AlphaFold predicted structure
ERF · P50548
Mean pLDDT
53.8/ 100
Low
548 residues
Confidence breakdown
- Very high(≥ 90)13%
- Confident(70–90)4%
- Low(50–70)19%
- Very low(< 50)64%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ERF
Chr 19q13.2ETS2 repressor factor
- Aliases:
- PE-2, PE2
- MANE:
- ENST00000222329.9
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Common craniosynostosis syndromes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHydrocephalus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
craniosynostosis 4
0.70Chitayat syndrome
0.70craniosynostosis
0.62Lambdoidal craniosynostosis
0.56TWIST1-related craniosynostosis
0.55hereditary disease
0.54neurodegenerative disease
0.53Noonan syndrome
0.50Crouzon disease
0.37Crouzon syndrome
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
ETS domain-containing transcription factor ERF
Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity)