EBF3

Chr 10q26.3

EBF transcription factor 3

Aliases:: COE3, DKFZp667B0210
MANE:: ENST00000440978.2

OMIM: 607407 ↗NCBI: 253738 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

EBF3 · Q9H4W6

v62025-08-01

Predicted Aligned Error matrix for EBF3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.6/ 100

Confident

596 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)14%
Low(50–70)5%
Very low(< 50)37%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

hypotonia, ataxia, and delayed development syndrome
0.79
Leukoencephalopathy - ataxia - hypodontia - hypomyelination
0.67
hereditary disease
0.54
Intellectual disability
0.49
neurodegenerative disease
0.48
Global developmental delay
0.47
Ataxia
0.43
Hypotonia
0.43
Expressive language delay
0.43
Generalized hypotonia
0.42

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

Protein function (UniProt)

Transcription factor COE3

Transcriptional activator (PubMed:28017370, PubMed:28017372, PubMed:28017373). Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity)