PDE6B: Phosphodiesterase 6B, cGMP-Specific, Rod, Beta
Key regulator of phototransduction in retinal rod cells; mutations cause retinitis pigmentosa and congenital stationary night blindness.
Gene Information Card
| Symbol | PDE6B |
|---|---|
| Full Name | Phosphodiesterase 6B, cGMP-Specific, Rod, Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 5158 ncbi.nlm.nih.gov/gene/5158 |
| Ensembl ID | ENSG00000133256 |
| UniProt ID | P35913 |
| OMIM ID | 180072 |
| HGNC ID | 8787 |
| Aliases | RP40, CSNB3, PDEB, GMP-PDE6B |
Description
PDE6B encodes the beta subunit of rod cGMP-phosphodiesterase, a key enzyme in the phototransduction cascade. It hydrolyzes cGMP in response to light, closing ion channels and hyperpolarizing the photoreceptor cell. Mutations in PDE6B are associated with autosomal recessive retinitis pigmentosa (RP40) and congenital stationary night blindness (CSNB3).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 40 (RP40) | Loss-of-function mutations impair cGMP hydrolysis, leading to elevated cGMP levels and photoreceptor cell death. | ClinVar, OMIM |
| Congenital stationary night blindness 3 (CSNB3) | Mutations reduce PDE6B activity, disrupting rod phototransduction and causing night blindness without progressive degeneration. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Testis | 0.3 | Low |
| Brain | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.2 | Low expression |
| Y79 (retinoblastoma) | 8.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2197C>T (p.Arg733Ter) | Nonsense | 1.2% in RP40 patients | Loss of function |
| c.998G>A (p.Arg333Gln) | Missense | 0.5% in CSNB3 patients | Loss of function |
| c.1654C>T (p.Arg552Ter) | Nonsense | 0.8% in RP40 patients | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PDE6B mutations are loss-of-function, reducing or abolishing cGMP-PDE activity, leading to elevated cGMP and rod cell death in RP40 or impaired phototransduction in CSNB3.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • 3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114) | • phototransduction (GO:0007602) |
| • photoreceptor outer segment (GO:0001750) | • signal transduction (GO:0007165) |
Pathways
• Phototransduction cascade (Reactome: R-HSA-2514856)
• cGMP-PDE pathway (KEGG: hsa04744)
Protein Summary
PDE6B is a 854-amino acid protein that forms the catalytic core of the rod cGMP-phosphodiesterase heterotetramer (αβγ2). It contains a GAF domain for cGMP binding and a catalytic domain that hydrolyzes cGMP to GMP. The protein is essential for rapid photoresponse recovery and adaptation in rod photoreceptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE6B Knockout HEK293 Cell Line | EDJ-KQ2515 | Human | 5158 | Details Get a Quote |
| PDE6B Knockout HeLa Cell Line | EDJ-KQ54109 | Human | 5158 | Details Get a Quote |
| PDE6B Knockout A-549 Cell Line | EDJ-KQ62596 | Human | 5158 | Details Get a Quote |
| PDE6B Knockout HCT 116 Cell Line | EDJ-KQ71069 | Human | 5158 | Details Get a Quote |
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