AlphaFold predicted structure
ARF3 · P61204
Mean pLDDT
86.1/ 100
Confident
181 residues
Confidence breakdown
- Very high(≥ 90)58%
- Confident(70–90)30%
- Low(50–70)7%
- Very low(< 50)5%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ARF3
Chr 12q13.12ARF GTPase 3
- MANE:
- ENST00000256682.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
Intellectual disability
0.63microcephaly
0.62Seizure
0.61Global developmental delay
0.59Atrophy/Degeneration affecting the central nervous system
0.51central nervous system disorder
0.50Morphological central nervous system abnormality
0.50scoliosis
0.45Hypotonia
0.45dystonic disorder
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
ADP-ribosylation factor 3
GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus
Diseases associated with ARF3
Curated MONDO disease pages that list ARF3 among their top associated genes.