| Tag | Content |
|---|---|
| Uniprot ID | P17125 |
| Entrez ID | |
| Genbank protein ID | AAA40422.1 |
| Genbank nucleotide ID | |
| Ensembl protein ID | |
| Ensembl nucleotide ID | |
| Gene name | Transforming growth factor beta-3 proprotein |
| Gene symbol | Tgfb3 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E11.5, E12.5, E14.0, E13.5, E14.5, E15.5 |
| Data sources | Manually collected |
| Reference | 7493022; 7493021; 25523394; 18343643; 17967447; 22223248; |
| Functional description | Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively. |
| Sequence | MHLQRALVVL ALLNLATISL SLSTCTTLDF GHIKKKRVEA IRGQILSKLR LTSPPEPSVM 60 THVPYQVLAL YNSTRELLEE MHGEREEGCT QETSESEYYA KEIHKFDMIQ GLAEHNELAV 120 CPKGITSKVF RFNVSSVEKN GTNLFRAEFR VLRVPNPSSK RTEQRIELFQ ILRPDEHIAK 180 QRYIGGKNLP TRGTAEWLSF DVTDTVREWL LRRESNLGLE ISIHCPCHTF QPNGDILENV 240 HEVMEIKFKG VDNEDDHGRG DLGRLKKQKD HHNPHLILMM IPPHRLDSPG QGSQRKKRAL 300 DTNYCFRNLE ENCCVRPLYI DFRQDLGWKW VHEPKGYYAN FCSGPCPYLR SADTTHSTVL 360 GLYNTLNPEA SASPCCVPQD LEPLTILYYV GRTPKVEQLS NMVVKSCKCS |
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 | TGFB3 | 538957 | A6QP91 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | TGFB3 | 490796 | F1PR85 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | TGFB3 | 102189962 | A0A452DMZ7 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | TGFB3 | 7043 | P10600 | CPO,CL/P | Homo sapiens | Publication | More>> | |
| 1:1 ortholog | Tgfb3 | P17125 | CPO | E11.5, E12.5, E14.0, E13.5, E14.5, E15.5 | Mus musculus | Publication | More>> | |
| 1:1 ortholog | TGFB3 | 453054 | H2Q8N5 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | TGFB3 | 397400 | K7GSJ9 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | Tgfb3 | 25717 | Q07258 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | tgfb3 | 369195 | Q66I23 | Danio rerio | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| TGFB3 | IVS5+104A>G | PCR-RFLP | 23023602 |
| TGFB3 | rs3917201G>A | PCR-RFLP; TDT | 20170386 |
| TGFB3 | rs2300607A>T; IVS1+5321 | PCR-RFLP; TDT | 18480962 |
| TGFB3 | IVS5+104A>G | Genotyping | 14659070 |
| TGFB3 | g.-1083_-1086AGAGGG repeat (5'UTR.1) | Genotyping; sequencing; TDT | 23660777 |
| TGFB3 | g.-24 int4/ex5 T>C (X5.1); | Genotyping; sequencing; TDT | 23660777 |
| TGFB3 | rs2205181T>C | Genotyping | 20572854 |
| TGFB3 | rs8011635C>T | Genotyping | 20572854 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005114 | type II transforming growth factor beta receptor binding | ISS |
| GO:0005114 | type II transforming growth factor beta receptor binding | ISO |
| GO:0005114 | type II transforming growth factor beta receptor binding | IBA |
| GO:0005125 | cytokine activity | IBA |
| GO:0005515 | protein binding | IPI |
| GO:0008083 | growth factor activity | IEA |
| GO:0034713 | type I transforming growth factor beta receptor binding | ISS |
| GO:0034713 | type I transforming growth factor beta receptor binding | ISO |
| GO:0034714 | type III transforming growth factor beta receptor binding | ISS |
| GO:0034714 | type III transforming growth factor beta receptor binding | ISO |
| GO:0034714 | type III transforming growth factor beta receptor binding | IBA |
| GO:0042802 | identical protein binding | ISS |
| GO:0042802 | identical protein binding | ISO |
| GO:0044877 | protein-containing complex binding | ISO |
| GO:0050431 | transforming growth factor beta binding | ISS |
| GO:0050431 | transforming growth factor beta binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000187 | activation of MAPK activity | ISO |
| GO:0001666 | response to hypoxia | ISS |
| GO:0001666 | response to hypoxia | ISO |
| GO:0001701 | in utero embryonic development | IMP |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | ISS |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | ISO |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | IBA |
| GO:0007435 | salivary gland morphogenesis | ISS |
| GO:0008284 | positive regulation of cell population proliferation | ISS |
| GO:0008284 | positive regulation of cell population proliferation | ISO |
| GO:0008285 | negative regulation of cell population proliferation | ISS |
| GO:0008285 | negative regulation of cell population proliferation | ISO |
| GO:0008285 | negative regulation of cell population proliferation | IDA |
| GO:0009887 | animal organ morphogenesis | IMP |
| GO:0010628 | positive regulation of gene expression | IDA |
| GO:0010718 | positive regulation of epithelial to mesenchymal transition | ISS |
| GO:0010718 | positive regulation of epithelial to mesenchymal transition | ISO |
| GO:0010718 | positive regulation of epithelial to mesenchymal transition | IMP |
| GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | IMP |
| GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | IBA |
| GO:0010936 | negative regulation of macrophage cytokine production | ISS |
| GO:0010936 | negative regulation of macrophage cytokine production | ISO |
| GO:0030501 | positive regulation of bone mineralization | ISS |
| GO:0030509 | BMP signaling pathway | IBA |
| GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | ISO |
| GO:0030879 | mammary gland development | IDA |
| GO:0032570 | response to progesterone | ISS |
| GO:0032570 | response to progesterone | ISO |
| GO:0032967 | positive regulation of collagen biosynthetic process | ISS |
| GO:0032967 | positive regulation of collagen biosynthetic process | ISO |
| GO:0042127 | regulation of cell population proliferation | IBA |
| GO:0043065 | positive regulation of apoptotic process | ISO |
| GO:0043065 | positive regulation of apoptotic process | IMP |
| GO:0043524 | negative regulation of neuron apoptotic process | IMP |
| GO:0043627 | response to estrogen | ISO |
| GO:0043932 | ossification involved in bone remodeling | ISS |
| GO:0045216 | cell-cell junction organization | ISS |
| GO:0045216 | cell-cell junction organization | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISS |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | IMP |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0048286 | lung alveolus development | IMP |
| GO:0048702 | embryonic neurocranium morphogenesis | ISO |
| GO:0050714 | positive regulation of protein secretion | ISO |
| GO:0051491 | positive regulation of filopodium assembly | IMP |
| GO:0051496 | positive regulation of stress fiber assembly | ISO |
| GO:0051781 | positive regulation of cell division | IEA |
| GO:0060325 | face morphogenesis | ISS |
| GO:0060325 | face morphogenesis | ISO |
| GO:0060325 | face morphogenesis | IEP |
| GO:0060391 | positive regulation of SMAD protein signal transduction | IMP |
| GO:0060395 | SMAD protein signal transduction | IBA |
| GO:0062009 | secondary palate development | IMP |
| GO:0070483 | detection of hypoxia | ISS |
| GO:0070483 | detection of hypoxia | ISO |
| GO:0071363 | cellular response to growth factor stimulus | IDA |
| GO:1904706 | negative regulation of vascular smooth muscle cell proliferation | ISO |
| GO:1905075 | positive regulation of tight junction disassembly | ISO |
| GO:1905005 | regulation of epithelial to mesenchymal transition involved in endocardial cushion formation | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005615 | extracellular space | ISO |
| GO:0005615 | extracellular space | IBA |
| GO:0005634 | nucleus | ISO |
| GO:0005737 | cytoplasm | ISO |
| GO:0009986 | cell surface | ISO |
| GO:0030141 | secretory granule | ISO |
| GO:0030315 | T-tubule | ISO |
| GO:0031012 | extracellular matrix | IDA |
| GO:0043025 | neuronal cell body | ISO |
| GO:0043231 | intracellular membrane-bounded organelle | ISO |
| GO:0062023 | collagen-containing extracellular matrix | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|