2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
tRNA modificationnucleuscytoplasmsystemic lupus erythematosusGenu varumGenu valgumventricular fibrillation
ANKRD16 encodes an ankyrin repeat domain protein with a well-characterized role in translational fidelity. It functions as a quality control factor that prevents serine misincorporation by binding to alanyl-tRNA synthetase (AARS) and promoting hydrolysis of serine-mischarged tRNA(Ala). This interaction captures misactivated serine, preventing its erroneous charging onto tRNA(Ala). Based on limited published evidence, ANKRD16 has been associated with susceptibility to immunoglobulin A nephropathy in genetic studies 1 and shows subtype-specific effects in breast cancer risk 2, though these associations require further experimental validation.
1
ANKRD16 SNP (rs2296136) associated with IgA nephropathy susceptibility in Korean population
PMID: 314267892
ANKRD16 shows subtype-specific genetic risk effects in breast cancer subtypes
PMID: 24177593β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
systemic lupus erythematosusOpen Targets
ventricular fibrillationOpen Targets
allergic rhinitisOpen Targets
ovarian neoplasmOpen Targets
deep vein thrombosisOpen Targets
Iron deficiency anemiaOpen Targets
smoking initiationOpen Targets
adolescent idiopathic scoliosisOpen Targets
Abnormality of the gastrointestinal tractOpen Targets
disease of peritoneumOpen Targets
IGA glomerulonephritisOpen Targets
gastric adenocarcinomaOpen Targets
triple-negative breast cancerOpen Targets
breast cancerOpen Targets
kidney diseaseOpen Targets
colorectal adenocarcinomaOpen Targets
esophageal cancerOpen Targets
No pathogenic variants reported on ClinVar for this gene.