PPARD
Peroxisome Proliferator-Activated Receptor Delta
Gene Information Card
| Symbol | PPARD |
|---|---|
| Full Name | Peroxisome Proliferator-Activated Receptor Delta |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 5467 ncbi.nlm.nih.gov/gene/5467 |
| Ensembl ID | ENSG00000112033 |
| UniProt ID | Q03181 |
| OMIM ID | 600409 |
| HGNC ID | 9235 |
| Aliases | PPARB, NR1C2, NUC1, FAAR |
Description
PPARD encodes peroxisome proliferator-activated receptor delta, a nuclear receptor that regulates lipid metabolism, glucose homeostasis, inflammation, and cell proliferation. It binds to peroxisome proliferator response elements (PPREs) and modulates transcription of target genes involved in fatty acid oxidation, energy expenditure, and insulin sensitivity. PPARD is implicated in metabolic disorders, cardiovascular disease, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic Syndrome | PPARD activation improves insulin sensitivity and lipid metabolism; variants may alter risk | PMID: 19037247 |
| Colorectal Cancer | PPARD overexpression promotes cell proliferation and tumor growth via β-catenin/TCF signaling | PMID: 21575862 |
| Cardiovascular Disease | PPARD regulates lipid metabolism and inflammation in vascular endothelium; polymorphisms associated with dyslipidemia | PMID: 20628086 |
| Obesity | PPARD variants influence body mass index and energy expenditure | PMID: 16959974 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.8 | Low |
| Skeletal Muscle | 12.3 | Medium |
| Heart | 15.1 | Medium |
| Adipose Tissue | 8.2 | Low |
| Colon | 20.4 | High |
| Small Intestine | 18.7 | High |
| Kidney | 6.5 | Low |
| Brain | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.5 | Hepatocellular carcinoma cell line |
| Caco-2 | 22.1 | Colorectal adenocarcinoma cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| A549 | 9.3 | Lung carcinoma cell line |
| HT-29 | 19.6 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.280C>T (p.Arg94Trp) | Missense | <0.01% | Altered ligand binding; reduced transcriptional activity |
| c.494A>G (p.Asn165Ser) | Missense | <0.01% | Unknown functional effect |
| c.842C>T (p.Pro281Leu) | Missense | <0.01% | Impaired heterodimerization with RXR |
| c.1165G>A (p.Val389Met) | Missense | <0.01% | Reduced PPRE binding |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Arg94Trp and p.Pro281Leu reduce ligand binding or heterodimerization, impairing transcriptional activation.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in PPARD.
Dominant Negative (DN)
No dominant-negative mutations described for PPARD.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PPAR signaling pathway (KEGG: hsa03320)
• Adipocytokine signaling pathway (KEGG: hsa04920)
• AMPK signaling pathway (KEGG: hsa04152)
• Insulin signaling pathway (KEGG: hsa04910)
• Fatty acid metabolism (Reactome: R-HSA-8978868)
Protein Summary
PPARD is a 441-amino acid nuclear receptor with a conserved DNA-binding domain and ligand-binding domain. It forms heterodimers with retinoid X receptors (RXRs) and binds to PPREs in target gene promoters. PPARD regulates genes involved in fatty acid oxidation, energy uncoupling, and glucose transport. It is activated by endogenous fatty acids and synthetic ligands such as GW501516. PPARD plays roles in metabolic adaptation, wound healing, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Ppard Knockout NIT-1 Cell Line | EDJ-KQ60 | Mouse | 19015 | Details Get a Quote |
| PPARD Knockout HEK293 Cell Line | EDJ-KQ115 | Human | 5467 | Details Get a Quote |
| PPARD Knockout A-549 Cell Line | EDJ-KQ18475 | Human | 5467 | Details Get a Quote |
| PPARD Knockout HCT 116 Cell Line | EDJ-KQ18476 | Human | 5467 | Details Get a Quote |
| PPARD Knockout HeLa Cell Line | EDJ-KQ18477 | Human | 5467 | Details Get a Quote |
