Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
PDE6H phosphodiesterase 6H	RCD3 , ACHM6	Homo sapiens	4	protein-coding		3.1.4.35	601190

Summary

This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]

GeneOntology

Go ID	Value	Evidence
0030553	enables cGMP binding	IEA

Go ID	Value	Evidence
0042622	is_active_in photoreceptor outer segment membrane	IBA

Go ID	Value	Evidence
0045745	involved_in positive regulation of G protein-coupled receptor signaling pathway	IBA
0043410	involved_in positive regulation of MAPK cascade	IEA
0045742	involved_in positive regulation of epidermal growth factor receptor signaling pathway	IBA
0007601	involved_in visual perception	IEA

Gene Loss events - PDE6H (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_IPCN3W	Dasypus novemcinctus	Cingulata	Gene deletion	Full	No	10.1093/icb/icy004

Reference Gene

Summary

GeneOntology

Function (1)

Component (1)

Process (4)

Gene Loss events - PDE6H (1 results)