Homo sapiens Protein: VSX2 | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-11937.5 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | VSX2 | ||||||||||||||||||||||
Protein Name | visual system homeobox 2 | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000261980 | ||||||||||||||||||||||
InnateDB Gene | IDBG-11935 (VSX2) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Plays a significant role in the specification and morphogenesis of the sensory retina. May also participate in the development of the cells of the inner nuclear layer, particularly bipolar cells (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus. | ||||||||||||||||||||||
Disease Associations | Microphthalmia, isolated, 2 (MCOP2) [MIM:610093]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269PubMed:15257456, ECO:0000269PubMed:21976963}. Note=The disease is caused by mutations affecting the gene represented in this entry.Microphthalmia with cataracts and iris abnormalities (MCOPCTI) [MIM:610092]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. {ECO:0000269PubMed:10932181}. Note=The disease is caused by mutations affecting the gene represented in this entry.Microphthalmia, isolated, with coloboma, 3 (MCOPCB3) [MIM:610092]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269PubMed:15257456}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Abundantly expressed in retinal neuroblasts during eye development and in the inner nuclear layer of the adult retina. Within this layer, expression is stronger in the outer margin where bipolar cells predominate. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001356
Homeobox domain IPR003654 OAR domain IPR009057 Homeodomain-like |
||||||||||||||||||||||
PFAM |
PF00046
PF03826 |
||||||||||||||||||||||
PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00389
|
||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | P58304 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-P58304 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 338917 | ||||||||||||||||||||||
UniGene | Hs.449771 | ||||||||||||||||||||||
RefSeq | NP_878314 | ||||||||||||||||||||||
HUGO | HGNC:1975 | ||||||||||||||||||||||
OMIM | 142993 | ||||||||||||||||||||||
CCDS | CCDS9827 | ||||||||||||||||||||||
HPRD | 08852 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC005519 AC006349 AY336059 BC128153 CH471061 | ||||||||||||||||||||||
GenPept | AAI28154 AAQ01593 EAW81164 | ||||||||||||||||||||||