We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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.
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.
The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).
In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl
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.
Below 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.
SMAD4-201
SMAD4-202
SMAD4-205
SMAD4-206
SMAD4-207
SMAD4-209
SMAD4-210
SMAD4-215
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.
Q13485 [Direct mapping] Mothers against decapentaplegic homolog 4 A0A024R274 [Target identity:100%; Query identity:100%] Mothers against decapentaplegic homolog
Show all
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)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II] GO:0000785 [chromatin] GO:0000976 [transcription regulatory region sequence-specific DNA 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:0001085 [RNA polymerase II transcription factor binding] GO:0001223 [transcription coactivator binding] GO:0001228 [DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001541 [ovarian follicle development] 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:0003148 [outflow tract septum morphogenesis] 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:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of 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: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: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:0016579 [protein deubiquitination] 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:0032525 [somite rostral/caudal axis specification] GO:0032909 [regulation of transforming growth factor beta2 production] GO:0033686 [positive regulation of luteinizing hormone secretion] GO:0035019 [somatic stem cell population maintenance] GO:0035556 [intracellular signal transduction] GO:0036302 [atrioventricular canal development] GO:0042118 [endothelial cell activation] GO:0042127 [regulation of cell population proliferation] 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 transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0046872 [metal ion binding] GO:0046881 [positive regulation of follicle-stimulating hormone secretion] GO:0048382 [mesendoderm development] 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: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:0072133 [metanephric mesenchyme morphogenesis] GO:0072134 [nephrogenic mesenchyme morphogenesis] GO:0072520 [seminiferous tubule development] GO:0090575 [RNA polymerase II transcription regulator complex] GO:0140537 [] GO:1901522 [positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus] GO:1902895 [positive regulation of pri-miRNA transcription by RNA polymerase II] 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 A0A024R274 [Target identity:100%; Query identity:100%] Mothers against decapentaplegic homolog
Show all
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)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II] GO:0000785 [chromatin] GO:0000976 [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:0001666 [response to hypoxia] GO:0003148 [outflow tract septum morphogenesis] 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:0006355 [regulation of transcription, DNA-templated] GO:0006879 [cellular iron ion homeostasis] GO:0007179 [transforming growth factor beta receptor signaling pathway] GO:0007183 [SMAD protein complex assembly] GO:0009653 [anatomical structure morphogenesis] GO:0010614 [negative regulation of cardiac muscle hypertrophy] GO:0010718 [positive regulation of epithelial to mesenchymal transition] GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0016579 [protein deubiquitination] 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:0035019 [somatic stem cell population maintenance] 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 transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] 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
Show all
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
Show all
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
Show all
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
Show all
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
Show all
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
Show all
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)
The Human Protein Atlas project is funded
