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CNGB3 cyclic nucleotide gated channel beta 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_019098 Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006716593 PREDICTED: Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol CNGB3
Entrez Gene ID 54714
Full Name cyclic nucleotide gated channel beta 3
Synonyms ACHM1
General protein information
Preferred Names
cyclic nucleotide-gated cation channel beta-3
Names
cyclic nucleotide-gated cation channel beta-3
CNG channel beta-3
cone photoreceptor cGMP-gated cation channel beta-subunit
cyclic nucleotide-gated cation channel modulatory subunit
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

8

8q21.3

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].
Disorder

MIM: 605080

Achromatopsia-3, 262300 (3); Macular degeneration, juvenile, 248200

mRNA Protein Product Sequence Price Select
NM_019098, 289177194 NP_061971, 116642889 cyclic nucleotide-gated cation channel beta-3 ORF Sequence $750.00
XM_006716593, 578816057 XP_006716656, 578816058 cyclic nucleotide-gated cation channel beta-3 isoform X1 ORF Sequence $700.00
Pathway Interaction Database
cone_pathwayVisual signal transduction: Cones
Homo sapiens (human)CNGB3NP_061971.3
Pan troglodytes (chimpanzee)CNGB3XP_519846.2
Macaca mulatta (Rhesus monkey)CNGB3XP_001083646.1
Canis lupus familiaris (dog)CNGB3NP_001003030.1
Bos taurus (cattle)CNGB3XP_002692873.2
Mus musculus (house mouse)Cngb3NP_038955.1
Rattus norvegicus (Norway rat)Cngb3NP_001258167.1
Gallus gallus (chicken)CNGB3XP_425928.4
Danio rerio (zebrafish)cngb3XP_691142.4
Danio rerio (zebrafish)LOC562466XP_690937.4
Xenopus (Silurana) tropicalis (western clawed frog)cngb3XP_002939202.2
Process
IDNameEvidence
GO:0006810transportNAS
GO:0006812cation transportIDA
GO:0007165signal transductionNAS
GO:0007601visual perceptionIEA
GO:0007603phototransduction, visible lightIBA
GO:0042391regulation of membrane potentialIBA
GO:0071805potassium ion transmembrane transportIBA
Component
IDNameEvidence
GO:0001750photoreceptor outer segmentIEA
GO:0005887integral component of plasma membraneIBA
GO:1902495transmembrane transporter complexIDA
Function
IDNameEvidence
GO:0005222intracellular cAMP activated cation channel activityIBA
GO:0005223intracellular cGMP activated cation channel activityIBA
GO:0005223intracellular cGMP activated cation channel activityIDA
GO:0005249voltage-gated potassium channel activityIBA
GO:0030553cGMP bindingIBA
GO:0030553cGMP bindingIDA
GeneCards CNGB3
UniProt Q9NQW8
Vega OTTHUMG00000163738
MIM 605080
Ensembl ENSG00000170289
HGNC 2153
HPRD 05468

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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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