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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).
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
15
Cytoband
q22.31
Chromosome location (bp)
66702236 - 66782849
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transforming growth factor-beta superfamily receptors signaling occurs through the Smad family of intracellular mediators. SMAD6 is an inhibitory Smad (i-Smad) that negatively regulates signaling downstream of type I transforming growth factor-beta 1,2,3,4,5,6,7,8. Acts as a mediator of TGF-beta and BMP anti-inflammatory activities. Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear transport and NF-kappa-B-mediated expression of pro-inflammatory genes 9. Blocks the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding 10,11. Binds to regulatory elements in target promoter regions 12....show less
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 family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]...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.
O43541 [Direct mapping] Mothers against decapentaplegic homolog 6
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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 Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0001657[ureteric bud development] GO:0003148[outflow tract septum morphogenesis] GO:0003170[heart valve development] GO:0003180[aortic valve morphogenesis] GO:0003183[mitral valve morphogenesis] GO:0003184[pulmonary valve morphogenesis] GO:0003281[ventricular septum development] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006955[immune response] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007352[zygotic specification of dorsal/ventral axis] GO:0008285[negative regulation of cell population proliferation] GO:0009653[anatomical structure morphogenesis] GO:0010991[negative regulation of SMAD protein complex assembly] GO:0016604[nuclear body] GO:0030154[cell differentiation] GO:0030279[negative regulation of ossification] GO:0030509[BMP signaling pathway] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030514[negative regulation of BMP signaling pathway] GO:0031589[cell-substrate adhesion] GO:0031625[ubiquitin protein ligase binding] GO:0032496[response to lipopolysaccharide] GO:0032991[protein-containing complex] GO:0034616[response to laminar fluid shear stress] GO:0034713[type I transforming growth factor beta receptor binding] GO:0035904[aorta development] GO:0042802[identical protein binding] GO:0043066[negative regulation of apoptotic process] GO:0043627[response to estrogen] GO:0045444[fat cell differentiation] GO:0045668[negative regulation of osteoblast differentiation] GO:0046872[metal ion binding] GO:0060394[negative regulation of pathway-restricted SMAD protein phosphorylation] GO:0060395[SMAD protein signal transduction] GO:0060976[coronary vasculature development] GO:0070410[co-SMAD binding] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0070698[type I activin receptor binding] GO:0071144[heteromeric SMAD protein complex] GO:0140416[transcription regulator inhibitor activity] GO:1902895[positive regulation of miRNA transcription]
H0YK80 [Direct mapping] Mothers against decapentaplegic homolog 6
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the circulatory system Other congenital malformations
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