ESRP2

Chr 16q22.1

epithelial splicing regulatory protein 2

Aliases:: FLJ21918
MANE:: ENST00000473183.7

OMIM: 612960 ↗NCBI: 80004 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ESRP2 · Q9H6T0

v62025-08-01

Predicted Aligned Error matrix for ESRP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.0/ 100

Confident

727 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)32%
Low(50–70)7%
Very low(< 50)25%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodegenerative disease
0.47
cleft lip
0.39
Alzheimer disease
0.32
multiple sclerosis
0.32
lysosomal storage disease
0.32
Parkinson disease
0.32
mathematical ability
0.11
breast cancer
0.10
neoplasm
0.10
hepatocellular carcinoma
0.09

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

Protein function (UniProt)

Epithelial splicing regulatory protein 2

mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2