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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ANKRD16
ankyrin repeat domain 16
Chromosome 10 Β· 10p15.1
NCBI Gene: 54522Ensembl: ENSG00000134461.17HGNC: HGNC:23471UniProt: Q6P6B7
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
tRNA modificationnucleuscytoplasmsystemic lupus erythematosusGenu varumGenu valgumventricular fibrillation
✦AI Summary

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.

Sources cited
1
ANKRD16 SNP (rs2296136) associated with IgA nephropathy susceptibility in Korean population
PMID: 31426789
2
ANKRD16 shows subtype-specific genetic risk effects in breast cancer subtypes
PMID: 24177593
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
systemic lupus erythematosusOpen Targets
0.29Weak
Genu valgumOpen Targets
0.27Weak
Genu varumOpen Targets
0.27Weak
ventricular fibrillationOpen Targets
0.15Weak
allergic rhinitisOpen Targets
0.08Suggestive
ovarian neoplasmOpen Targets
0.07Suggestive
deep vein thrombosisOpen Targets
0.07Suggestive
Iron deficiency anemiaOpen Targets
0.04Suggestive
smoking initiationOpen Targets
0.04Suggestive
adolescent idiopathic scoliosisOpen Targets
0.03Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.02Suggestive
disease of peritoneumOpen Targets
0.02Suggestive
IGA glomerulonephritisOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
gastric adenocarcinomaOpen Targets
0.00Suggestive
triple-negative breast cancerOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
kidney diseaseOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
WDR4Shared pathway100%DTWD2Shared pathway100%QNG1Shared pathway100%QTRT1Shared pathway100%QTRT2Shared pathway100%DTWD1Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Brain
73%
Liver
57%
Heart
50%
Lung
37%
Bone Marrow
31%
Gene Interaction Network
Click a node to explore
ANKRD16WDR4DTWD2QNG1QTRT1QTRT2DTWD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6P6B7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.36LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.99 [0.74–1.36]
RankingsWhere ANKRD16 stands among ~20K protein-coding genes
  • #16,090of 20,598
    Most Researched13
  • #14,175of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedANKRD16
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Genome-wide association study identifies new susceptible loci of IgA nephropathy in Koreans.
PMID: 31426789
BMC Med Genomics Β· 2019
1.00
2
Breast cancer subtypes and previously established genetic risk factors: a bayesian approach.
PMID: 24177593
Cancer Epidemiol Biomarkers Prev Β· 2014
0.50