Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
PDE6B phosphodiesterase 6B	rd1 , PDEB , RP40 , CSNB3 , CSNBAD2 , GMP-PDEbeta	Homo sapiens	23	protein-coding	PDE9A , PDE1A , PDE1B , PDE1C , PDE2A , PDE10A , PDE11A , PDE6A , PDE6C , PDE5A , PDE8A , PDE8B , PDE7A , PDE7B , PDE3A , PDE3B , PDE4C , PDE4A , PDE4D , PDE4B	3.1.4.35	180072

Summary

Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

GeneOntology

Function (1)

Go ID	Value	Evidence
0004115	enables 3',5'-cyclic-AMP phosphodiesterase activity	IBA

Component (3)

Go ID	Value	Evidence
0097381	located_in photoreceptor disc membrane	TAS
0042622	is_active_in photoreceptor outer segment membrane	IBA
0005886	located_in plasma membrane	TAS

Process (6)

Go ID	Value	Evidence
0019933	involved_in cAMP-mediated signaling	IBA
0043153	involved_in entrainment of circadian clock by photoperiod	ISS
0007603	involved_in phototransduction, visible light	TAS
0060041	involved_in retina development in camera-type eye	IBA
1990009	involved_in retinal cell apoptotic process	IEA
0007601	involved_in visual perception	IEA

Gene Loss events - PDE6B (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_5MFXZK	Condylura cristata	Eulipotyphla	Gene deletion	Full	No	10.1093/icb/icy004