IRF6

Chr 1q32.2

interferon regulatory factor 6

Aliases:: OFC6, VWS1
MANE:: ENST00000367021.8

OMIM: 607199 ↗NCBI: 3664 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

IRF6 · O14896

v62025-08-01

Predicted Aligned Error matrix for IRF6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.5/ 100

Confident

467 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)23%
Low(50–70)7%
Very low(< 50)28%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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

Disease associations (Open Targets)

van der Woude syndrome 1
0.82
popliteal pterygium syndrome
0.80
van der Woude syndrome
0.74
autosomal dominant popliteal pterygium syndrome
0.68
IRF6-related condition
0.62
cleft palate
0.62
cleft lip
0.57
hereditary disease
0.48
tooth agenesis
0.39
Oligodontia
0.39

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

Protein function (UniProt)

Interferon regulatory factor 6

Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity)