| Tag | Content |
|---|---|
| Uniprot ID | Q8K402 |
| Entrez ID | 245572 |
| Genbank protein ID | AAM94354.1; AAM64167.1; |
| Genbank nucleotide ID | NM_145224.3; NM_181319.5; NM_001290747.1; XM_017318491.1; |
| Ensembl protein ID | ENSMUSP00000112544 |
| Ensembl nucleotide ID | ENSMUSG00000031241 |
| Gene name | T-box transcription factor TBX22 |
| Gene symbol | Tbx22 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | E11.5, E12.5, E14.0, E13.5, E14.5 |
| Data sources | Manually collected |
| Reference | 19648291 |
| Functional description | Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis. |
| Sequence | MALSSRAHAF SVEALMGRPS KRKAQDPREE MQPELQEEQF VEEGEEILRS PSRDSQQPEK 60 RLKAESSKTV FSCSDESNSQ ESLQEESVIQ VELQGSDLWK RFHDIGTEMI ITKAGRRMFP 120 SVRIKVKGMD PVKQYYVILD VVPVDSKRYR YVYHSSQWMV AGNTDHSCIT PRFYVHPDSP 180 CSGENWMRQI ISFDRVKLTN NEMDDKGHII LQSMHKYNPR VHVVEQDSRI DLSLIESFPT 240 EGVKTFSFKE TEFTTVTAYQ NQQITKLKID RNPFAKGFRD PGRNRGVLDG FLETYPWMPS 300 FSMDFKTFVT DTQSGSSGSS PVTSSGGAPS PLNSLLSPSC SPPMVYIPPS SFGMTYPDAY 360 LHSVNIPFCY RICPTNNWRS QPFVLPTPER LPSFIIPQTL PPLMMEVPVV SSRGIINPNS 420 GLHEDCNGQC LQASHSANQM LYGLQNPGNI FHPNAIAQEA ISYPFHPPNG CYRYTISMPP 480 RLENVASHLS ENGTSQISFT EGSCDHSHWY PAINHYL 517 |
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 | TBX22 | 100299988 | G3N243 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | TBX22 | A0A452EVR5 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | TBX22 | 50945 | Q9Y458 | CPO,CL/P | Homo sapiens | Publication | More>> | |
| 1:1 ortholog | Tbx22 | 245572 | Q8K402 | CPO | E11.5, E12.5, E14.0, E13.5, E14.5 | Mus musculus | Publication | More>> |
| 1:1 ortholog | TBX22 | 473683 | A0A2J8KJZ2 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | A0A4X1W2E6 | Sus scrofa | Prediction | More>> | ||||
| 1:1 ortholog | TBX22 | 100341565 | G1T5X7 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Tbx22 | 302369 | D3ZMK6 | Rattus norvegicus | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| TBX22 | c.376C>T; p.R126W | Genotyping | 21248356 |
| TBX22 | c.452G>T; p.R151L | Genotyping | 21248356 |
| TBX22 | rs7055763G>A | Genotyping | 25918826 |
| TBX22 | rs41307258T>A | Genotyping | 25918826 |
| TBX22 | IVS6-1G>C (heterozygous or hemizygous) | PCR and sequencing | 29932961 |
| TBX22 | c.874G>A; p.D292N (hemizygous) | PCR and sequencing | 29932961 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | ISO |
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA |
| GO:0001102 | RNA polymerase II activating transcription factor binding | IBA |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IBA |
| GO:0003677 | DNA binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISO |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA |
| GO:0001708 | cell fate specification | IBA |
| GO:0045892 | negative regulation of transcription, DNA-templated | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IBA |
| Reactome ID | Reactome Term | Evidence |
|---|
| Pfam ID | Pfam Term |
|---|---|
| PF00907 | T-box |