PABPN1L

Chr 16

PABPN1 like, cytoplasmic

Also known as: PABPNL1, ePABP2

Predicted to enable poly(A) binding activity. Predicted to be involved in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay. Predicted to act upstream of or within maternal-to-zygotic transition of gene expression; negative regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process; and negative regulation of protein ubiquitination. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.87
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.87LOEUF
pLI 0.000
Z-score -1.42
OE 1.39 (0.981.87)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.84Z-score
OE missense 1.19 (1.051.34)
191 obs / 161.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.39 (0.981.87)
00.351.4
Missense OE?1.19 (1.051.34)
00.61.4
Synonymous OE?1.18
01.21.6
LoF obs/exp: 21 / 15.1Missense obs/exp: 191 / 161.1Syn Z: -1.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PABPN1L · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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