PDE6G Chromosome 17
Phosphodiesterase 6G
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What This Gene Does
This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
Phosphodiesterases
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000185527
Associated Conditions (2)
Retinitis pigmentosa
Retinitis pigmentosa 57
Key Variants
RS1555692916
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS181137206
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS546019967
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS775425650
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1598717056
Pathogenic
Retinitis pigmentosa 57, Retinitis pigmentosa, Retinitis pigmentosa 57
Health Risk
RS2036392272
Pathogenic
Health Risk
RS754454113
Pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555692916 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS181137206 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS546019967 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS775425650 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1598717056 | Health Risk | Pathogenic | Retinitis pigmentosa 57, Retinitis pigmentosa, Retinitis pigmentosa 57 |
| RS2036392272 | Health Risk | Pathogenic | — |
| RS754454113 | Health Risk | Pathogenic | — |