Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
IRX5 iroquois homeobox 5	HMMS , IRXB2 , IRX-2a	Homo sapiens	4	protein-coding			606195

Summary

This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

GeneOntology

Function (1)

Go ID	Value	Evidence
0000981	enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA

Component (2)

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

Process (6)

Go ID	Value	Evidence
0048468	involved_in cell development	IBA
0048701	involved_in embryonic cranial skeleton morphogenesis	IMP
0008406	involved_in gonad development	IMP
0030182	involved_in neuron differentiation	IBA
0006357	involved_in regulation of transcription by RNA polymerase II	IBA
0007601	involved_in visual perception	IEA

Gene Loss events - IRX5 (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_W9VCII	Tupaia chinensis	Scandentia	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004