VAX2 - ventral anterior homeobox 2 Gene
Also Known as DRES93
生物種: Homo sapiens
About VAX2
This gene has 3 transcripts (splice variants), 184 orthologues and 3 paralogues. Low expression observed in reference dataset.
Summary
This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and Other aspects of retinal development. [provided by RefSeq, Sep 2008]
VAX2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_012476.3 | NP_036608.1 | ventral anterior homeobox 2 |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
VAX2 Protein Structure
Homeobox: Homeobox domain (103 - 159)
- 0
- 100
- 200
- 290 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ventral anterior homeobox 2 |
|
VAX2 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
VAX2 | Q9UIW0 | POU6F2 | Homo sapiens | P78424 | 32296183 | |
|
Intra
|
VAX2 | Q9UIW0 | POU6F2 | Homo sapiens | P78424 | 32296183 | |
|
Intra
|
VAX2 | Q9UIW0 | UFSP1 | Homo sapiens | Q6NVU6 | 32296183 | |
|
Intra
|
VAX2 | Q9UIW0 | UFSP1 | Homo sapiens | Q6NVU6 | 32296183 | |
|
Intra
|
VAX2 | Q9UIW0 | PFDN5 | Homo sapiens | Q99471 | 32296183 | |
|
Intra
|
VAX2 | Q9UIW0 | PFDN5 | Homo sapiens | Q99471 | 32296183 |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Astigmatism |
|
|
| Valproate Embryopathy |
|
|
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
|
| Robinow Syndrome, Autosomal Dominant 1 |
|
|
| Cone Dystrophy |
|
|
| Teebi Hypertelorism Syndrome 1 |
|
|
| Spinal Muscular Atrophy, Type Iv |
|
|
| Coloboma Of Macula |
|
|
| Achromatopsia 7 |
|
|
| Retinitis Pigmentosa 12 |
|
|
| Tracheitis |
|
|
| Septooptic Dysplasia |
|
|
| Aniridia 1 |
|
|
| Fundus Dystrophy |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Felis catus | VAX2 | VGNC | VGNC:66928 |
| Rattus norvegicus | VAX2 | RGD | RGD:621133 |
| Macaca mulatta | VAX2 | VGNC | VGNC:78760 |
| Canis familiaris | VAX2 | VGNC | VGNC:54553 |
| Bos taurus | VAX2 | VGNC | VGNC:36776 |
| Mus musculus | VAX2 | MGD | MGI:1346018 |
| Others | VAX2 | NCBI |