Sequence in raw or FASTA format:
CNGB3 cyclic nucleotide gated channel beta 3 [Homo sapiens (human)]
|Entrez Gene ID||54714|
|Full Name||cyclic nucleotide gated channel beta 3|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Achromatopsia-3, 262300 (3); Macular degeneration, juvenile, 248200
|cone_pathway||Visual signal transduction: Cones|
|Homo sapiens (human)||CNGB3||NP_061971.3|
|Pan troglodytes (chimpanzee)||CNGB3||XP_519846.2|
|Macaca mulatta (Rhesus monkey)||CNGB3||XP_001083646.1|
|Canis lupus familiaris (dog)||CNGB3||NP_001003030.1|
|Bos taurus (cattle)||CNGB3||XP_002692873.2|
|Mus musculus (house mouse)||Cngb3||NP_038955.1|
|Rattus norvegicus (Norway rat)||Cngb3||NP_001258167.1|
|Gallus gallus (chicken)||CNGB3||XP_425928.4|
|Danio rerio (zebrafish)||cngb3||XP_691142.4|
|Danio rerio (zebrafish)||LOC562466||XP_690937.4|
|Xenopus (Silurana) tropicalis (western clawed frog)||cngb3||XP_002939202.2|
|GO:0007603||phototransduction, visible light||IBA|
|GO:0042391||regulation of membrane potential||IBA|
|GO:0071805||potassium ion transmembrane transport||IBA|
|GO:0001750||photoreceptor outer segment||IEA|
|GO:0005887||integral component of plasma membrane||IBA|
|GO:1902495||transmembrane transporter complex||IDA|
|GO:0005222||intracellular cAMP activated cation channel activity||IBA|
|GO:0005223||intracellular cGMP activated cation channel activity||IBA|
|GO:0005223||intracellular cGMP activated cation channel activity||IDA|
|GO:0005249||voltage-gated potassium channel activity||IBA|
What is the normal function of the CNGB3 gene?
The CNGB3 gene provides instructions for making a protein that forms part of an ion channel. Ion channels are openings in the cell membrane that transport electrically charged atoms (ions) into and out of cells. Specifically, the CNGB3 protein is part of a family of proteins that form cyclic nucleotide-gated (CNG) channels. CNG channels are involved in transmitting information about vision and smell from sensory cells to the brain.
The CNGB3 protein forms one part (the beta subunit) of a CNG channel that is necessary for normal vision. These channels are present in light receptor cells called cones. As part of the light-sensitive tissue at the back of the eye (the retina), cones provide vision in bright light, including color vision. Other light receptor cells in the retina, called rods, are responsible for vision in low light.
In cones, CNG channels remain open under dark conditions. Positively charged ions can flow into the cell through these open channels. In response to light, these channels close to stop the inward flow of ions. This change in ion transport alters the cone cell's electrical charge, which generates a signal that the brain interprets as vision.
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