| Tag | Content |
|---|---|
| Uniprot ID | Q9WTP9 |
| Entrez ID | 24113 |
| Genbank protein ID | BAA76867.1; AAF21632.1; CAB56169.1; |
| Genbank nucleotide ID | NM_011912.3 |
| Ensembl protein ID | ENSMUSP00000035976 |
| Ensembl nucleotide ID | ENSMUSG00000034777 |
| Gene name | Ventral anterior homeobox 2 |
| Gene symbol | Vax2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 15905411 |
| Functional description | Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a potent dominant-negative Wnt antagonist. Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle. May be a regulator of axial polarization in the retina. |
| Sequence | MGDGGAERDR GPKRREEPGG RSGRHGEHRG AEDLRADTGS ASPREIAGTS ASSPAGSRES 60 GGDSDGQQAL GETDHCRRIL VRDAKGTIRE IVLPKGLDLD RPKRTRTSFT AEQLYRLEME 120 FQRCQYVVGR ERTELARQLN LSETQVKVWF QNRRTKQKKD QSRDLEKRAS SSASEAFATS 180 NVLRLLEQGR LLSVPRAPSL LALTPGLPGL PASHRGTSLV DPRNSSPRLN PMPSASASSP 240 LPPPLPAICF SSAPLLDLPA GYKLGSSAFE PYSRLEQQKV GSPGQSDKKA DI 292 |
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 | VAX2 | 539808 | E1BBM6 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | VAX2 | 102188324 | A0A452E6B0 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | VAX2 | 25806 | Q9UIW0 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Vax2 | 24113 | Q9WTP9 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | VAX2 | A0A2I3SNN0 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | VAX2 | F1SLE1 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Vax2 | G3V7R0 | Rattus norvegicus | Prediction | More>> | |||
| 1:1 ortholog | vax2 | 373869 | Q801E1 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | IBA |
| GO:0001162 | RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding | IDA |
| GO:0001162 | RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding | IBA |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IBA |
| GO:0031490 | chromatin DNA binding | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IGI |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA |
| GO:0007409 | axonogenesis | IMP |
| GO:0007417 | central nervous system development | IBA |
| GO:0007601 | visual perception | IEA |
| GO:0009950 | dorsal/ventral axis specification | IMP |
| GO:0016055 | Wnt signaling pathway | IEA |
| GO:0030182 | neuron differentiation | IBA |
| GO:0030900 | forebrain development | IMP |
| GO:0043010 | camera-type eye development | IGI |
| GO:0048048 | embryonic eye morphogenesis | IDA |
| GO:0048048 | embryonic eye morphogenesis | IMP |
| GO:0060041 | retina development in camera-type eye | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | IDA |
| GO:0005634 | nucleus | IBA |
| GO:0005737 | cytoplasm | IDA |
| Reactome ID | Reactome Term | Evidence |
|---|
| Pfam ID | Pfam Term |
|---|---|
| PF00046 | Homeodomain |