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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
APOL5
apolipoprotein L5
Chromosome 22 Β· 22q12.3
NCBI Gene: 80831Ensembl: ENSG00000128313.2HGNC: HGNC:14869UniProt: Q9BWW9
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membranelipid bindinghigh-density lipoprotein particle bindinglipid metabolic processchronic kidney diseaseimpaired renal function diseaseanemia (phenotype)anemia
✦AI Summary

APOL5 (apolipoprotein L5) is a member of the apolipoprotein L gene family located on chromosome 22. While the precise physiological role remains incompletely characterized, APOL5 is proposed to affect lipid movement in the cytoplasm and facilitate lipid binding to organelles [UniProt]. Structurally, APOL5 shares conserved cation channel-regulating residues with other APOL family members; however, it exhibits distinct functional properties 1. Unlike APOL1, APOL3, and APOL6, APOL5 is non-cytolytic and does not induce cellular swelling 1. In planar lipid bilayers, APOL5 readily inserts into membranes at neutral pH in a voltage-dependent manner to form ion-conductive channels, suggesting specialized roles in innate immunity against specific pathogens under particular cellular conditions 1. Clinically, APOL5 expression changes are associated with IgA nephropathy progression; elevated APOL5 mRNA levels in glomeruli predicted disease progression with 88% accuracy and 100% specificity, up to 21 years before clinical manifestation 2. A heterozygous deletion encompassing the entire APOL5 gene was identified in a family with congenital heart disease, though RBFOX2 deletion within this region was implicated as the primary causative variant 3. These findings indicate APOL5 participates in immune responses and kidney disease pathogenesis, though mechanistic details warrant further investigation.

Sources cited
1
APOL5 is non-cytolytic, forms ion-conductive channels with voltage-dependence at neutral pH, and has distinct membrane insertion properties compared to other APOL family members
PMID: 34252458
2
APOL5 mRNA expression in glomeruli predicts IgA nephropathy progression with high accuracy and specificity years before clinical disease progression
PMID: 38154557
3
APOL5 gene is deleted in a family with congenital heart disease alongside RBFOX2 deletion
PMID: 41159281
4
APOL5 has marginally significant association with schizophrenia in candidate gene linkage analysis
PMID: 18571626
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
chronic kidney diseaseOpen Targets
0.38Weak
impaired renal function diseaseOpen Targets
0.37Weak
anemia (phenotype)Open Targets
0.34Weak
anemiaOpen Targets
0.34Weak
secondary hyperparathyroidism of renal originOpen Targets
0.27Weak
kidney diseaseOpen Targets
0.25Weak
diabetes mellitusOpen Targets
0.12Weak
ovarian neoplasmOpen Targets
0.11Weak
HepatomegalyOpen Targets
0.04Suggestive
intestinal obstructionOpen Targets
0.04Suggestive
polycythemia veraOpen Targets
0.03Suggestive
strictureOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.03Suggestive
cancerOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
cholangiocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
APOL4Shared pathway100%APOL6Shared pathway67%APOL2Shared pathway50%APOFShared pathway50%APOL3Shared pathway40%APOLD1Shared pathway40%
Tissue Expression6 tissues
Liver
100%
Heart
69%
Brain
8%
Bone Marrow
0%
Ovary
0%
Lung
0%
Gene Interaction Network
Click a node to explore
APOL5APOL4APOL6APOL2APOFAPOL3APOLD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BWW9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.09LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.58–1.09]
RankingsWhere APOL5 stands among ~20K protein-coding genes
  • #17,266of 20,598
    Most Researched9
  • #11,150of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedAPOL5
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Glomerular transcriptomics predicts long term outcome and identifies therapeutic strategies for patients with assumed benign IgA nephropathy.
PMID: 38154557
Kidney Int Β· 2024
1.00
2
Apolipoproteins L1-6 share key cation channel-regulating residues but have different membrane insertion and ion conductance properties.
PMID: 34252458
J Biol Chem Β· 2021
0.75
3
Genome Sequencing Identifies a Heterozygous Deletion of RBFOX2 in a Family With Congenital Heart Disease: A Case Report.
PMID: 41159281
Am J Med Genet A Β· 2026
0.50
4
RASD2, MYH9, and CACNG2 genes at chromosome 22q12 associated with the subgroup of schizophrenia with non-deficit in sustained attention and executive function.
PMID: 18571626
Biol Psychiatry Β· 2008
0.25