| Tag | Content |
|---|---|
| Uniprot ID | Q62432; Q6GU18; Q6VP00; Q9D8P6; |
| Entrez ID | 17126 |
| Genbank protein ID | AAR00933.1; BAB25282.1; AAH89184.1; AAH21342.1; AAB03612.1; AAB62269.1; |
| Genbank nucleotide ID | NM_001252481.1; NM_010754.5; NM_001311070.1; XM_017317842.1; XM_006525699.2; |
| Ensembl protein ID | ENSMUSP00000130115; ENSMUSP00000089439; ENSMUSP00000025453; |
| Ensembl nucleotide ID | ENSMUSG00000024563 |
| Gene name | Mothers against decapentaplegic homolog 2 |
| Gene symbol | Smad2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | E12.0, E12.5, E13.0, E13.5, E14.0, E15.0, E14.5 |
| Data sources | Homology search |
| Reference | |
| Functional description | Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. May act as a tumor suppressor in colorectal carcinoma. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator (By similarity). |
| Sequence | MSSILPFTPP VVKRLLGWKK SAGGSGGAGG GEQNGQEEKW CEKAVKSLVK KLKKTGRLDE 60 LEKAITTQNC NTKCVTIPST CSEIWGLSTA NTVDQWDTTG LYSFSEQTRS LDGRLQVSHR 120 KGLPHVIYCR LWRWPDLHSH HELKAIENCE YAFNLKKDEV CVNPYHYQRV ETPVLPPVLV 180 PRHTEILTEL PPLDDYTHSI PENTNFPAGI EPQSNYIPET PPPGYISEDG ETSDQQLNQS 240 MDTGSPAELS PTTLSPVNHS LDLQPVTYSE PAFWCSIAYY ELNQRVGETF HASQPSLTVD 300 GFTDPSNSER FCLGLLSNVN RNATVEMTRR HIGRGVRLYY IGGEVFAECL SDSAIFVQSP 360 NCNQRYGWHP ATVCKIPPGC NLKIFNNQEF AALLAQSVNQ GFEAVYQLTR MCTIRMSFVK 420 GWGAEYRRQT VTSTPCWIEL HLNGPLQWLD KVLTQMGSPS VRCSSMS 467 |
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 | SMAD2 | E1BE92 | Bos taurus | Prediction | More>> | |||
| 1:1 ortholog | SMAD2 | 480144 | A0A5F4DFT1 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | SMAD2 | 102188455 | A0A452FCX6 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | SMAD2 | 4087 | Q15796 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Smad2 | 17126 | Q62432 | E12.0, E12.5, E13.0, E13.5, E14.0, E15.0, E14.5 | Mus musculus | Prediction | More>> | |
| 1:1 ortholog | SMAD2 | 455407 | H2QEH9 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | SMAD2 | 100155304 | A0A287AE86 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | SMAD2 | 100359137 | G1T109 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Smad2 | 29357 | O70436 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | smad2 | F1Q5P5 | Danio rerio | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| SMAD2 | rs728683 | Genome wide linkage analysis | 17564975 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | ISO |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISO |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IPI |
| GO:0003682 | chromatin binding | IDA |
| GO:0003690 | double-stranded DNA binding | IDA |
| GO:0003700 | DNA-binding transcription factor activity | ISO |
| GO:0005160 | transforming growth factor beta receptor binding | ISO |
| GO:0005515 | protein binding | IPI |
| GO:0008134 | transcription factor binding | ISO |
| GO:0008134 | transcription factor binding | IPI |
| GO:0019902 | phosphatase binding | ISO |
| GO:0030618 | transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity | ISO |
| GO:0031625 | ubiquitin protein ligase binding | ISO |
| GO:0033613 | activating transcription factor binding | ISO |
| GO:0034713 | type I transforming growth factor beta receptor binding | ISO |
| GO:0046332 | SMAD binding | ISO |
| GO:0046332 | SMAD binding | IPI |
| GO:0046872 | metal ion binding | IEA |
| GO:0048156 | tau protein binding | IDA |
| GO:0070410 | co-SMAD binding | ISO |
| GO:0070411 | I-SMAD binding | ISO |
| GO:0070412 | R-SMAD binding | ISO |
| GO:0070878 | primary miRNA binding | ISO |
| GO:0097718 | disordered domain specific binding | ISO |
| GO:0003677 | DNA binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001657 | ureteric bud development | IEP |
| GO:0001701 | in utero embryonic development | IGI |
| GO:0001701 | in utero embryonic development | IMP |
| GO:0001706 | endoderm formation | IMP |
| GO:0001707 | mesoderm formation | IMP |
| GO:0006468 | protein phosphorylation | IDA |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | ISO |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | IDA |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | IGI |
| GO:0007182 | common-partner SMAD protein phosphorylation | ISO |
| GO:0007183 | SMAD protein complex assembly | ISO |
| GO:0007352 | zygotic specification of dorsal/ventral axis | ISO |
| GO:0007369 | gastrulation | IGI |
| GO:0007389 | pattern specification process | IGI |
| GO:0007492 | endoderm development | IGI |
| GO:0007507 | heart development | IGI |
| GO:0008285 | negative regulation of cell population proliferation | ISO |
| GO:0009749 | response to glucose | IGI |
| GO:0009791 | post-embryonic development | IGI |
| GO:0009880 | embryonic pattern specification | IGI |
| GO:0009952 | anterior/posterior pattern specification | IMP |
| GO:0010628 | positive regulation of gene expression | IMP |
| GO:0010629 | negative regulation of gene expression | IMP |
| GO:0010718 | positive regulation of epithelial to mesenchymal transition | IMP |
| GO:0017015 | regulation of transforming growth factor beta receptor signaling pathway | ISO |
| GO:0023019 | signal transduction involved in regulation of gene expression | ISO |
| GO:0030073 | insulin secretion | IGI |
| GO:0030324 | lung development | IGI |
| GO:0030325 | adrenal gland development | ISO |
| GO:0030513 | positive regulation of BMP signaling pathway | ISO |
| GO:0031016 | pancreas development | IGI |
| GO:0032924 | activin receptor signaling pathway | ISO |
| GO:0035265 | organ growth | IGI |
| GO:0035556 | intracellular signal transduction | IDA |
| GO:0038092 | nodal signaling pathway | ISO |
| GO:0042060 | wound healing | IEA |
| GO:0045165 | cell fate commitment | IMP |
| GO:0045892 | negative regulation of transcription, DNA-templated | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | IMP |
| GO:0045893 | positive regulation of transcription, DNA-templated | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IGI |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0048340 | paraxial mesoderm morphogenesis | IMP |
| GO:0048589 | developmental growth | IGI |
| GO:0048617 | embryonic foregut morphogenesis | IGI |
| GO:0048701 | embryonic cranial skeleton morphogenesis | IGI |
| GO:0051098 | regulation of binding | IDA |
| GO:0060039 | pericardium development | IGI |
| GO:0060395 | SMAD protein signal transduction | IGI |
| GO:0062009 | secondary palate development | IMP |
| GO:0070723 | response to cholesterol | ISO |
| GO:1900224 | positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000790 | nuclear chromatin | ISO |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005654 | nucleoplasm | TAS |
| GO:0005667 | transcription factor complex | ISO |
| GO:0005667 | transcription factor complex | IDA |
| GO:0005737 | cytoplasm | ISO |
| GO:0005737 | cytoplasm | IDA |
| GO:0032444 | activin responsive factor complex | ISO |
| GO:0032991 | protein-containing complex | ISO |
| GO:0071141 | SMAD protein complex | ISO |
| GO:0071144 | heteromeric SMAD protein complex | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1181150 | Signaling by NODAL | IEA |
| R-MMU-1266738 | Developmental Biology | IEA |
| R-MMU-1502540 | Signaling by Activin | IEA |
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-170834 | Signaling by TGF-beta Receptor Complex | IEA |
| R-MMU-212436 | Generic Transcription Pathway | IEA |
| R-MMU-2173788 | Downregulation of TGF-beta receptor signaling | IEA |
| R-MMU-2173789 | TGF-beta receptor signaling activates SMADs | IEA |
| R-MMU-2173793 | Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer | IEA |
| R-MMU-2173795 | Downregulation of SMAD2/3:SMAD4 transcriptional activity | IEA |
| R-MMU-2173796 | SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription | IEA |
| R-MMU-392499 | Metabolism of proteins | IEA |
| R-MMU-5688426 | Deubiquitination | IEA |
| R-MMU-5689880 | Ub-specific processing proteases | IEA |
| R-MMU-597592 | Post-translational protein modification | IEA |
| R-MMU-73857 | RNA Polymerase II Transcription | IEA |
| R-MMU-74160 | Gene expression (Transcription) | IEA |
| R-MMU-9006936 | Signaling by TGF-beta family members | IEA |
| R-MMU-9614085 | FOXO-mediated transcription | IEA |
| R-MMU-9617828 | FOXO-mediated transcription of cell cycle genes | IEA |