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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.
BPIFA3
BPI fold containing family A member 3
Chromosome 20 Β· 20q11.21
NCBI Gene: 128861Ensembl: ENSG00000131059.12HGNC: HGNC:16204UniProt: Q9BQP9
9PubMed Papers
8Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
lipid bindingextracellular regionmetabolic syndromebreast carcinomacarcinoma of liver and intrahepatic biliary tractneoplasm
✦AI Summary

Based on limited published evidence, BPIFA3 is a BPI fold-containing protein located on chromosome 20.21. Genome-wide association studies have identified BPIFA3 as associated with skin aging phenotypes, with a combined odds ratio of 1.859 [95% CI: 1.567-2.151] across multiple studies 1. Additionally, BPIFA3 was identified as a top candidate gene in a genome-wide association study of otitis media susceptibility in childhood 2, suggesting potential roles in immune or inflammatory responses. However, functional characterization remains limited.

Sources cited
1
BPIFA3 associated with skin aging phenotypes with OR 1.859 [1.567-2.151] in meta-analysis of GWAS and candidate gene studies
PMID: 39923055
2
BPIFA3 identified as top gene-based hit (P=2Γ—10⁻⁡) in GWAS of otitis media susceptibility in childhood
PMID: 23133572
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜8
metabolic syndromeOpen Targets
0.07Suggestive
breast carcinomaOpen Targets
0.04Suggestive
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
preeclampsiaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
BPIFB4Protein interaction76%BPIFB1Protein interaction75%BPIFB6Protein interaction75%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
0%
Ovary
0%
Lung
0%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
BPIFA3BPIFB4BPIFB1BPIFB6
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9BQP9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.51LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.13 [0.86–1.51]
RankingsWhere BPIFA3 stands among ~20K protein-coding genes
  • #17,273of 20,598
    Most Researched9
  • #15,227of 17,882
    Most Constrained (LOEUF)1.51
Genes detectedBPIFA3
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Genetic determinants of skin ageing: a systematic review and meta-analysis of genome-wide association studies and candidate genes.
PMID: 39923055
J Physiol Anthropol Β· 2025
1.00
2
Genome-wide association study to identify the genetic determinants of otitis media susceptibility in childhood.
PMID: 23133572
PLoS One Β· 2012
0.50