APOL4: Apolipoprotein L4 Gene
A member of the apolipoprotein L family involved in lipid metabolism and cellular signaling
Gene Information Card
| Symbol | APOL4 |
|---|---|
| Full Name | Apolipoprotein L4 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.3 |
| NCBI Gene ID | 80832 ncbi.nlm.nih.gov/gene/80832 |
| Ensembl ID | ENSG00000100336 |
| UniProt ID | Q9BQE5 |
| OMIM ID | 607256 |
| HGNC ID | 619 |
| Aliases | APOL-IV, APOL4a, APOL4b |
Description
APOL4 (Apolipoprotein L4) is a protein-coding gene located on chromosome 22q12.3. It belongs to the apolipoprotein L family, which is involved in lipid transport, metabolism, and innate immunity. The encoded protein is a component of high-density lipoprotein (HDL) particles and may play a role in lipid binding and cellular signaling. APOL4 is expressed in various tissues, with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic kidney disease | APOL4 variants may contribute to altered lipid metabolism and renal cell stress, but specific mechanisms are not fully established. | Limited evidence from association studies; not yet validated in large cohorts. |
| Hyperlipidemia | Potential involvement in lipid transport and HDL metabolism, but direct disease link is unclear. | Inferred from gene family function; no direct clinical evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 4.1 | Low |
| Heart | 2.9 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 6.8 | Embryonic kidney cells |
| A549 | 3.5 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2239784 | missense | 0.05 (global) | p.Thr241Ala; functional impact unknown |
| rs136147 | intron variant | 0.12 (global) | Non-coding; potential regulatory effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in APOL4.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • lipid transport (GO:0006869) | • high-density lipoprotein particle (GO:0034364) |
| • protein binding (GO:0005515) | • lipid binding (GO:0008289) |
Pathways
• HDL-mediated lipid transport (Reactome: R-HSA-8963899)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
Protein Summary
The APOL4 protein (UniProt Q9BQE5) is a 340-amino acid member of the apolipoprotein L family. It contains a conserved apolipoprotein L domain and is predicted to be secreted or membrane-associated. The protein is involved in lipid binding and may modulate HDL particle function. Its exact physiological role remains under investigation, but it is thought to contribute to lipid homeostasis and innate immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOL4 Knockout HEK293 Cell Line | EDJ-KQ2211 | Human | 80832 | Details Get a Quote |
| APOL4 Knockout HeLa Cell Line | EDJ-KQ57353 | Human | 80832 | Details Get a Quote |
| APOL4 Knockout A-549 Cell Line | EDJ-KQ65857 | Human | 80832 | Details Get a Quote |
| APOL4 Knockout HCT 116 Cell Line | EDJ-KQ74283 | Human | 80832 | Details Get a Quote |
