APOL2

Chr 22AD

apolipoprotein L2

Also known as: APOL-II

NCBI Gene: 23780ENSG00000128335UniProt: Q9BQE5

This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

{Schizophrenia}MIM #181500
AD
121
ClinVar variants
0
Pathogenic / LP
0.01
pLI score
0
Active trials
Clinical Summary— APOL2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
121 total variants — no pathogenic classifications of 121 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.83LOEUF
pLI 0.007
Z-score 0.11
OE 0.94 (0.41–1.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.73Z-score
OE missense 1.15 (1.03–1.29)
217 obs / 188.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.94 (0.41–1.83)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.15 (1.03–1.29)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.19
0≤1.21.6
LoF obs/exp: 3 / 3.2Missense obs/exp: 217 / 188.8Syn Z: -1.25

ClinVar Variant Classifications

121 submitted variants in ClinVar

ClinVar

Classification Summary

Protein Context — Lollipop Plot

APOL2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
APOLIPOPROTEIN L2; APOL2
MIM #607252 · *

{Schizophrenia}

MIM #181500

Disorder with associated gene

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
A natural small molecule alleviates liver fibrosis by targeting apolipoprotein L2.
Gan L et al.·Nat Chem Biol
2025
APOL2 Stabilizes Ku80 to Confer NHEJ-Mediated Radioresistance in Gastric Cancer.
Zu D et al.·Adv Sci (Weinh)
2025
APOL1 Kidney Risk Variants and Proteomics.
Chen TK et al.·Clin J Am Soc Nephrol
2022
Epigenetic aging is accelerated in alcohol use disorder and regulated by genetic variation in APOL2.
Luo A et al.·Neuropsychopharmacology
2020
Copy Number Variation at the APOL1 Locus.
Ruchi R et al.·PLoS One
2015
Housekeeping gene dysregulation in psoriasis: integrative multi-cohort and single-cell analysis reveals keratinocyte-centric molecular mechanisms and diagnostic biomarkers.
Tang H et al.·Front Immunol
2025Cohort
A circulating antibody panel for pretransplant prediction of FSGS recurrence after kidney transplantation.
Delville M et al.·Sci Transl Med
2014
Apolipoprotein L1-Specific Antibodies Detect Endogenous APOL1 inside the Endoplasmic Reticulum and on the Plasma Membrane of Podocytes.
Scales SJ et al.·J Am Soc Nephrol
2020
Lichen planopilaris and pseudopelade of Brocq involve distinct disease associated gene expression patterns by microarray.
Yu M et al.·J Dermatol Sci
2010
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.
Zhang R et al.·PLoS One
2020Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools