| Tag | Content |
|---|---|
| Uniprot ID | Q9UIW0; Q53Y33; |
| Entrez ID | 25806 |
| Genbank protein ID | AAH06336.1; EAW99792.1; AAP35683.1; CAB56166.1; |
| Genbank nucleotide ID | NM_012476.2 |
| Ensembl protein ID | ENSP00000234392 |
| Ensembl nucleotide ID | ENSG00000116035 |
| Gene name | Ventral anterior homeobox 2 |
| Gene symbol | VAX2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 16953426 |
| 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 (By similarity). May be a regulator of axial polarization in the retina. |
| Sequence | MGDGGAERDR GPARRAESGG GGGRCGDRSG AGDLRADGGG HSPTEVAGTS ASSPAGSRES 60 GADSDGQPGP GEADHCRRIL VRDAKGTIRE IVLPKGLDLD RPKRTRTSFT AEQLYRLEME 120 FQRCQYVVGR ERTELARQLN LSETQVKVWF QNRRTKQKKD QSRDLEKRAS SSASEAFATS 180 NILRLLEQGR LLSVPRAPSL LALTPSLPGL PASHRGTSLG DPRNSSPRLN PLSSASASPP 240 LPPPLPAVCF SSAPLLDLPA GYELGSSAFE PYSWLERKVG SASSCKKANT |
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.