| Tag | Content |
|---|---|
| Uniprot ID | Q62312; Q63947; |
| Entrez ID | 21813 |
| Genbank protein ID | BAA06840.1; AAB30100.2; |
| Genbank nucleotide ID | NM_009371.3 |
| Ensembl protein ID | ENSMUSP00000062333; ENSMUSP00000035014; |
| Ensembl nucleotide ID | ENSMUSG00000032440 |
| Gene name | TGF-beta receptor type-2 |
| Gene symbol | Tgfbr2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E14.0, E15.5 |
| Data sources | Manually collected |
| Reference | 24496627; 16780827; 12975342; 15741317; 8873772(KO); |
| Functional description | Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, 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 TGFRB1 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 (By similarity). |
| Sequence | MGRGLLRGLW PLHIVLWTRI ASTIPPHVPK SDVEMEAQKD ASIHLSCNRT IHPLKHFNSD 60 VMASDNGGAV KLPQLCKFCD VRLSTCDNQK SCMSNCSITA ICEKPHEVCV AVWRKNDKNI 120 TLETVCHDPK LTYHGFTLED AASPKCVMKE KKRAGETFFM CACNMEECND YIIFSEEYTT 180 SSPDLLLVII QVTGVSLLPP LGIAIAVIII FYCYRVHRQQ KLSPSWESSK PRKLMDFSDN 240 CAIILEDDRS DISSTCANNI NHNTELLPIE LDTLVGKGRF AEVYKAKLKQ NTSEQFETVA 300 VKIFPYEEYS SWKTEKDIFS DINLKHENIL QFLTAEERKT ELGKQYWLIT AFHAKGNLQE 360 YLTRHVISWE DLRKLGSSLA RGIAHLHSDH TPCGRPKMPI VHRDLKSSNI LVKNDLTCCL 420 CDFGLSLRLD PTLSVDDLAN SGQVGTARYM APEVLESRMN LENVESFKQT DVYSMALVLW 480 EMTSRCNAVG EVKDYEPPFG SKVREHPCVE SMKDSVLRDR GRPEIPSFWL NHQGIQIVCE 540 TLTECWDHDP EARLTAQCVA ERFSELEHPE RLSGRSCSQE KIPEDGSLNT TK 592 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | TGFBR2 | 477039 | A0A5F4D8G5 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | TGFBR2 | A0A452E8G0 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | TGFBR2 | 7048 | P37173 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Tgfbr2 | 21813 | Q62312 | CPO | E14.0, E15.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | TGFBR2 | 460243 | H2QZF5 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | TGFBR2_tv2 | A0A5K1VMN1 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | TGFBR2 | G1TAL4 | Oryctolagus cuniculus | Prediction | More>> | |||
| 1:1 ortholog | Tgfbr2 | 81810 | P38438 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | tgfbr2b | F1QKF4 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004674 | protein serine/threonine kinase activity | IBA |
| GO:0004675 | transmembrane receptor protein serine/threonine kinase activity | ISO |
| GO:0005024 | transforming growth factor beta-activated receptor activity | ISO |
| GO:0005024 | transforming growth factor beta-activated receptor activity | IGI |
| GO:0005024 | transforming growth factor beta-activated receptor activity | IBA |
| GO:0005026 | transforming growth factor beta receptor activity, type II | ISO |
| GO:0005515 | protein binding | IPI |
| GO:0005524 | ATP binding | IEA |
| GO:0005539 | glycosaminoglycan binding | ISO |
| GO:0017002 | activin-activated receptor activity | IBA |
| GO:0031435 | mitogen-activated protein kinase kinase kinase binding | ISO |
| GO:0034713 | type I transforming growth factor beta receptor binding | ISO |
| GO:0034713 | type I transforming growth factor beta receptor binding | IBA |
| GO:0034714 | type III transforming growth factor beta receptor binding | ISO |
| GO:0046332 | SMAD binding | ISO |
| GO:0046332 | SMAD binding | IDA |
| GO:0046332 | SMAD binding | IBA |
| GO:0046872 | metal ion binding | IEA |
| GO:0048185 | activin binding | IBA |
| GO:0050431 | transforming growth factor beta binding | ISO |
| GO:0050431 | transforming growth factor beta binding | IPI |
| GO:0050431 | transforming growth factor beta binding | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001569 | branching involved in blood vessel morphogenesis | IMP |
| GO:0001570 | vasculogenesis | IMP |
| GO:0001666 | response to hypoxia | IEA |
| GO:0001701 | in utero embryonic development | IMP |
| GO:0001947 | heart looping | IMP |
| GO:0002053 | positive regulation of mesenchymal cell proliferation | IMP |
| GO:0002088 | lens development in camera-type eye | IMP |
| GO:0002651 | positive regulation of tolerance induction to self antigen | IMP |
| GO:0002663 | positive regulation of B cell tolerance induction | IMP |
| GO:0002666 | positive regulation of T cell tolerance induction | IMP |
| GO:0003148 | outflow tract septum morphogenesis | IMP |
| GO:0003149 | membranous septum morphogenesis | IMP |
| GO:0003151 | outflow tract morphogenesis | IMP |
| GO:0003181 | atrioventricular valve morphogenesis | IMP |
| GO:0003186 | tricuspid valve morphogenesis | IMP |
| GO:0003214 | cardiac left ventricle morphogenesis | IMP |
| GO:0003274 | endocardial cushion fusion | IMP |
| GO:0003417 | growth plate cartilage development | IGI |
| GO:0003430 | growth plate cartilage chondrocyte growth | IMP |
| GO:0006468 | protein phosphorylation | ISO |
| GO:0006468 | protein phosphorylation | TAS |
| GO:0006468 | protein phosphorylation | IBA |
| GO:0006898 | receptor-mediated endocytosis | ISO |
| GO:0006915 | apoptotic process | ISO |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | ISO |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | IMP |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | IBA |
| GO:0007182 | common-partner SMAD protein phosphorylation | ISO |
| GO:0007219 | Notch signaling pathway | IDA |
| GO:0007224 | smoothened signaling pathway | IMP |
| GO:0007369 | gastrulation | IMP |
| GO:0007420 | brain development | IMP |
| GO:0007507 | heart development | IMP |
| GO:0007507 | heart development | IBA |
| GO:0007566 | embryo implantation | IEA |
| GO:0007568 | aging | IEA |
| GO:0007584 | response to nutrient | IEA |
| GO:0008285 | negative regulation of cell population proliferation | ISO |
| GO:0009612 | response to mechanical stimulus | IEA |
| GO:0009749 | response to glucose | IEA |
| GO:0009887 | animal organ morphogenesis | ISO |
| GO:0010468 | regulation of gene expression | IMP |
| GO:0010634 | positive regulation of epithelial cell migration | IMP |
| GO:0010718 | positive regulation of epithelial to mesenchymal transition | ISO |
| GO:0018105 | peptidyl-serine phosphorylation | ISO |
| GO:0018107 | peptidyl-threonine phosphorylation | ISO |
| GO:0030324 | lung development | IMP |
| GO:0031100 | animal organ regeneration | IEA |
| GO:0032147 | activation of protein kinase activity | IDA |
| GO:0032924 | activin receptor signaling pathway | IEA |
| GO:0035162 | embryonic hemopoiesis | IMP |
| GO:0042060 | wound healing | IEA |
| GO:0042127 | regulation of cell population proliferation | IMP |
| GO:0042493 | response to drug | ISO |
| GO:0043011 | myeloid dendritic cell differentiation | IMP |
| GO:0043415 | positive regulation of skeletal muscle tissue regeneration | IEA |
| GO:0043627 | response to estrogen | IEA |
| GO:0045766 | positive regulation of angiogenesis | IGI |
| GO:0048545 | response to steroid hormone | IEA |
| GO:0048565 | digestive tract development | IEA |
| GO:0048661 | positive regulation of smooth muscle cell proliferation | ISO |
| GO:0048701 | embryonic cranial skeleton morphogenesis | IMP |
| GO:0051138 | positive regulation of NK T cell differentiation | IMP |
| GO:0051216 | cartilage development | IMP |
| GO:0060044 | negative regulation of cardiac muscle cell proliferation | ISO |
| GO:0060389 | pathway-restricted SMAD protein phosphorylation | ISO |
| GO:0060412 | ventricular septum morphogenesis | IMP |
| GO:0060425 | lung morphogenesis | IMP |
| GO:0060433 | bronchus development | IMP |
| GO:0060434 | bronchus morphogenesis | IMP |
| GO:0060439 | trachea morphogenesis | IMP |
| GO:0060440 | trachea formation | IMP |
| GO:0060443 | mammary gland morphogenesis | IMP |
| GO:0060463 | lung lobe morphogenesis | IMP |
| GO:0062009 | secondary palate development | IMP |
| GO:0070723 | response to cholesterol | ISO |
| GO:0070723 | response to cholesterol | IDA |
| GO:0071363 | cellular response to growth factor stimulus | IBA |
| GO:1905007 | positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation | IMP |
| GO:1905317 | inferior endocardial cushion morphogenesis | IMP |
| GO:1990086 | lens fiber cell apoptotic process | IDA |
| GO:1990428 | miRNA transport | IMP |
| GO:2000379 | positive regulation of reactive oxygen species metabolic process | ISO |
| GO:2000563 | positive regulation of CD4-positive, alpha-beta T cell proliferation | ISO |
| GO:1905315 | cell proliferation involved in endocardial cushion morphogenesis | IMP |
| GO:1905316 | superior endocardial cushion morphogenesis | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005737 | cytoplasm | ISO |
| GO:0005829 | cytosol | ISO |
| GO:0005886 | plasma membrane | ISS |
| GO:0005886 | plasma membrane | ISO |
| GO:0005886 | plasma membrane | IBA |
| GO:0005887 | integral component of plasma membrane | ISO |
| GO:0005901 | caveola | ISO |
| GO:0009897 | external side of plasma membrane | ISO |
| GO:0009897 | external side of plasma membrane | IDA |
| GO:0009986 | cell surface | ISO |
| GO:0016021 | integral component of membrane | ISO |
| GO:0043235 | receptor complex | ISO |
| GO:0043235 | receptor complex | IBA |
| GO:0045121 | membrane raft | ISS |
| GO:0045121 | membrane raft | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-170834 | Signaling by TGF-beta Receptor Complex | IEA |
| R-MMU-2173788 | Downregulation of TGF-beta receptor signaling | IEA |
| R-MMU-2173789 | TGF-beta receptor signaling activates SMADs | IEA |
| R-MMU-2173791 | TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) | IEA |
| R-MMU-9006936 | Signaling by TGF-beta family members | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0025 | Alternative splicing |
| KW-0053 | Apoptosis |
| KW-0067 | ATP-binding |
| KW-1003 | Cell membrane |
| KW-0221 | Differentiation |
| KW-1015 | Disulfide bond |
| KW-0325 | Glycoprotein |
| KW-0341 | Growth regulation |
| KW-0418 | Kinase |
| KW-0460 | Magnesium |
| KW-0464 | Manganese |
| KW-0472 | Membrane |
| KW-0479 | Metal-binding |
| KW-0547 | Nucleotide-binding |
| KW-0597 | Phosphoprotein |
| KW-0675 | Receptor |
| KW-1185 | Reference proteome |
| KW-0723 | Serine/threonine-protein kinase |
| KW-0732 | Signal |
| KW-0808 | Transferase |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |