| Tag | Content |
|---|---|
| Uniprot ID | Q60707; Q5SSP7; |
| Entrez ID | 21385 |
| Genbank protein ID | AAC52697.1; EDL15775.1; AAF90050.1; |
| Genbank nucleotide ID | NM_009324.2 |
| Ensembl protein ID | ENSMUSP00000000095 |
| Ensembl nucleotide ID | ENSMUSG00000000093 |
| Gene name | T-box transcription factor TBX2 |
| Gene symbol | Tbx2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 19769959 |
| Functional description | Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence. May be required for cardiac atrioventricular canal formation (By similarity). |
| Sequence | MREPALAASA MAYHPFHAPR PADFPMSAFL AAAQPSFFPA LALPPGALGK PLPDPGLAGA 60 AAAAAAAAAA AEAGLHVSAL GPHPPAAHLR SLKSLEPEDE VEDDPKVTLE AKELWDQFHK 120 LGTEMVITKS GRRMFPPFKV RVSGLDKKAK YILLMDIVAA DDCRYKFHNS RWMVAGKADP 180 EMPKRMYIHP DSPATGEQWM AKPVAFHKLK LTNNISDKHG FTILNSMHKY QPRFHIVRAN 240 DILKLPYSTF RTYVFPETDF IAVTAYQNDK ITQLKIDNNP FAKGFRDTGN GRREKRKQLT 300 LPTLRLYEEH CKPERDGAES DASSCDPPPA REPPPSPSAA PSPLRLHRAR AEEKPGAADS 360 DPEPERTGEE RSAAPLGRSP SRDASPARLT EPERSRERRS PERCSKEPTE GGGDGPFSLR 420 SLEKERPEAR RKDEGRKDVG EGKEPSLAPL VVQTDSASPL GAGHLPGLAF SSHLHGQQFF 480 GPLGAGQPLF LHPGQFAMGP GAFSAMGMGH LLASVAGGSG SSGGAGPGTA AGLDAGGLGP 540 AASAASTAAP FPFHLSQHML ASQGIPMPTF GGLFPYPYTY MAAAAAAASA LPATSAAAAA 600 AAAAGSLSRS PFLGSARPRL RFSPYQIPVT IPPSTSLLTT GLAAEGSKGG NSREPSPLPE 660 LALRKVGGPS RGALSPSGSA KEAASELQSI QRLVSGLESQ RALSPGRESP K 711 |
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 | TBX2 | 535982 | E1BLY0 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | TBX2 | J9NV98 | Canis lupus familiaris | Prediction | More>> | |||
| 1:1 ortholog | TBX2 | A0A452EL03 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | TBX2 | 6909 | Q13207 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Tbx2 | 21385 | Q60707 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | TBX2 | 454800 | H2QDL3 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | TBX2 | 100622658 | F8SIP4 | Sus scrofa | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA |
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | ISO |
| GO:0001102 | RNA polymerase II activating transcription factor binding | IBA |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | ISO |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IBA |
| GO:0003677 | DNA binding | IDA |
| GO:0003700 | DNA-binding transcription factor activity | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0043565 | sequence-specific 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 | IDA |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IGI |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA |
| GO:0001708 | cell fate specification | IBA |
| GO:0001947 | heart looping | ISS |
| GO:0001947 | heart looping | IBA |
| GO:0003007 | heart morphogenesis | IMP |
| GO:0003148 | outflow tract septum morphogenesis | IMP |
| GO:0003151 | outflow tract morphogenesis | IMP |
| GO:0003203 | endocardial cushion morphogenesis | IMP |
| GO:0003205 | cardiac chamber development | IBA |
| GO:0003256 | regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation | IDA |
| GO:0007219 | Notch signaling pathway | IDA |
| GO:0007417 | central nervous system development | IBA |
| GO:0007521 | muscle cell fate determination | IMP |
| GO:0007569 | cell aging | ISO |
| GO:0007569 | cell aging | IDA |
| GO:0008016 | regulation of heart contraction | ISS |
| GO:0008284 | positive regulation of cell population proliferation | ISO |
| GO:0008284 | positive regulation of cell population proliferation | IBA |
| GO:0035050 | embryonic heart tube development | ISS |
| GO:0035909 | aorta morphogenesis | IMP |
| GO:0036302 | atrioventricular canal development | IMP |
| GO:0042733 | embryonic digit morphogenesis | IMP |
| GO:0045892 | negative regulation of transcription, DNA-templated | ISO |
| GO:0045892 | negative regulation of transcription, DNA-templated | IDA |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA |
| GO:0048596 | embryonic camera-type eye morphogenesis | IMP |
| GO:0048738 | cardiac muscle tissue development | IMP |
| GO:0060021 | roof of mouth development | IGI |
| GO:0060021 | roof of mouth development | IMP |
| GO:0060045 | positive regulation of cardiac muscle cell proliferation | IMP |
| GO:0060465 | pharynx development | IMP |
| GO:0060560 | developmental growth involved in morphogenesis | IMP |
| GO:0060596 | mammary placode formation | IGI |
| GO:0090398 | cellular senescence | ISS |
| GO:0090398 | cellular senescence | ISO |
| GO:1901208 | negative regulation of heart looping | IMP |
| GO:1901211 | negative regulation of cardiac chamber formation | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISS |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| GO:0005667 | transcription factor complex | IDA |
| Reactome ID | Reactome Term | Evidence |
|---|