U2AF2

Chr 19q13.42

U2 small nuclear RNA auxiliary factor 2

Aliases:: U2AF65
MANE:: ENST00000308924.9

OMIM: 191318 ↗NCBI: 11338 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

U2AF2 · P26368

v62025-08-01

Predicted Aligned Error matrix for U2AF2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.2/ 100

Confident

475 residues

Confidence breakdown

Very high(≥ 90)31%
Confident(70–90)33%
Low(50–70)11%
Very low(< 50)25%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

developmental delay, dysmorphic facies, and brain anomalies
0.64
neurodevelopmental disorder
0.58
hereditary disease
0.47
Intellectual disability
0.46
acute myeloid leukemia
0.37
dengue disease
0.37
neurodegenerative disease
0.35
leukodystrophy
0.26
stroke disorder
0.10
alcohol drinking
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Splicing factor U2AF 65 kDa subunit

Plays a role in pre-mRNA splicing and 3'-end processing (PubMed:17024186). By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing (PubMed:21536736). Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required for the export of mRNA out of the nucleus, even if the mRNA is encoded by an intron-less gene. Represses the splicing of MAPT/Tau exon 10. Positively regulates pre-mRNA 3'-end processing by recruiting the CFIm complex to cleavage and polyadenylation signals (PubMed:17024186)

Curated MONDO disease pages that list U2AF2 among their top associated genes.

neurodevelopmental disorderRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with U2AF2