenesis] GO:0051098 [regulation of binding] GO:0060021 [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:0071144 [SMAD2-SMAD3 protein complex] GO:1900224 [positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry]
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