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, Isolated, With Coloboma 3. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is ARX.
UniProtKB/Swiss-Prot Summary for VSX2 Gene
Acts as a transcriptional regulator through binding to DNA at the consensus sequence 5'-[TC]TAATT[AG][AG]-3' upstream of gene promoters (PubMed:27301076). Plays a significant role in the specification and morphogenesis of the sensory retina (By similarity). Mediates differentiation of V2a interneurons by repression of motor neuron gene transcription, via competitively binding to response elements that are activated by the ISL1-LHX3 complex, such as VSX1 (PubMed:17919464, PubMed:27477290). Acts as a positive transcriptional regulator of NXNL1; regulation is significantly increased in synergy with VSX1 (By similarity). Acts as a negative transcriptional regulator of MITF (By similarity). Represses SAG transcription by competitive inhibition of ISL1-LHX3 response elements (PubMed:16236706, PubMed:27477290). Binds to the photoreceptor conserved element-1 (PCE-1) in the promoter of rod photoreceptor arrestin SAG and acts as a transcriptional repressor (By similarity). Plays a significant role in the specification and morphogenesis of the sensory retina (By similarity). Involved in the development of retinal ganglion cells (RGCs) which leads to release of SHH by RGCs, promoting Hedgehog signaling and subsequent proliferation of retinal progenitor cells (By similarity). Participates in the development of the cells of the inner nuclear layer, by promoting postnatal differentiation of bipolar cells with a comparable inhibition of rod cell differentiation (By similarity). May play a role in the maintenance of neural retina identity during development by regulation of canonical Wnt genes and CTNNB1 localization, suggesting a role in the regulation of canonical Wnt signaling (PubMed:27301076).