HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
U2AF2
U2 small nuclear RNA auxiliary factor 2
Chromosome 19 Β· 19q13.42
NCBI Gene: 11338Ensembl: ENSG00000063244.15HGNC: HGNC:23156UniProt: P26368
322PubMed Papers
21Diseases
0Drugs
12Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
U2-type prespliceosomeU2AF complexRNA bindingprotein bindingdevelopmental delay, dysmorphic facies, and brain anomaliesNeurodevelopmental disordergenetic disorderIntellectual disability
✦AI Summary

U2AF2 is an essential RNA-binding protein that plays critical roles in pre-mRNA splicing and transcriptional regulation. The protein functions as part of the U2AF heterodimer complex, binding to polypyrimidine tracts at 3' splice sites during spliceosome assembly 1. U2AF2 exhibits chr19-binding properties throughout gene bodies, requiring histone H3-lysine36 trimethylation, and preferentially occupies exons of highly expressed genes to enhance exon selection accuracy 2. The protein facilitates recursive splicing of large introns by supporting splicing at ratchet points 3. Beyond splicing, U2AF2 regulates mRNA stability through interactions with other RNA-binding proteins and influences alternative splicing of genes like EIF2AK2 4. Disease relevance is significant, as de novo missense variants in U2AF2 cause neurodevelopmental disorders characterized by intellectual disability, epilepsy, and brain anomalies 5. These pathogenic variants can disrupt normal splicing function, with some causing exon skipping and protein truncation 6. Clinically, U2AF2 dysfunction leads to reduced neuritogenesis and cellular proliferation defects 56. The protein also serves as a tumor antigen recognized by T cells in colorectal cancer 7, highlighting its broader clinical significance in both neurodevelopmental and oncological contexts.

Sources cited
1
U2AF2 functions as part of the U2AF heterodimer complex, binding to 3' splice sites during spliceosome assembly
PMID: 35303483
2
U2AF2 binds chromatin throughout gene bodies requiring histone H3-lysine36 trimethylation and enhances exon selection accuracy
PMID: 40315850
3
U2AF2 facilitates recursive splicing of large introns at ratchet points
PMID: 25970244
4
U2AF2 regulates alternative splicing of EIF2AK2 and mRNA stability
PMID: 40433695
5
De novo U2AF2 missense variants cause neurodevelopmental disorders with intellectual disability, epilepsy, and brain anomalies
PMID: 37962958
6
Pathogenic U2AF2 variants can cause exon skipping, protein truncation, and cellular proliferation defects
PMID: 36747105
7
U2AF2 serves as a tumor antigen recognized by T cells in colorectal cancer
PMID: 29275860
Disease Associationsβ“˜21
developmental delay, dysmorphic facies, and brain anomaliesOpen Targets
0.64Moderate
Neurodevelopmental disorderOpen Targets
0.58Moderate
genetic disorderOpen Targets
0.47Moderate
Intellectual disabilityOpen Targets
0.46Moderate
acute myeloid leukemiaOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.35Weak
leukodystrophyOpen Targets
0.26Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
lumbar disc degenerationOpen Targets
0.06Suggestive
melanomaOpen Targets
0.05Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.04Suggestive
leiomyosarcomaOpen Targets
0.04Suggestive
22q11.2 deletion syndromeOpen Targets
0.03Suggestive
hyperostosis corticalis generalisataOpen Targets
0.03Suggestive
ghosal hematodiaphyseal dysplasiaOpen Targets
0.03Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.03Suggestive
osteopetrosis, autosomal recessive 9Open Targets
0.03Suggestive
Developmental delay, dysmorphic facies, and brain anomaliesUniProt
Pathogenic Variants12
NM_007279.3(U2AF2):c.448C>T (p.Arg150Cys)Pathogenic
not provided|Developmental delay, dysmorphic facies, and brain anomalies|U2AF2-related neurodevelopmental disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 150
NM_007279.3(U2AF2):c.457G>A (p.Val153Met)Pathogenic
not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 153
NM_007279.3(U2AF2):c.445C>T (p.Arg149Trp)Pathogenic
not provided|Developmental delay, dysmorphic facies, and brain anomalies|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 149
NM_007279.3(U2AF2):c.449G>A (p.Arg150His)Pathogenic
Inborn genetic diseases|Developmental delay, dysmorphic facies, and brain anomalies
β˜…β˜…β˜†β˜†2025β†’ Residue 150
NM_007279.3(U2AF2):c.794G>A (p.Gly265Asp)Likely pathogenic
Developmental delay, dysmorphic facies, and brain anomalies
β˜…β˜†β˜†β˜†2025β†’ Residue 265
NM_007279.3(U2AF2):c.587A>C (p.Asn196Thr)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 196
NM_007279.3(U2AF2):c.368C>T (p.Pro123Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 123
NM_007279.3(U2AF2):c.530G>T (p.Gly177Val)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 177
NM_007279.3(U2AF2):c.746T>A (p.Val249Asp)Likely pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 249
NM_007279.3(U2AF2):c.694T>C (p.Tyr232His)Likely pathogenic
Developmental delay, dysmorphic facies, and brain anomalies
β˜…β˜†β˜†β˜†2022β†’ Residue 232
NM_007279.3(U2AF2):c.603G>T (p.Glu201Asp)Pathogenic
Developmental delay, dysmorphic facies, and brain anomalies
β˜†β˜†β˜†β˜†2023β†’ Residue 201
NM_007279.3(U2AF2):c.470C>T (p.Pro157Leu)Likely pathogenic
Leukodystrophy
β˜†β˜†β˜†β˜†2023β†’ Residue 157
View on ClinVar β†—
Related Genes
DEKProtein interaction100%SF3B3Protein interaction100%SF3B5Protein interaction100%SF3A2Protein interaction100%SNRPA1Protein interaction100%SF3B1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
77%
Liver
67%
Lung
66%
Brain
45%
Heart
41%
Gene Interaction Network
Click a node to explore
U2AF2DEKSF3B3SF3B5SF3A2SNRPA1SF3B1
PROTEIN STRUCTURE
Preparing viewer…
PDB5W0G Β· 1.07 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.21Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.10 [0.05–0.21]
RankingsWhere U2AF2 stands among ~20K protein-coding genes
  • #1,035of 20,598
    Most Researched322 Β· top 10%
  • #2,643of 5,498
    Most Pathogenic Variants12
  • #500of 17,882
    Most Constrained (LOEUF)0.21 Β· top 5%
Genes detectedU2AF2
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
PMID: 37962958
J Clin Invest Β· 2024
1.00
2
Chromatin-bound U2AF2 splicing factor ensures exon inclusion.
PMID: 40315850
Mol Cell Β· 2025
0.90
3
Genome-wide identification of zero nucleotide recursive splicing in Drosophila.
PMID: 25970244
Nature Β· 2015
0.80
4
FUBP1 is a general splicing factor facilitating 3' splice site recognition and splicing of long introns.
PMID: 37506698
Mol Cell Β· 2023
0.76
5
An Unusual U2AF2 Inhibits Splicing and Attenuates the Virulence of the Human Protozoan Parasite
PMID: 35782149
Front Cell Infect Microbiol Β· 2022
0.72