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:

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.

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 74,239,472 to 74,262,738 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

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