HILPDA
Hypoxia-Inducible Lipid Droplet-Associated Protein
Gene Information Card
| Symbol | HILPDA |
|---|---|
| Full Name | Hypoxia-Inducible Lipid Droplet-Associated Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 7q32.2 |
| NCBI Gene ID | 29923 ncbi.nlm.nih.gov/gene/29923 |
| Ensembl ID | ENSG00000135297 |
| UniProt ID | Q9Y5L2 |
| OMIM ID | 606358 |
| HGNC ID | 24916 |
| Aliases | HIG2, HIG-2, FLJ21047 |
Description
HILPDA (hypoxia-inducible lipid droplet-associated protein) is a small protein that is strongly induced by hypoxia via HIF-1α. It localizes to lipid droplets and promotes their formation, playing a role in lipid metabolism and cellular adaptation to low oxygen. HILPDA is implicated in cancer cell survival, steatosis, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | HILPDA overexpression under hypoxia promotes lipid droplet accumulation and tumor growth | PMID: 25605249 |
| Non-alcoholic fatty liver disease (NAFLD) | HILPDA mediates hypoxia-induced hepatic steatosis | PMID: 24670631 |
| Clear cell renal cell carcinoma | HILPDA is upregulated and associated with poor prognosis | PMID: 29127120 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Adipose tissue | 15.1 | High |
| Lung | 4.2 | Low |
| Heart | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.5 | Hepatocellular carcinoma cell line |
| 786-O | 22.3 | Renal cell carcinoma cell line |
| A549 | 6.8 | Lung adenocarcinoma cell line |
| MCF7 | 3.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Likely loss of start codon; functional impact unknown |
| c.85C>T (p.Arg29Trp) | missense | <0.1% | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in HILPDA.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • lipid droplet organization | • response to hypoxia |
| • cellular response to hypoxia | • lipid storage |
Pathways
• HIF-1 signaling pathway
• Lipid droplet biogenesis
Protein Summary
HILPDA is a 63-amino acid protein that localizes to lipid droplets and the endoplasmic reticulum. It is induced by hypoxia and promotes lipid droplet formation, thereby modulating lipid storage and metabolism. The protein contains a conserved hydrophobic domain essential for lipid droplet targeting.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HILPDA Knockout HEK293 Cell Line | EDJ-KQ9083 | Human | 29923 | Details Get a Quote |
| HILPDA Knockout A-549 Cell Line | EDJ-KQ34323 | Human | 29923 | Details Get a Quote |
| HILPDA Knockout HCT 116 Cell Line | EDJ-KQ35577 | Human | 29923 | Details Get a Quote |
| HILPDA Knockout HeLa Cell Line | EDJ-KQ35578 | Human | 29923 | Details Get a Quote |
