Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
RHO rhodopsin	RP4 , OPN2 , CSNBAD1	Homo sapiens	5	protein-coding	RGR , GPR88 , RRH , OPN4 , OPN5 , OPN1MW2 , OPN1MW3 , OPN1MW , OPN1LW , OPN1SW , OPN1SW , OPN3 , GPR52		180380

Summary

The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017]

GeneOntology

Function (1)

Go ID	Value	Evidence
0005502	enables 11-cis retinal binding	ISS

Component (18)

Go ID	Value	Evidence
0005794	located_in Golgi apparatus	IDA
0000139	located_in Golgi membrane	TAS
0030660	located_in Golgi-associated vesicle membrane	TAS
0005911	located_in cell-cell junction	IEA
0060170	located_in ciliary membrane	TAS
0016020	located_in membrane	ISS
0097381	located_in photoreceptor disc membrane	IDA
0097381	located_in photoreceptor disc membrane	TAS
0001917	located_in photoreceptor inner segment	IDA
0060342	located_in photoreceptor inner segment membrane	IDA
0001750	is_active_in photoreceptor outer segment	IBA
0001750	located_in photoreceptor outer segment	IDA
0042622	located_in photoreceptor outer segment membrane	IDA
0005886	is_active_in plasma membrane	IBA
0005886	located_in plasma membrane	IDA
0120200	located_in rod photoreceptor outer segment	IEA
1990913	located_in sperm head plasma membrane	IEA
0097225	located_in sperm midpiece	IEA

Process (16)

Go ID	Value	Evidence
0016056	involved_in G protein-coupled opsin signaling pathway	ISS
0007186	involved_in G protein-coupled receptor signaling pathway	IBA
0007186	involved_in G protein-coupled receptor signaling pathway	IMP
0016038	involved_in absorption of visible light	ISS
0071482	involved_in cellular response to light stimulus	IBA
0050960	involved_in detection of temperature stimulus involved in thermoception	IEA
0010467	involved_in gene expression	IEA
0000226	involved_in microtubule cytoskeleton organization	IEA
0045494	involved_in photoreceptor cell maintenance	IEA
0007602	involved_in phototransduction	IBA
0007603	involved_in phototransduction, visible light	TAS
0071800	involved_in podosome assembly	IEA
0009642	involved_in response to light intensity	IEA
1904389	involved_in rod bipolar cell differentiation	IEA
0043052	involved_in thermotaxis	IEA
0007601	involved_in visual perception	IEA

Gene Loss events - RHO (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_KDBKIB	Dasypus novemcinctus	Cingulata	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004