Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
RAX retina and anterior neural fold homeobox	RX , RAX1 , MCOP3 , MCOPS16	Homo sapiens	3	protein-coding	TARBP2 , RAX , PRKRA , RAX2		601881

Summary

This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]

GeneOntology

Function (1)

Go ID	Value	Evidence
0001228	enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA

Component (2)

Go ID	Value	Evidence
0000785	located_in chromatin	ISA
0005634	located_in nucleus	IEA

Process (7)

Go ID	Value	Evidence
0043010	involved_in camera-type eye development	IEA
0021854	involved_in hypothalamus development	IEA
0060173	involved_in limb development	IEA
0007389	involved_in pattern specification process	IEA
0045944	involved_in positive regulation of transcription by RNA polymerase II	IDA
0006357	involved_in regulation of transcription by RNA polymerase II	IBA
0007601	involved_in visual perception	TAS

Gene Loss events - RAX (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_HA6GVB	Carlito syrichta	Primates	Gene deletion	Full	No	10.1093/icb/icy004