EPS8L2

Chr 11p15.5

EPS8 signaling adaptor L2

Aliases:: FLJ21935, FLJ22171, MGC3088
MANE:: ENST00000318562.13

OMIM: 614988 ↗NCBI: 64787 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

EPS8L2 · Q9H6S3

v62025-08-01

Predicted Aligned Error matrix for EPS8L2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.1/ 100

Confident

715 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)30%
Low(50–70)10%
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)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hearing loss, autosomal recessive
0.69
deafness
0.65
intellectual developmental disorder with paroxysmal dyskinesia or seizures
0.41
intellectual disability-epilepsy-extrapyramidal syndrome
0.41
intellectual disability, autosomal dominant 24
0.34
ovarian dysfunction
0.30
Non-syndromic genetic deafness
0.20
hereditary disease
0.19
nonsyndromic genetic hearing loss
0.18
Meniere disease
0.18

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

Protein function (UniProt)

Epidermal growth factor receptor kinase substrate 8-like protein 2

Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity)