IRF2BPL

Chr 14q24.3

interferon regulatory factor 2 binding protein like

Aliases:: EAP1, KIAA1865
MANE:: ENST00000238647.5

OMIM: 611720 ↗NCBI: 64207 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

IRF2BPL · Q9H1B7

v62025-08-01

Predicted Aligned Error matrix for IRF2BPL — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.1/ 100

Low

796 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)17%
Low(50–70)11%
Very low(< 50)50%

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
Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
0.82
hereditary disease
0.53
neurodevelopmental disorder
0.44
neurodegenerative disease
0.37
autism spectrum disorder
0.36
Intellectual disability
0.34
Seizure
0.34
Abnormality of the skeletal system
0.29
Global developmental delay
0.27
Spastic paraplegia
0.27

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

Protein function (UniProt)

Probable E3 ubiquitin-protein ligase IRF2BPL

Probable E3 ubiquitin protein ligase involved in the proteasome-mediated ubiquitin-dependent degradation of target proteins (PubMed:29374064). Through the degradation of CTNNB1, functions downstream of FOXF2 to negatively regulate the Wnt signaling pathway (PubMed:29374064). Probably plays a role in the development of the central nervous system and in neuronal maintenance (Probable). Also acts as a transcriptional regulator of genes controlling female reproductive function. May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter (By similarity)