| Tag | Content |
|---|---|
| Uniprot ID | P70324; E9QM97; Q60708; Q8BWH7; |
| Entrez ID | 21386 |
| Genbank protein ID | BAC34999.1; AAC53107.1; AAC52698.1; |
| Genbank nucleotide ID | XM_006530276.3; NM_011535.3; |
| Ensembl protein ID | ENSMUSP00000018748; ENSMUSP00000112519; ENSMUSP00000078657; |
| Ensembl nucleotide ID | ENSMUSG00000018604 |
| Gene name | T-box transcription factor TBX3 |
| Gene symbol | Tbx3 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 19769959 |
| Functional description | Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence (By similarity). |
| Sequence | MSLSMRDPVI PGTSMAYHPF LPHRAPDFAM SAVLGHQPPF FPALTLPPNG AAALSLPGAL 60 AKPIMDQLVG AAETGIPFSS LGPQAHLRPL KTMEPEEDVE DDPKVHLEAK ELWDQFHKRG 120 TEMVITKSGR RMFPPFKVRC SGLDKKAKYI LLMDIIAADD CRYKFHNSRW MVAGKADPEM 180 PKRMYIHPDS PATGEQWMSK VVTFHKLKLT NNISDKHGFT LAFPSDHATW QGNYSFGTQT 240 ILNSMHKYQP RFHIVRANDI LKLPYSTFRT YLFPETEFIA VTAYQNDKIT QLKIDNNPFA 300 KGFRDTGNGR REKRKQLTLQ SMRVFEERHK KETSDESSSE QAAFNCFAQA SSPAVSIVGT 360 SNLKDLCPSE AESDAEAESK EEHGPEACDA AKISTTTAEE PGRDKGSPAT RAQLFPAEPS 420 RARDTARLDK ASPDSRHSPA TISSSTRVPG ADERRSPGRE GPVATKVDEA RAIPAKDAFA 480 PLSVQTDATA HLAQGPLPGL GFAPGLAGQQ FFNGHPLFLH PGQFAMGGAF SSMAAGMGPL 540 LATVSGASTG VSGLESTAMA SAAAAQGLSG ASAATLPFHL QQHVLASQGL AMSPFGSLFP 600 YPYTYMAAAA AASTAAASSS VHRHPFLNLN SMRPRLRYSP YSIPVPVPDS SSLLATALPS 660 MASAAGPLDG KAAALAASPA SVAVDSGSEL NSRSSTLSSG SVSLSPKLCS EKEAATSELQ 720 SIQRLVSGLE AKPDRSCSGS P 741 |
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 | TBX3 | 102185207 | A0A452EBG9 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | TBX3 | 6926 | O15119 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Tbx3 | 21386 | P70324 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | TBX3 | 740308 | A0A2I3T7H8 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | Tbx3 | 353305 | Q7TST9 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | tbx3a | 556870 | B8JKS6 | Danio rerio | 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:0001085 | RNA polymerase II transcription factor binding | IPI |
| GO:0001102 | RNA polymerase II activating transcription factor binding | IBA |
| GO:0001102 | RNA polymerase II activating transcription factor binding | IPI |
| 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:0003700 | DNA-binding transcription factor activity | IDA |
| GO:0043565 | sequence-specific DNA binding | ISS |
| 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 | IBA |
| GO:0001501 | skeletal system development | ISS |
| GO:0001501 | skeletal system development | ISO |
| GO:0001568 | blood vessel development | IMP |
| GO:0001701 | in utero embryonic development | IMP |
| GO:0001708 | cell fate specification | IBA |
| GO:0001947 | heart looping | IMP |
| GO:0001947 | heart looping | IBA |
| GO:0003007 | heart morphogenesis | IMP |
| GO:0003151 | outflow tract morphogenesis | IMP |
| GO:0003167 | atrioventricular bundle cell differentiation | IMP |
| GO:0003205 | cardiac chamber development | IBA |
| GO:0007417 | central nervous system development | IBA |
| GO:0007569 | cell aging | ISO |
| GO:0007569 | cell aging | IDA |
| GO:0008284 | positive regulation of cell population proliferation | ISS |
| GO:0008284 | positive regulation of cell population proliferation | ISO |
| GO:0008284 | positive regulation of cell population proliferation | IBA |
| GO:0008595 | anterior/posterior axis specification, embryo | ISS |
| GO:0008595 | anterior/posterior axis specification, embryo | ISO |
| GO:0009887 | animal organ morphogenesis | ISO |
| GO:0010159 | specification of animal organ position | IDA |
| GO:0019827 | stem cell population maintenance | IMP |
| GO:0021761 | limbic system development | IMP |
| GO:0030539 | male genitalia development | ISS |
| GO:0030539 | male genitalia development | ISO |
| GO:0030540 | female genitalia development | ISS |
| GO:0030540 | female genitalia development | ISO |
| GO:0030857 | negative regulation of epithelial cell differentiation | IMP |
| GO:0030879 | mammary gland development | ISO |
| GO:0030879 | mammary gland development | IMP |
| GO:0032275 | luteinizing hormone secretion | ISS |
| GO:0032275 | luteinizing hormone secretion | ISO |
| GO:0035050 | embryonic heart tube development | IMP |
| GO:0035108 | limb morphogenesis | IMP |
| GO:0035115 | embryonic forelimb morphogenesis | ISS |
| GO:0035115 | embryonic forelimb morphogenesis | ISO |
| GO:0035116 | embryonic hindlimb morphogenesis | IMP |
| GO:0035136 | forelimb morphogenesis | ISO |
| GO:0042127 | regulation of cell population proliferation | IMP |
| GO:0042733 | embryonic digit morphogenesis | ISS |
| GO:0042733 | embryonic digit morphogenesis | ISO |
| GO:0042733 | embryonic digit morphogenesis | IMP |
| GO:0043066 | negative regulation of apoptotic process | ISS |
| GO:0043066 | negative regulation of apoptotic process | ISO |
| GO:0045662 | negative regulation of myoblast differentiation | ISS |
| GO:0045662 | negative regulation of myoblast differentiation | ISO |
| GO:0045787 | positive regulation of cell cycle | ISS |
| GO:0045787 | positive regulation of cell cycle | ISO |
| GO:0045892 | negative regulation of transcription, DNA-templated | ISS |
| GO:0045892 | negative regulation of transcription, DNA-templated | ISO |
| GO:0045892 | negative regulation of transcription, DNA-templated | IDA |
| GO:0045892 | negative regulation of transcription, DNA-templated | IMP |
| GO:0045893 | positive regulation of transcription, DNA-templated | IMP |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA |
| GO:0046884 | follicle-stimulating hormone secretion | ISS |
| GO:0046884 | follicle-stimulating hormone secretion | ISO |
| GO:0048332 | mesoderm morphogenesis | ISS |
| GO:0048332 | mesoderm morphogenesis | ISO |
| GO:0055007 | cardiac muscle cell differentiation | IMP |
| GO:0060021 | roof of mouth development | IGI |
| GO:0060412 | ventricular septum morphogenesis | IMP |
| GO:0060444 | branching involved in mammary gland duct morphogenesis | IMP |
| GO:0060596 | mammary placode formation | IGI |
| GO:0060596 | mammary placode formation | IDA |
| GO:0060923 | cardiac muscle cell fate commitment | IMP |
| GO:0060931 | sinoatrial node cell development | IMP |
| GO:0090398 | cellular senescence | ISS |
| GO:0090398 | cellular senescence | ISO |
| GO:2000648 | positive regulation of stem cell proliferation | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISS |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| Reactome ID | Reactome Term | Evidence |
|---|