Reference Gene
| Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
|---|---|---|---|---|---|---|---|
| CNGB3 cyclic nucleotide gated channel subunit beta 3 | ACHM1 | Homo sapiens | 19 | protein-coding | CNGB1 , CNGA1 , CNGA2 , CNGA4 , CNGA3 | 605080 |
Summary
This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]
GeneOntology
Gene Loss events - CNGB3 (8 results)
| GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
|---|---|---|---|---|---|---|
| GL_9Q1JHN | Chrysochloris asiatica | Afrosoricida | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |
| GL_BCO6IQ | Nannospalax galili | Rodentia | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |
| GL_ITSELL | Kogia sima | Artiodactyla | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/molbev/msaa070 |
| GL_L3P2DR | Tupaia chinensis | Scandentia | Gene deletion | Full | No | 10.1093/icb/icy004 |
| GL_PWCALZ | Balaenoptera acutorostrata | Artiodactyla | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/molbev/msaa070 |
| GL_R8CEEZ | Mesoplodon mirus | Artiodactyla | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/molbev/msaa070 |
| GL_VCNTPS | Fukomys damarensis | Rodentia | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |
| GL_VTFNOT | Dasypus novemcinctus | Cingulata | LOF (frameshift, premature stop, ss) | Full | No | 10.1093/icb/icy004 |