This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytopl
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name
Clinical Significance
dbSNP ID
RCV Accession
Evidence Score
Immunodeficiency 113 with autoimmunity and autoinflammation
["Endocytosis","Tight junction","Fc gamma R-mediated phagocytosis","Regulation of actin cytoskeleton","Bacterial invasion of epithelial cells","Pathogenic Escherichia coli infection","Shigellosis","Salmonella infection","Yersinia infection","Regulation of actin dynamics for phagocytic cup formation","RHO GTPases Activate WASPs and WAVEs","FCGR3A-mediated phagocytosis"]
["Regulation of actin cytoskeleton","Pathogenic Escherichia coli infection","Salmonella infection","Regulation of actin dynamics for phagocytic cup formation","RHO GTPases Activate WASPs and WAVEs","FCGR3A-mediated phagocytosis"]
["Endocytosis","Tight junction","Fc gamma R-mediated phagocytosis","Regulation of actin cytoskeleton","Bacterial invasion of epithelial cells","Pathogenic Escherichia coli infection","Shigellosis","Salmonella infection","Yersinia infection","Regulation of actin dynamics for phagocytic cup formation","RHO GTPases Activate WASPs and WAVEs","FCGR3A-mediated phagocytosis"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to ARPC5 (see Related Genes above), that are NOT already directly curated for ARPC5 itself -- a lead worth checking, not a confirmed association.