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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 Enzymes Human disease related genes Potential drug targets
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
9
Cytoband
q22.33
Chromosome location (bp)
99104038 - 99154192
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. For instance, TGFBR1 induces TRAF6 autoubiquitination which in turn results in MAP3K7 ubiquitination and activation to trigger apoptosis. Also regulates epithelial to mesenchymal transition through a SMAD-independent signaling pathway through PARD6A phosphorylation and activation....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]...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 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.
Enzymes ENZYME proteins Transferases Kinases TKL Ser/Thr protein kinases MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the circulatory system 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:0000166[nucleotide binding] GO:0001501[skeletal system development] GO:0001701[in utero embryonic development] GO:0001822[kidney development] GO:0001837[epithelial to mesenchymal transition] GO:0001938[positive regulation of endothelial cell proliferation] GO:0003222[ventricular trabecula myocardium morphogenesis] GO:0003223[ventricular compact myocardium morphogenesis] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0004675[transmembrane receptor protein serine/threonine kinase activity] GO:0005024[transforming growth factor beta receptor activity] GO:0005025[transforming growth factor beta receptor activity, type I] GO:0005114[type II transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005768[endosome] GO:0005886[plasma membrane] GO:0005923[bicellular tight junction] GO:0006355[regulation of DNA-templated transcription] GO:0006468[protein phosphorylation] GO:0006915[apoptotic process] GO:0007165[signal transduction] GO:0007178[transmembrane receptor protein serine/threonine kinase signaling pathway] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007399[nervous system development] GO:0007507[heart development] GO:0008284[positive regulation of cell population proliferation] GO:0008354[germ cell migration] GO:0009952[anterior/posterior pattern specification] GO:0009986[cell surface] GO:0010628[positive regulation of gene expression] GO:0010717[regulation of epithelial to mesenchymal transition] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016361[activin receptor activity, type I] GO:0016740[transferase activity] GO:0018105[peptidyl-serine phosphorylation] GO:0018107[peptidyl-threonine phosphorylation] GO:0019838[growth factor binding] GO:0030154[cell differentiation] GO:0030199[collagen fibril organization] GO:0030307[positive regulation of cell growth] GO:0030335[positive regulation of cell migration] GO:0031396[regulation of protein ubiquitination] GO:0032331[negative regulation of chondrocyte differentiation] GO:0032924[activin receptor signaling pathway] GO:0035556[intracellular signal transduction] GO:0042060[wound healing] GO:0042118[endothelial cell activation] GO:0043062[extracellular structure organization] GO:0043167[ion binding] GO:0043235[receptor complex] GO:0043410[positive regulation of MAPK cascade] GO:0045121[membrane raft] GO:0045893[positive regulation of DNA-templated transcription] GO:0046332[SMAD binding] GO:0046872[metal ion binding] GO:0048179[activin receptor complex] GO:0048185[activin binding] GO:0048538[thymus development] GO:0048663[neuron fate commitment] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0048705[skeletal system morphogenesis] GO:0048762[mesenchymal cell differentiation] GO:0048844[artery morphogenesis] GO:0048870[cell motility] GO:0050431[transforming growth factor beta binding] GO:0051171[regulation of nitrogen compound metabolic process] GO:0051496[positive regulation of stress fiber assembly] GO:0051726[regulation of cell cycle] GO:0051897[positive regulation of protein kinase B signaling] GO:0060017[parathyroid gland development] GO:0060021[roof of mouth development] GO:0060037[pharyngeal system development] GO:0060043[regulation of cardiac muscle cell proliferation] GO:0060255[regulation of macromolecule metabolic process] GO:0060317[cardiac epithelial to mesenchymal transition] GO:0060389[pathway-restricted SMAD protein phosphorylation] GO:0060391[positive regulation of SMAD protein signal transduction] GO:0060412[ventricular septum morphogenesis] GO:0060978[angiogenesis involved in coronary vascular morphogenesis] GO:0060982[coronary artery morphogenesis] GO:0070021[transforming growth factor beta ligand-receptor complex] GO:0070161[anchoring junction] GO:0070411[I-SMAD binding] GO:0070723[response to cholesterol] GO:0071363[cellular response to growth factor stimulus] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0080090[regulation of primary metabolic process] GO:0098802[plasma membrane signaling receptor complex] GO:1905007[positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation] GO:1905075[positive regulation of tight junction disassembly] GO:1905223[epicardium morphogenesis] GO:2001235[positive regulation of apoptotic signaling pathway] GO:2001237[negative regulation of extrinsic apoptotic signaling pathway]
Q5T7S2 [Target identity:100%; Query identity:100%] Receptor protein serine/threonine kinase
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Enzymes ENZYME proteins Transferases Kinases TKL Ser/Thr protein kinases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the circulatory system 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:0000166[nucleotide binding] GO:0001501[skeletal system development] GO:0001525[angiogenesis] GO:0001701[in utero embryonic development] GO:0001822[kidney development] GO:0001824[blastocyst development] GO:0001837[epithelial to mesenchymal transition] GO:0001935[endothelial cell proliferation] GO:0001937[negative regulation of endothelial cell proliferation] GO:0001938[positive regulation of endothelial cell proliferation] GO:0002088[lens development in camera-type eye] GO:0003222[ventricular trabecula myocardium morphogenesis] GO:0003223[ventricular compact myocardium morphogenesis] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0004675[transmembrane receptor protein serine/threonine kinase activity] GO:0005024[transforming growth factor beta receptor activity] GO:0005025[transforming growth factor beta receptor activity, type I] GO:0005102[signaling receptor binding] GO:0005114[type II transforming growth factor beta receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005768[endosome] GO:0005886[plasma membrane] GO:0005923[bicellular tight junction] GO:0006355[regulation of DNA-templated transcription] GO:0006468[protein phosphorylation] GO:0006915[apoptotic process] GO:0007165[signal transduction] GO:0007178[transmembrane receptor protein serine/threonine kinase signaling pathway] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007399[nervous system development] GO:0007507[heart development] GO:0008284[positive regulation of cell population proliferation] GO:0008354[germ cell migration] GO:0008584[male gonad development] GO:0009791[post-embryonic development] GO:0009952[anterior/posterior pattern specification] GO:0009986[cell surface] GO:0010468[regulation of gene expression] GO:0010628[positive regulation of gene expression] GO:0010717[regulation of epithelial to mesenchymal transition] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016361[activin receptor activity, type I] GO:0016740[transferase activity] GO:0018105[peptidyl-serine phosphorylation] GO:0018107[peptidyl-threonine phosphorylation] GO:0019838[growth factor binding] GO:0030154[cell differentiation] GO:0030199[collagen fibril organization] GO:0030307[positive regulation of cell growth] GO:0030335[positive regulation of cell migration] GO:0031396[regulation of protein ubiquitination] GO:0032331[negative regulation of chondrocyte differentiation] GO:0032924[activin receptor signaling pathway] GO:0035556[intracellular signal transduction] GO:0042060[wound healing] GO:0042118[endothelial cell activation] GO:0043062[extracellular structure organization] GO:0043065[positive regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0043167[ion binding] GO:0043235[receptor complex] GO:0043393[regulation of protein binding] GO:0043410[positive regulation of MAPK cascade] GO:0043542[endothelial cell migration] GO:0045121[membrane raft] GO:0045893[positive regulation of DNA-templated transcription] GO:0046332[SMAD binding] GO:0046847[filopodium assembly] GO:0046872[metal ion binding] GO:0048179[activin receptor complex] GO:0048185[activin binding] GO:0048538[thymus development] GO:0048663[neuron fate commitment] GO:0048701[embryonic cranial skeleton morphogenesis] GO:0048705[skeletal system morphogenesis] GO:0048762[mesenchymal cell differentiation] GO:0048844[artery morphogenesis] GO:0048870[cell motility] GO:0050431[transforming growth factor beta binding] GO:0051171[regulation of nitrogen compound metabolic process] GO:0051491[positive regulation of filopodium assembly] GO:0051496[positive regulation of stress fiber assembly] GO:0051726[regulation of cell cycle] GO:0051897[positive regulation of protein kinase B signaling] GO:0060017[parathyroid gland development] GO:0060021[roof of mouth development] GO:0060037[pharyngeal system development] GO:0060043[regulation of cardiac muscle cell proliferation] GO:0060255[regulation of macromolecule metabolic process] GO:0060317[cardiac epithelial to mesenchymal transition] GO:0060389[pathway-restricted SMAD protein phosphorylation] GO:0060391[positive regulation of SMAD protein signal transduction] GO:0060412[ventricular septum morphogenesis] GO:0060978[angiogenesis involved in coronary vascular morphogenesis] GO:0060982[coronary artery morphogenesis] GO:0070021[transforming growth factor beta ligand-receptor complex] GO:0070161[anchoring junction] GO:0070411[I-SMAD binding] GO:0070723[response to cholesterol] GO:0071363[cellular response to growth factor stimulus] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0080090[regulation of primary metabolic process] GO:0098802[plasma membrane signaling receptor complex] GO:1905007[positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation] GO:1905075[positive regulation of tight junction disassembly] GO:1905223[epicardium morphogenesis] GO:2001235[positive regulation of apoptotic signaling pathway] GO:2001237[negative regulation of extrinsic apoptotic signaling pathway]
F8VXZ5 [Direct mapping] Receptor protein serine/threonine kinase
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Vascular diseases Congenital malformations Congenital malformations of the circulatory system Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0004675[transmembrane receptor protein serine/threonine kinase activity] GO:0005524[ATP binding] GO:0006468[protein phosphorylation] GO:0007178[transmembrane receptor protein serine/threonine kinase signaling pathway] GO:0016020[membrane] GO:0043167[ion binding] GO:0051171[regulation of nitrogen compound metabolic process] GO:0051239[regulation of multicellular organismal process] GO:0060255[regulation of macromolecule metabolic process] GO:0080090[regulation of primary metabolic process] GO:0098802[plasma membrane signaling receptor complex]