InnateDB: Systems Biology of the Innate Immune Response

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.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0007601	visual perception
GO:0008284	positive regulation of cell proliferation
GO:0008285	negative regulation of cell proliferation
GO:0043010	camera-type eye development
GO:0045165	cell fate commitment
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0050896	response to stimulus
GO:0060040	retinal bipolar neuron differentiation
GO:0060042	retina morphogenesis in camera-type eye