FABP4 (Fatty Acid Binding Protein 4) Gene
Adipocyte FABP4: Lipid Chaperone, Metabolic Regulator, and Therapeutic Target
Gene Information Card
| Symbol | FABP4 |
|---|---|
| Full Name | Fatty acid binding protein 4, adipocyte |
| Gene Type | protein coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 2167 ncbi.nlm.nih.gov/gene/2167 |
| Ensembl ID | ENSG00000170323 |
| UniProt ID | P15090 |
| OMIM ID | 600434 |
| HGNC ID | 3559 |
| Aliases | A-FABP, AFABP, aP2, ALBP, GP2 |
Description
FABP4 (fatty acid binding protein 4) encodes a cytoplasmic fatty acid binding protein predominantly expressed in adipocytes and macrophages. It functions as a lipid chaperone, facilitating the intracellular transport and metabolism of fatty acids, and plays a role in lipid homeostasis, insulin sensitivity, and inflammatory responses. FABP4 is implicated in metabolic disorders such as obesity, type 2 diabetes, and atherosclerosis, and is a potential therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | FABP4 expression is upregulated in adipose tissue; it modulates lipolysis and fatty acid trafficking, contributing to adipocyte hypertrophy and metabolic dysregulation. | Expression studies in human adipose tissue; mouse knockout models show protection from diet-induced obesity (NCBI Gene, OMIM). |
| Type 2 Diabetes | FABP4 influences insulin sensitivity by regulating fatty acid signaling and inflammation in adipocytes and macrophages; elevated serum FABP4 correlates with insulin resistance. | Clinical association studies; functional studies in cell models (UniProt, OMIM). |
| Atherosclerosis | In macrophages, FABP4 promotes cholesterol ester accumulation and foam cell formation, accelerating atherosclerotic plaque development. | Mouse knockout studies and human atherosclerotic tissue analysis (NCBI Gene, OMIM). |
| Metabolic Syndrome | FABP4 integrates lipid metabolism and inflammation, contributing to the systemic metabolic disturbances characteristic of metabolic syndrome. | Epidemiological studies linking FABP4 levels to metabolic syndrome components (ClinVar, OMIM). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | High (e.g., 1000+ nTPM) | Highest expression in subcutaneous and visceral fat |
| Macrophages | Moderate (e.g., 100-500 nTPM) | Expression in tissue-resident macrophages |
| Liver | Low (e.g., <10 nTPM) | Minimal expression |
| Heart | Low (e.g., <10 nTPM) | Minimal expression |
| Skeletal muscle | Low (e.g., <10 nTPM) | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| 3T3-L1 (adipocyte) | High | Differentiated adipocytes show high FABP4 expression |
| THP-1 (monocyte/macrophage) | Moderate | Expression increases upon macrophage differentiation |
| HepG2 (hepatocyte) | Low | Minimal expression |
| HeLa (cervical cancer) | Low | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1054135 (T87M) | Missense | Population frequency ~1-5% | Reduced fatty acid binding affinity; associated with altered lipid metabolism and metabolic traits |
| rs16909226 (intronic) | Intronic variant | Population frequency ~10-20% | Associated with changes in FABP4 expression; linked to obesity risk in some studies |
| rs11544786 (promoter) | Promoter variant | Population frequency ~5-10% | May affect transcriptional regulation; potential impact on metabolic phenotypes |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in FABP4 are rare; they may impair fatty acid binding and transport, potentially leading to altered lipid metabolism and insulin sensitivity. However, no clear pathogenic loss-of-function variants have been established in human disease.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented; overexpression of FABP4 is associated with metabolic dysfunction, but specific activating mutations have not been characterized.
Dominant Negative (DN)
No dominant-negative mutations have been reported for FABP4.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid binding | • lipid binding |
| • transporter activity | • cytoplasm |
| • cytosol | • nucleus |
| • lipid metabolic process | • fatty acid transport |
| • response to insulin | • inflammatory response |
Pathways
• PPAR signaling pathway
• Fatty acid metabolism
• Adipocytokine signaling pathway
• Regulation of lipolysis in adipocytes
Protein Summary
FABP4 is a 132-amino acid protein (15 kDa) that belongs to the fatty acid binding protein family. It adopts a beta-barrel structure that binds long-chain fatty acids with high affinity. FABP4 is predominantly expressed in adipocytes and macrophages, where it facilitates intracellular fatty acid transport, modulates lipid metabolism, and influences gene expression via nuclear receptor interactions. It is secreted into the circulation and acts as an adipokine, linking obesity to metabolic and cardiovascular diseases. FABP4 is a promising biomarker and therapeutic target for metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Fabp4 Knockout EO771 Cell Line | EDJ-KZ228 | Mouse | 11770 | Details Get a Quote |
| Fabp4 Knockout NIH 3T3 Cell Line | EDJ-KZ229 | Mouse | 11770 | Details Get a Quote |
| FABP4 Knockout HEK293 Cell Line | EDJ-KQ50264 | Human | 2167 | Details Get a Quote |
| FABP4 Knockout HeLa Cell Line | EDJ-KQ53195 | Human | 2167 | Details Get a Quote |
| FABP4 Knockout A-549 Cell Line | EDJ-KQ61673 | Human | 2167 | Details Get a Quote |
| FABP4 Knockout HCT 116 Cell Line | EDJ-KQ70156 | Human | 2167 | Details Get a Quote |
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