APOL2: Apolipoprotein L2 Gene
Apolipoprotein L2: Structure, Function, and Disease Associations
Gene Information Card
| Symbol | APOL2 |
|---|---|
| Full Name | Apolipoprotein L2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 23780 ncbi.nlm.nih.gov/gene/23780 |
| Ensembl ID | ENSG00000128335 |
| UniProt ID | Q9BQE5 |
| OMIM ID | 607256 |
| HGNC ID | 619 |
| Aliases | APOL-II, APOL-2, APOL2a, APOL2b |
Description
APOL2 (Apolipoprotein L2) is a protein-coding gene located on chromosome 22q12.3. It belongs to the apolipoprotein L family, which is involved in lipid transport and metabolism. The encoded protein is a component of high-density lipoprotein (HDL) particles and may play a role in the innate immune response, particularly against trypanosomal infections. APOL2 is expressed in various tissues, including kidney, liver, and placenta. Genetic variants in APOL2 have been studied in relation to kidney disease and other disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Kidney Disease (CKD) | APOL2 variants may contribute to kidney disease risk through altered lipid metabolism or immune modulation. | PMID: 26025379 |
| Focal Segmental Glomerulosclerosis (FSGS) | APOL2 polymorphisms are associated with increased susceptibility to FSGS in African American populations. | PMID: 26025379 |
| HIV-Associated Nephropathy (HIVAN) | APOL2 risk alleles may interact with HIV infection to promote podocyte injury. | PMID: 26025379 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Placenta | 6.1 | Low |
| Lung | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| HepG2 | 9.7 | Liver carcinoma cells |
| A549 | 5.1 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2239785 | Missense (Ile244Met) | 0.15 (African) | Alters protein stability; associated with kidney disease risk |
| rs136147 | Missense (Lys166Glu) | 0.08 (African) | May affect HDL binding |
| rs73885319 | Missense (Ser342Gly) | 0.05 (African) | Rare; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC for APOL2.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative mechanisms described for APOL2 mutations.
View complete mutation data：
Gene Ontology (GO)
| • lipid transport (GO:0006869) | • high-density lipoprotein particle (GO:0034364) |
| • lipoprotein metabolic process (GO:0042157) | • extracellular region (GO:0005576) |
| • extracellular space (GO:0005615) |
Pathways
• HDL-mediated lipid transport (Reactome: R-HSA-8963896)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
Protein Summary
Apolipoprotein L2 (APOL2) is a 337-amino acid protein (UniProt Q9BQE5) that belongs to the apolipoprotein L family. It is secreted as part of HDL particles and is involved in lipid transport and innate immunity. The protein contains a pore-forming domain and may function in intracellular vesicle trafficking. APOL2 is expressed in multiple tissues, with highest levels in kidney and liver. Genetic variants in APOL2 have been associated with chronic kidney disease, particularly in individuals of African ancestry.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOL2 Knockout HEK293 Cell Line | EDJ-KQ2962 | Human | 23780 | Details Get a Quote |
| APOL2 Knockout A-549 Cell Line | EDJ-KQ24111 | Human | 23780 | Details Get a Quote |
| APOL2 Knockout HeLa Cell Line | EDJ-KQ24113 | Human | 23780 | Details Get a Quote |
| APOL2 Knockout HCT 116 Cell Line | EDJ-KQ22740 | Human | 23780 | Details Get a Quote |
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