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

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 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
Displaying Records 1 To 5 Of 5 Records
Contact Us
*
*
*
*
How did you hear about us: