U2AF1

Chr 21

U2 small nuclear RNA auxiliary factor 1

Also known as: FP793, RN, RNU2AF1, U2AF35, U2AFBP

NCBI Gene: 7307ENSG00000160201UniProt: Q01081OMIM: 191317

The U2AF1 protein is essential for accurate RNA splicing, recruiting U2 snRNP to pre-mRNA branch points and mediating critical protein interactions required for proper 3'-splice site selection. This gene is highly constrained against loss-of-function variants (pLI=0.99), but pathogenic variants have not yet been definitively linked to human disease. Given its fundamental role in splicing and extreme intolerance to variation, variants in this gene may potentially cause developmental disorders, though clinical associations remain to be established.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.22
Clinical Summary— U2AF1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.
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Clinical Trials
4 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.22LOEUF
pLI 0.990
Z-score 3.44
OE 0.00 (0.00–0.22)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.85Z-score
OE missense 0.19 (0.14–0.25)
34 obs / 178.8 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.00 (0.00–0.22)
0≤0.351.4
Missense OE0.19 (0.14–0.25)
0≤0.61.4
Synonymous OE0.89
0≤1.21.6
LoF obs/exp: 0 / 13.8Missense obs/exp: 34 / 178.8Syn Z: 0.71
DN
0.3892th %ile
GOF
0.4973th %ile
LOF
0.78top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.22

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

U2AF1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
U2AF1 modulates alternative exon selection and guards zygotic splicing activation in mouse preimplantation embryogenesis.
Jiang ZY et al.·Cell Mol Life Sci
2026Functional
Phosphorylation-dependent regulation of serine/arginine-rich proteins and U2AF1 interactions in early spliceosome assembly.
Zhang Z et al.·J Biol Chem
2026Open Access
Targeting UBE2B-mediated U2AF1 degradation to alleviate endothelial dysfunction in renal ischemia-reperfusion injury: therapeutic potential of semaglutide.
Wang Q et al.·Mol Biol Rep
2025
Mutational Spectrum and Clinical Outcomes of Myelodysplastic/Myeloproliferative Neoplasms: A Single-Institution Study in Korea with Emphasis on U2AF1.
Park MS et al.·J Clin Med
2025Open Access
Discovery of the U2AF1-UHM Inhibitor That Possesses Anti-Leukemia Activity In Vitro.
Patil AD et al.·ACS Med Chem Lett
2025
Top 5 resultsSearch Europe PMC ↗

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