CNGB3: Cyclic Nucleotide Gated Channel Subunit Beta 3
Key regulator of cone photoreceptor function and color vision
Gene Information Card
| Symbol | CNGB3 |
|---|---|
| Full Name | Cyclic Nucleotide Gated Channel Subunit Beta 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.3 |
| NCBI Gene ID | 54714 ncbi.nlm.nih.gov/gene/54714 |
| Ensembl ID | ENSG00000170271 |
| UniProt ID | Q9NQW8 |
| OMIM ID | 605080 |
| HGNC ID | 2153 |
| Aliases | ACHM3, CNG3, CNGB3 |
Description
The CNGB3 gene encodes the beta-3 subunit of cyclic nucleotide-gated (CNG) channels, which are non-selective cation channels activated by cGMP. These channels are critical for phototransduction in cone photoreceptors of the retina. CNGB3 assembles with CNGA3 to form functional cone CNG channels. Mutations in CNGB3 are a major cause of achromatopsia (total color blindness) and progressive cone dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Achromatopsia 3 | Loss-of-function mutations impair cone CNG channel activity, disrupting phototransduction and causing severe color vision deficiency | OMIM #262300; ClinVar; multiple studies |
| Cone dystrophy | Mutations lead to progressive degeneration of cone photoreceptors | OMIM #613093; ClinVar |
| Macular degeneration (rare) | Some variants associated with central vision loss | ClinVar; limited reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Testis | 1.2 | Low |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.0 | Not expressed |
| Y79 (retinoblastoma) | 0.0 | Not expressed |
| Cone photoreceptor cells (native) | High | Specific expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1148delC (p.Thr383Ilefs*13) | Frameshift | Common in achromatopsia | Loss of function |
| c.886-2A>G | Splice site | Reported | Loss of function |
| c.991-3T>G | Splice site | Rare | Loss of function |
| c.1430G>A (p.Trp477*) | Nonsense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most CNGB3 mutations are loss-of-function, leading to non-functional or absent CNG channels in cone photoreceptors, causing achromatopsia.
Gain of Function (GOF)
Not reported for CNGB3.
Dominant Negative (DN)
Not reported; CNGB3 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phototransduction cascade (Reactome: R-HSA-2514856)
• cGMP-PKG signaling pathway
• Ion channel transport
Protein Summary
CNGB3 is a 809-amino acid protein that forms the beta subunit of cone cyclic nucleotide-gated (CNG) channels. It modulates channel gating, ion selectivity, and trafficking. The protein contains six transmembrane domains, a pore loop, and cyclic nucleotide-binding domain. It is essential for normal cone photoreceptor function and color vision.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNGB3 Knockout HEK293 Cell Line | EDJ-KQ1805 | Human | 54714 | Details Get a Quote |
| CNGB3 Knockout HeLa Cell Line | EDJ-KQ56458 | Human | 54714 | Details Get a Quote |
| CNGB3 Knockout A-549 Cell Line | EDJ-KQ64951 | Human | 54714 | Details Get a Quote |
| CNGB3 Knockout HCT 116 Cell Line | EDJ-KQ73396 | Human | 54714 | Details Get a Quote |
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