Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
VAX2 ventral anterior homeobox 2	DRES93	Homo sapiens	5	protein-coding	GSX1 , VAX1 , EMX2 , NOTO , EMX1		604295

Summary

This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0003700	enables DNA-binding transcription factor activity	NAS

Component (3)

Go ID	Value	Evidence
0000785	located_in chromatin	ISA
0005737	located_in cytoplasm	IEA
0005634	is_active_in nucleus	IBA

Process (13)

Go ID	Value	Evidence
0016055	involved_in Wnt signaling pathway	IEA
0007409	involved_in axonogenesis	IEA
0007420	involved_in brain development	IBA
0007417	involved_in central nervous system development	IBA
0009950	involved_in dorsal/ventral axis specification	IEA
0007398	involved_in ectoderm development	TAS
0048048	involved_in embryonic eye morphogenesis	IEA
0030900	involved_in forebrain development	ISS
0000122	involved_in negative regulation of transcription by RNA polymerase II	IEA
0030182	involved_in neuron differentiation	IBA
0006357	involved_in regulation of transcription by RNA polymerase II	IBA
0060041	involved_in retina development in camera-type eye	IEA
0007601	involved_in visual perception	TAS

Gene Loss events - VAX2 (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_4HPNO8	Orycteropus afer	Tubulidentata	Gene deletion	Full	No	10.1093/icb/icy004