ANGPTL8 (Angiopoietin Like 8)
A key regulator of lipid metabolism and glucose homeostasis
Gene Information Card
| Symbol | ANGPTL8 |
|---|---|
| Full Name | Angiopoietin Like 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 55908 ncbi.nlm.nih.gov/gene/55908 |
| Ensembl ID | ENSG00000176124 |
| UniProt ID | Q6UXH0 |
| OMIM ID | 616223 |
| HGNC ID | 24937 |
| Aliases | TD26, RIFL, Lipasin, C19orf80, PRO1185, UNQ5805 |
Description
ANGPTL8 (Angiopoietin Like 8) is a protein-coding gene that plays a critical role in lipid metabolism, particularly in the regulation of triglyceride levels and glucose homeostasis. It is primarily expressed in the liver and adipose tissue. ANGPTL8 inhibits lipoprotein lipase (LPL) activity, thereby modulating the clearance of triglycerides from the bloodstream. It also influences insulin sensitivity and energy balance. Dysregulation of ANGPTL8 has been implicated in metabolic disorders such as type 2 diabetes, non-alcoholic fatty liver disease (NAFLD), and hypertriglyceridemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertriglyceridemia | Loss-of-function variants reduce LPL inhibition, leading to elevated triglycerides | ClinVar, OMIM |
| Type 2 Diabetes | Altered ANGPTL8 expression affects insulin sensitivity and glucose metabolism | NCBI, PubMed |
| Non-alcoholic Fatty Liver Disease (NAFLD) | Increased hepatic ANGPTL8 expression linked to lipid accumulation | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose Tissue | 8.3 | Low |
| Pancreas | 3.1 | Low |
| Small Intestine | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| 3T3-L1 | 9.8 | Adipocyte cell line |
| INS-1 | 4.5 | Pancreatic beta-cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.361C>T (p.Arg121Trp) | Missense | 0.01% | Reduced LPL inhibition; associated with hypertriglyceridemia |
| c.200A>G (p.Asn67Ser) | Missense | 0.005% | Altered protein stability; potential impact on lipid metabolism |
Mutation functional classification
Loss of Function (LOF)
p.Arg121Trp reduces LPL inhibition, leading to hypertriglyceridemia
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data:
Gene Ontology (GO)
| • Lipoprotein lipase inhibitor activity | • Lipid metabolic process |
| • Extracellular region | • Response to insulin |
Pathways
• Lipoprotein lipase regulation
• Triglyceride metabolism
• Insulin signaling
Protein Summary
ANGPTL8 is a secreted protein of 198 amino acids (UniProt Q6UXH0) that belongs to the angiopoietin-like family. It is primarily expressed in liver and adipose tissue. The protein inhibits lipoprotein lipase (LPL) activity, thereby regulating plasma triglyceride clearance. ANGPTL8 also interacts with ANGPTL3 and ANGPTL4 to modulate lipid partitioning. Its expression is regulated by nutritional status and insulin. Altered ANGPTL8 levels are associated with metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANGPTL8 Knockout Hep-G2 Cell Line | EDJ-KZ539 | Human | 55908 | Details Get a Quote |
| ANGPTL8 Knockout HEK293 Cell Line | EDJ-KQ51480 | Human | 55908 | Details Get a Quote |
| ANGPTL8 Knockout HeLa Cell Line | EDJ-KQ56652 | Human | 55908 | Details Get a Quote |
| ANGPTL8 Knockout A-549 Cell Line | EDJ-KQ65158 | Human | 55908 | Details Get a Quote |
| ANGPTL8 Knockout HCT 116 Cell Line | EDJ-KQ73594 | Human | 55908 | Details Get a Quote |
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