PABPN1

Chr 14

poly(A) binding protein nuclear 1

Also known as: OPMD, PAB2, PABII, PABP-2, PABP2

NCBI Gene: 8106ENSG00000100836UniProt: Q86U42

This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOculopharyngeal muscular dystrophy 1

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
1
Active trials
36
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.57
LOEUF
GOF
Mechanism· predicted
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GeneReview available — PABPN1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.57LOEUF
pLI 0.392
Z-score 2.67
OE 0.22 (0.10–0.57)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.81Z-score
OE missense 0.59 (0.49–0.70)
89 obs / 151.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.22 (0.10–0.57)
0≤0.351.4
Missense OE?0.59 (0.49–0.70)
0≤0.61.4
Synonymous OE?1.31
0≤1.21.6
LoF obs/exp: 3 / 13.6Missense obs/exp: 89 / 151.6Syn Z: -1.85

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PABPN1 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients