PDE6B Chromosome 4
Phosphodiesterase 6B
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What This Gene Does
Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
Phosphodiesterases
Locus Type
gene with protein product
Location
4p16.3
Ensembl
ENSG00000133256
Associated Conditions (19)
Retinitis pigmentosa
Congenital stationary night blindness autosomal dominant 2
Retinal dystrophy
Inborn genetic diseases
PDE6B-related disorder
Retinitis pigmentosa 40
Clear cell carcinoma of kidney
High myopia
Autosomal recessive retinitis pigmentosa
Progressive cone dystrophy (without rod involvement)
Rod-cone dystrophy
See cases
Cone-rod dystrophy
Thyroid cancer
nonmedullary
1
Leber congenital amaurosis
Congenital Stationary Night Blindness
Dominant
Key Variants
RS111504036
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
Health Risk
RS113246945
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinal dystrophy
Health Risk
RS114100439
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
Health Risk
RS115775983
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinal dystrophy
Health Risk
RS1302387853
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1305642045
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138423108
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Retinal dystrophy
Health Risk
RS138682290
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
Health Risk
RS138789637
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
Health Risk
RS140224236
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2, Retinal dystrophy
Health Risk
RS140441389
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141647790
Conflicting classifications of pathogenicity
Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa, Inborn genetic diseases
Health Risk
All Variants (226)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS774502142 | Health Risk | Pathogenic | — |
| RS779052095 | Health Risk | Pathogenic | — |
| RS781375358 | Health Risk | Pathogenic | — |
| RS863223339 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS876657718 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS898144119 | Health Risk | Pathogenic | Retinal dystrophy, Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 40 |
| RS970768801 | Health Risk | Pathogenic | Retinitis pigmentosa 40, Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa 40 |
| RS1064797304 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 40, Leber congenital amaurosis, Retinitis pigmentosa 40 |
| RS1296042817 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 40, Retinal dystrophy, Retinitis pigmentosa 40 |
| RS141563823 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 40, Retinal dystrophy, Retinitis pigmentosa 40 |
| RS1577301589 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1737428529 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1737429976 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 40, Retinal dystrophy |
| RS1737442897 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 40, Retinitis pigmentosa, Retinal dystrophy |
| RS201541131 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 40, Retinitis pigmentosa, Retinal dystrophy |
| RS367879245 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 40, Retinitis pigmentosa 40 |
| RS370898371 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 40 |
| RS398123298 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 40, Autosomal recessive retinitis pigmentosa, Congenital Stationary Night Blindness |
| RS751413984 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 40, Retinal dystrophy, Retinitis pigmentosa 40 |
| RS751859807 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, PDE6B-related disorder, Retinal dystrophy |
| RS763371769 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS764605140 | Health Risk | Pathogenic/Likely pathogenic | Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa 40, Congenital stationary night blindness autosomal dominant 2 |
| RS765804881 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 40, Retinitis pigmentosa 40 |
| RS767438881 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS772057239 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa, PDE6B-related disorder |
| RS869312177 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 40, Retinitis pigmentosa, PDE6B-related disorder |