PDE6A: Phosphodiesterase 6A, cGMP-Specific, Rod, Alpha
Essential for phototransduction; mutations cause retinitis pigmentosa
Gene Information Card
| Symbol | PDE6A |
|---|---|
| Full Name | Phosphodiesterase 6A, cGMP-Specific, Rod, Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 5q33.1 |
| NCBI Gene ID | 5145 ncbi.nlm.nih.gov/gene/5145 |
| Ensembl ID | ENSG00000132915 |
| UniProt ID | P16499 |
| OMIM ID | 180071 |
| HGNC ID | 8786 |
| Aliases | PDE6A, RP43, GMP-PDE alpha, cGMP-PDE alpha |
Description
PDE6A encodes the alpha subunit of rod cGMP-phosphodiesterase 6 (PDE6), a key enzyme in the phototransduction cascade. PDE6 hydrolyzes cGMP in response to light, closing cyclic nucleotide-gated channels and hyperpolarizing the photoreceptor cell. Mutations in PDE6A cause autosomal recessive retinitis pigmentosa (RP43), characterized by progressive rod-cone degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 43 (RP43) | Loss-of-function mutations impair cGMP hydrolysis, leading to elevated cGMP levels and photoreceptor cell death | ClinVar, OMIM #613810 |
| Retinitis pigmentosa (general) | Biallelic PDE6A variants disrupt rod phototransduction | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 27.8 | High |
| Testis | 0.2 | Low |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 | 0.0 | Not expressed |
| Y79 retinoblastoma | 15.3 | Moderate expression |
| HEK293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.998G>A (p.Arg333Gln) | Missense | Rare | Reduced catalytic activity |
| c.1685G>A (p.Trp562*) | Nonsense | Rare | Premature truncation, loss of function |
| c.2053C>T (p.Arg685Trp) | Missense | Rare | Impaired protein stability |
Mutation functional classification
Loss of Function (LOF)
Most PDE6A mutations are loss-of-function, leading to autosomal recessive retinitis pigmentosa.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • 3' | • 5'-cyclic-GMP phosphodiesterase activity |
| • cGMP binding | • phototransduction |
| • visual perception | • response to light stimulus |
Pathways
• Phototransduction cascade (Reactome R-HSA-2514856)
• cGMP-PDE pathway
Protein Summary
PDE6A is the 99 kDa alpha subunit of the rod PDE6 holoenzyme (alpha, beta, and two inhibitory gamma subunits). It contains a catalytic domain that hydrolyzes cGMP to GMP. The protein is expressed exclusively in rod photoreceptor outer segments and is essential for rapid light response.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDE6A Knockout HEK293 Cell Line | EDJ-KQ5426 | Human | 5145 | Details Get a Quote |
| PDE6A Knockout HeLa Cell Line | EDJ-KQ54101 | Human | 5145 | Details Get a Quote |
| PDE6A Knockout A-549 Cell Line | EDJ-KQ62590 | Human | 5145 | Details Get a Quote |
| PDE6A Knockout HCT 116 Cell Line | EDJ-KQ71062 | Human | 5145 | Details Get a Quote |
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