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The RNA tissue category is based on mRNA expression levels in the analyzed tissues (RNA assay description). The categories include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected. RNA tissue category is calculated separately both for internally generated Human Protein Atlas (HPA) RNA-seq data, as well as RNA-seq data from the Genotype-Tissue Expression (GTEx) project and CAGE data from FANTOM5 project.
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 expressioni
A summary of the overall protein expression pattern across the analyzed 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.
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 scorei
Reliability score (score description), divided into Supported, Approved, or Uncertain, is based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.
Below is an overview of RNA and protein expression data generated in the Human Protein Atlas project. Analyzed tissues are divided into color-coded groups according to which functional features they have in common. For each group, a list of included tissues is accessed by clicking on group name, group symbol, RNA bar, or protein bar. Subsequent selection of a particular tissue in this list links to the image data page. Images of selected tissues give a visual summary of the protein expression profile furthest to the right. The gray human body provides links to a histology dictionary when clicking on any part of the figure.
RNA expression (TPM)i
RNA-seq results generated in HPA are reported as number of transcripts per million (TPM). Each bar represents the highest expression score found in a particular group of tissues. The assay is described more in detail in Assays & Annotation.
Protein expression (score)i
Each bar represents the highest expression score found in a particular group of tissues. Protein expression scores are based on a best estimate of the "true" protein expression from a knowledge-based annotation, described more in detail under Assays & annotation. For genes where more than one antibody has been used, a collective score is set displaying the estimated true protein expression.
Protein expression data is shown for each of the 44 tissues. The color-coding is based on tissues with functional features in common. Mouse-over function shows protein score for analyzed cell types found in a selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in detail in Assays & annotation.
For genes with available protein data for which a knowledge-based annotation gave inconclusive results, no protein expression data is displayed in the protein expression data overview, however, all immunohistochemical images are still available and the annotation data can be found under Primary data.
Organ
Expression
Alphabetical
RNA EXPRESSION OVERVIEWi
RNA expression overview shows RNA-data from three different sources: Internally generated Human Protein Atlas (HPA) RNA-seq data, RNA-seq data from the Genotype-Tissue Expression (GTEx) project and CAGE data from FANTOM5 project. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar.
HPA dataseti
HPA dataset RNA-seq tissue data is reported as mean TPM (transcripts per million), corresponding to mean values of the different individual samples from each tissue. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar. The RNA-seq assay is described in detail in Assays & Annotation.
RNA tissue category HPA HPA RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataseti
GTEx dataset RNA-seq data are reported as median RPKM (reads per kilobase per million mapped reads), generated by the Genotype-Tissue Expression (GTEx) project. More information can be found in Assays & Annotation.
RNA tissue category GTEx GTEx RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataseti
FANTOM5 dataset Tissue data obtained through Cap Analysis of Gene Expression (CAGE) are reported as Tags Per Million, generated by the FANTOM5 project. More information can be found in Assays & Annotation.
RNA tissue category FANTOM5 FANTOM5 RNA tissue category (category description) is calculated based on gene expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
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) (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
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 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:0006367 [transcription initiation 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:0010467 [gene expression] 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: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
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 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:0006367 [transcription initiation 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:0010467 [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: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 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:0006367 [transcription initiation 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:0010467 [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: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]
K7EJX0 [Direct mapping] Mothers against decapentaplegic homolog 2
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SCAMPI predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes 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 Cancer-related genes Mutated cancer genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014)
K7EJX0 [Direct mapping] Mothers against decapentaplegic homolog 2
Show all
SCAMPI predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes 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 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:0006367 [transcription initiation 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:0010467 [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: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]
