Aliases for VSX2 Gene
External Ids for VSX2 Gene
Previous HGNC Symbols for VSX2 Gene
Previous GeneCards Identifiers for VSX2 Gene
This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]
GeneCards Summary for VSX2 Gene
VSX2 (Visual System Homeobox 2) is a Protein Coding gene. Diseases associated with VSX2 include microphthalmia, isolated 2 and microphthalmia with coloboma 3. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is PITX3.
UniProtKB/Swiss-Prot for VSX2 Gene
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).