VSX2

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]

Full Name

Visual System Homeobox 2

Biological Process

Biological Process negative regulation of transcription by RNA polymerase II Source:NTNU_SB1 Publication
Biological Process regulation of transcription by RNA polymerase II Source:GO_Central1 Publication
Biological Process response to stimulus Source:UniProtKB-KW
Biological Process visual perception Source:UniProtKB-KW

Cellular Location

Nucleus

Involvement in disease

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.
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.
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).