PDYN

Chr 20AD

prodynorphin

Also known as: ADCA, PENKB, SCA23

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spinocerebellar ataxia 23MIM #610245
AD

Clinical highlights

Gene-disease validity (ClinGen)
spinocerebellar ataxia type 23 · ADLimitednot for standalone diagnostic reporting
3
Active trials
46
Pubs (1 yr)
P/LP submissions
P/LP missense
1.66
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.66LOEUF
pLI 0.000
Z-score 0.30
OE 0.88 (0.481.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.53Z-score
OE missense 1.12 (0.991.28)
159 obs / 141.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.88 (0.481.66)
00.351.4
Missense OE?1.12 (0.991.28)
00.61.4
Synonymous OE?1.10
01.21.6
LoF obs/exp: 6 / 6.8Missense obs/exp: 159 / 141.4Syn Z: -0.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PDYN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.