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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
18
Cytoband
q21.2
Chromosome location (bp)
51028394 - 51085045
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'- GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (By similarity). Common SMAD (co-SMAD) is the coactivator and mediator of signal transduction by TGF-beta (transforming growth factor). Component of the heterotrimeric SMAD2/SMAD3-SMAD4 complex that forms in the nucleus and is required for the TGF-mediated signaling 1. Promotes binding of the SMAD2/SMAD4/FAST-1 complex to DNA and provides an activation function required for SMAD1 or SMAD2 to stimulate transcription. Component of the multimeric SMAD3/SMAD4/JUN/FOS complex which forms at the AP1 promoter site; required for synergistic transcriptional activity in response to TGF-beta. May act as a tumor suppressor. 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
This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasing blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q13485 [Direct mapping] Mothers against decapentaplegic homolog 4
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A0A024R274 [Target identity:100%; Query identity:100%] Mothers against decapentaplegic homolog
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SCAMPI predicted membrane proteins 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 Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Digestive system diseases Gastrointestinal diseases 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: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:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001541[ovarian follicle development] GO:0001649[osteoblast differentiation] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001666[response to hypoxia] GO:0001701[in utero embryonic development] GO:0001702[gastrulation with mouth forming second] GO:0001822[kidney development] GO:0001837[epithelial to mesenchymal transition] GO:0003148[outflow tract septum morphogenesis] GO:0003161[cardiac conduction system development] GO:0003190[atrioventricular valve formation] GO:0003198[epithelial to mesenchymal transition involved in endocardial cushion formation] GO:0003220[left ventricular cardiac muscle tissue morphogenesis] GO:0003251[positive regulation of cell proliferation involved in heart valve morphogenesis] GO:0003279[cardiac septum development] GO:0003360[brainstem development] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005518[collagen binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0006879[cellular iron ion homeostasis] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007183[SMAD protein complex assembly] GO:0007283[spermatogenesis] GO:0007338[single fertilization] GO:0007369[gastrulation] GO:0007411[axon guidance] GO:0007492[endoderm development] GO:0007498[mesoderm development] GO:0007568[aging] GO:0008283[cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0008584[male gonad development] GO:0008585[female gonad development] GO:0009653[anatomical structure morphogenesis] GO:0009952[anterior/posterior pattern specification] GO:0010614[negative regulation of cardiac muscle hypertrophy] GO:0010631[epithelial cell migration] GO:0010666[positive regulation of cardiac muscle cell apoptotic process] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0014033[neural crest cell differentiation] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0030325[adrenal gland development] GO:0030509[BMP signaling pathway] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030513[positive regulation of BMP signaling pathway] GO:0031005[filamin binding] GO:0032444[activin responsive factor complex] GO:0032525[somite rostral/caudal axis specification] GO:0032909[regulation of transforming growth factor beta2 production] GO:0032924[activin receptor signaling pathway] GO:0032991[protein-containing complex] GO:0033686[positive regulation of luteinizing hormone secretion] GO:0035556[intracellular signal transduction] GO:0036302[atrioventricular canal development] GO:0042060[wound healing] GO:0042118[endothelial cell activation] GO:0042127[regulation of cell population proliferation] GO:0042177[negative regulation of protein catabolic process] GO:0042733[embryonic digit morphogenesis] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043199[sulfate binding] GO:0043565[sequence-specific DNA binding] 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:0046881[positive regulation of follicle-stimulating hormone secretion] GO:0048589[developmental growth] GO:0048663[neuron fate commitment] GO:0048729[tissue morphogenesis] GO:0048733[sebaceous gland development] GO:0048859[formation of anatomical boundary] GO:0051098[regulation of binding] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0051797[regulation of hair follicle development] GO:0060065[uterus development] GO:0060391[positive regulation of SMAD protein signal transduction] GO:0060395[SMAD protein signal transduction] GO:0060412[ventricular septum morphogenesis] GO:0060548[negative regulation of cell death] GO:0060956[endocardial cell differentiation] GO:0061040[female gonad morphogenesis] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0062009[secondary palate development] GO:0070102[interleukin-6-mediated signaling pathway] GO:0070371[ERK1 and ERK2 cascade] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0071141[SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:0071333[cellular response to glucose stimulus] GO:0071559[response to transforming growth factor beta] GO:0071773[cellular response to BMP stimulus] GO:0072133[metanephric mesenchyme morphogenesis] GO:0072134[nephrogenic mesenchyme morphogenesis] GO:0072520[seminiferous tubule development] GO:0090575[RNA polymerase II transcription regulator complex] GO:1901522[positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus] GO:1902895[positive regulation of miRNA transcription] GO:1905305[negative regulation of cardiac myofibril assembly] GO:2000617[positive regulation of histone H3-K9 acetylation]
Q13485 [Direct mapping] Mothers against decapentaplegic homolog 4
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A0A024R274 [Target identity:100%; Query identity:100%] Mothers against decapentaplegic homolog
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SCAMPI predicted membrane proteins 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 Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Digestive system diseases Gastrointestinal diseases 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:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001666[response to hypoxia] GO:0001837[epithelial to mesenchymal transition] GO:0003148[outflow tract septum morphogenesis] GO:0003161[cardiac conduction system development] GO:0003190[atrioventricular valve formation] GO:0003220[left ventricular cardiac muscle tissue morphogenesis] GO:0003251[positive regulation of cell proliferation involved in heart valve morphogenesis] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005829[cytosol] GO:0006351[DNA-templated transcription] GO:0006355[regulation of DNA-templated transcription] GO:0006879[cellular iron ion homeostasis] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007183[SMAD protein complex assembly] GO:0008283[cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010614[negative regulation of cardiac muscle hypertrophy] GO:0010631[epithelial cell migration] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0017015[regulation of transforming growth factor beta receptor signaling pathway] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0030509[BMP signaling pathway] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030513[positive regulation of BMP signaling pathway] GO:0032444[activin responsive factor complex] GO:0032909[regulation of transforming growth factor beta2 production] GO:0032924[activin receptor signaling pathway] GO:0035556[intracellular signal transduction] GO:0036302[atrioventricular canal development] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043199[sulfate binding] GO:0043565[sequence-specific DNA binding] 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:0046872[metal ion binding] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0060391[positive regulation of SMAD protein signal transduction] GO:0060395[SMAD protein signal transduction] GO:0060412[ventricular septum morphogenesis] GO:0060956[endocardial cell differentiation] GO:0062009[secondary palate development] GO:0070102[interleukin-6-mediated signaling pathway] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0071141[SMAD protein complex] GO:0071144[heteromeric SMAD protein complex] GO:0071559[response to transforming growth factor beta] GO:0071773[cellular response to BMP stimulus] GO:1901522[positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus] GO:1905305[negative regulation of cardiac myofibril assembly] GO:2000617[positive regulation of histone H3-K9 acetylation]
K7EIU8 [Direct mapping] Mothers against decapentaplegic homolog
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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 COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
K7EL18 [Direct mapping] Mothers against decapentaplegic homolog 4
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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 COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
K7ENG1 [Direct mapping] Mothers against decapentaplegic homolog 4
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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 COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
K7EL15 [Direct mapping] Mothers against decapentaplegic homolog 4
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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 COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
K7EIJ2 [Direct mapping] Mothers against decapentaplegic homolog 4
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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 COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
K7ELK2 [Direct mapping] Mothers against decapentaplegic homolog 4
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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 COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
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