InnateDB Protein
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IDBP-27757.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CNGB3
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Protein Name
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cyclic nucleotide gated channel beta 3
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000316605
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InnateDB Gene
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IDBG-27753 (CNGB3)
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Protein Structure
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Function |
Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. {ECO:0000250, ECO:0000269PubMed:10888875}.
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Subcellular Localization |
Membrane; Multi-pass membrane protein.
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Disease Associations |
Stargardt disease 1 (STGD1) [MIM:248200]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO:0000269PubMed:15712225}. Note=The disease is caused by mutations affecting the gene represented in this entry.Achromatopsia 3 (ACHM3) [MIM:262300]: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia. {ECO:0000269PubMed:10888875, ECO:0000269PubMed:10958649, ECO:0000269PubMed:12357335, ECO:0000269PubMed:14757870, ECO:0000269PubMed:15657609, ECO:0000269PubMed:15712225}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed specifically in the retina. {ECO:0000269PubMed:10958649}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000595
Cyclic nucleotide-binding domain
IPR018490
Cyclic nucleotide-binding-like
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PFAM |
PF00027
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PRINTS |
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PIRSF |
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SMART |
SM00100
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NQW8
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PhosphoSite |
PhosphoSite-Q9NQW8
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
54714
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UniGene |
Hs.154433
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RefSeq |
NP_061971
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HUGO |
HGNC:2153
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OMIM |
605080
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CCDS |
CCDS6244
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HPRD |
05468
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IMGT |
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EMBL |
AC013751
AC090572
AF228520
AF272900
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GenPept |
AAF80179
AAF86274
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