ARF3

Chr 12

ARF GTPase 3

NCBI Gene: 377 ENSG00000134287 UniProt: P61204 OMIM: 103190

ADP-ribosylation factor 3 encodes a small GTP-binding protein that regulates vesicle trafficking and modulates vesicle budding and uncoating within the Golgi apparatus. Mutations cause autosomal recessive periventricular nodular heterotopia with intellectual disability and seizures, typically presenting in infancy with developmental delays and brain malformations affecting neuronal migration.

OMIM ResearchSummary from RefSeq, UniProt

ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. [provided by RefSeq, Oct 2022]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.72

LOEUF

Mechanism· G2P