PDYN Chromosome 20

Prodynorphin
18 variants 18 Health Risk

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What This Gene Does
The protein encoded by this gene is a preproprotein that is proteolytically processed to form the secreted opioid peptides beta-neoendorphin, dynorphin, leu-enkephalin, rimorphin, and leumorphin. These peptides are ligands for the kappa-type of opioid receptor. Dynorphin is involved in modulating responses to several psychoactive substances, including cocaine. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Neuropeptides
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000101327
Associated Conditions (2)
Inborn genetic diseases
Spinocerebellar ataxia type 23
Key Variants
All Variants (18)
RSID Category Clinical Significance Conditions
RS1028619685 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1171241754 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138498390 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS144748816 Health Risk Conflicting classifications of pathogenicity
RS147355936 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS185551108 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Inborn genetic diseases, Spinocerebellar ataxia type 23
RS201204862 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS201585283 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS267606941 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS376124198 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565210312 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS567558964 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS748307861 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS752953257 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS767631485 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS769461186 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS201486601 Health Risk Likely pathogenic Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS267606939 Health Risk Pathogenic Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
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