Reference Gene
Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
---|---|---|---|---|---|---|---|
VSX2 visual system homeobox 2 | RET1 , CHX10 , HOX10 , MCOP2 , MCOPCB3 | Homo sapiens | 5 | protein-coding | 142993 |
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. [provided by RefSeq, Oct 2009]
GeneOntology
Gene Loss events - VSX2 (1 results)
GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
---|---|---|---|---|---|---|
GL_QXDZZT | Condylura cristata | Eulipotyphla | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |