VSX2 gene

visual system homeobox 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Microphthalmia, isolated, with coloboma 3
  • Microphthalmia, isolated 2

From UniProt:

Microphthalmia, isolated, with coloboma, 3 (MCOPCB3): 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). [MIM:610092]

Microphthalmia, isolated, 2 (MCOP2): 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. [MIM:610093]

Microphthalmia with cataracts and iris abnormalities (MCOPCTI): 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. [MIM:610092]

Cytogenetic Location: 14q24.3, which is the long (q) arm of chromosome 14 at position 24.3

Molecular Location: base pairs 74,239,449 to 74,262,738 on chromosome 14 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 14q24.3, which is the long (q) arm of chromosome 14 at position 24.3
  • CHX10
  • HOX10
  • MCOP2
  • MCOPCB3
  • RET1