PABPN1L

Chr 16

PABPN1 like, cytoplasmic

Also known as: PABPNL1, ePABP2

NCBI Gene: 390748 ENSG00000205022 UniProt: A6NDY0 OMIM: 621397

The PABPN1L protein binds to the poly(A) tail of mRNA and is involved in mRNA degradation processes. No established human diseases have been definitively associated with PABPN1L mutations in the current literature. The gene shows moderate constraint against loss-of-function variants (LOEUF 1.87), suggesting that complete loss of function may be tolerated.

OMIM ResearchSummary from RefSeq, UniProt

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 located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.87

Clinical Summary— PABPN1L

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

70 VUS of 77 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.87LOEUF

pLI 0.000

Z-score -1.42

OE 1.39 (0.98–1.87)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.84Z-score

OE missense 1.19 (1.05–1.34)

191 obs / 161.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.39 (0.98–1.87)

0≤0.351.4

Missense OE?1.19 (1.05–1.34)

0≤0.61.4

Synonymous OE?1.18

0≤1.21.6

LoF obs/exp: 21 / 15.1Missense obs/exp: 191 / 161.1Syn Z: -1.20

ClinVar Variant Classifications

77 submitted variants in ClinVar

ClinVar

Classification Summary

VUS70

Likely Benign7

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	1	69	70
Likely Benign	0	7	7
Benign	0	0	0
Total	1	76	77

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

67 pathogenic / likely-pathogenic (of 91) ClinVar copy-number / structural variants overlap PABPN1L — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →