PDCD2

Chr 6

programmed cell death 2

Also known as: RP8, ZMYND7

This protein functions as a chaperone for ribosomal protein uS5, cotranslationally associating with uS5 and accompanying it to ribosomal assembly sites in the nucleus. The gene is not highly constrained against loss-of-function variants and currently lacks established disease associations in OMIM, though it appears to function redundantly with PDCD2L in ribosomal protein chaperoning.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.37
Clinical SummaryPDCD2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.37LOEUF
pLI 0.000
Z-score 0.57
OE 0.83 (0.521.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.05Z-score
OE missense 0.99 (0.861.13)
149 obs / 150.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.83 (0.521.37)
00.351.4
Missense OE0.99 (0.861.13)
00.61.4
Synonymous OE1.01
01.21.6
LoF obs/exp: 11 / 13.3Missense obs/exp: 149 / 150.8Syn Z: -0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PDCD2 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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