Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
CNGA3 cyclic nucleotide gated channel subunit alpha 3	CNG3 , ACHM2 , CCNC1 , CCNCa , CNCG3 , CCNCalpha	Homo sapiens	9	protein-coding	CNGB1 , CNGB3 , CNGA1 , CNGA2 , CNGA4		600053

Summary

This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0030553	enables cGMP binding	IBA

Component (8)

Go ID	Value	Evidence
0043194	located_in axon initial segment	IEA
0030425	located_in dendrite	IEA
0097386	located_in glial cell projection	IEA
0017071	part_of intracellular cyclic nucleotide activated cation channel complex	IBA
0043204	located_in perikaryon	IEA
0005886	is_active_in plasma membrane	IBA
0005886	located_in plasma membrane	IDA
1902495	part_of transmembrane transporter complex	IDA

Process (9)

Go ID	Value	Evidence
0070588	involved_in calcium ion transmembrane transport	IEA
0098659	involved_in inorganic cation import across plasma membrane	IEA
0098655	involved_in monoatomic cation transmembrane transport	IBA
0006812	involved_in monoatomic cation transport	IMP
0051591	involved_in response to cAMP	IEA
0032026	involved_in response to magnesium ion	IEA
0007165	involved_in signal transduction	TAS
0035725	involved_in sodium ion transmembrane transport	IEA
0007601	involved_in visual perception	IEA

Gene Loss events - CNGA3 (12 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_SPUD0T	Mesoplodon carlhubbsi	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	No	10.1093/molbev/msaa070
GL_YIP2YN	Kogia sima	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	No	10.1093/molbev/msaa070