Gene: VSX2

Alternate names for this Gene: CHX10|HOX10|MCOP2|MCOPCB3|RET1

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: visual system homeobox 2

Type of Gene: protein-coding

rs121912545 in VSX2 gene and MICROPHTHALMIA, ISOLATED 2 PMID 15257456 2004 CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

PMID 21976963 2011 VSX2 mutations in autosomal recessive microphthalmia.

rs121912543 in VSX2 gene and Microphthalmia, Isolated, with Coloboma 3 PMID 17919464 2008 Negative regulation of Vsx1 by its paralog Chx10/Vsx2 is conserved in the vertebrate retina.

PMID 27301076 2016 Regulation of WNT Signaling by VSX2 During Optic Vesicle Patterning in Human Induced Pluripotent Stem Cells.

PMID 10932181 2000 Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.

PMID 24033328 2014 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

PMID 15257456 2004 CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

rs755799430 in VSX2 gene and Microphthalmos PMID 26893459 2016 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.