ANGPTL5 Gene
Angiopoietin Like 5
Gene Information Card
| Symbol | ANGPTL5 |
|---|---|
| Full Name | Angiopoietin Like 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.3 |
| NCBI Gene ID | 253935 ncbi.nlm.nih.gov/gene/253935 |
| Ensembl ID | ENSG00000187134 |
| UniProt ID | Q6UXH0 |
| OMIM ID | 607674 |
| HGNC ID | 24088 |
| Aliases | ANG-5, ANGPTL5, dJ595C18.2 |
Description
ANGPTL5 (Angiopoietin Like 5) is a protein-coding gene that encodes a member of the angiopoietin-like family of secreted factors. The encoded protein is involved in lipid metabolism, particularly in the regulation of triglyceride levels, and may play a role in angiogenesis and hematopoietic stem cell activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertriglyceridemia | Loss-of-function variants in ANGPTL5 are associated with reduced plasma triglyceride levels, suggesting a role in triglyceride metabolism. | ClinVar, OMIM |
| Coronary artery disease | Polymorphisms in ANGPTL5 have been linked to altered lipid profiles and cardiovascular risk. | NCBI Gene, GWAS studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.0 | Not detected |
| Adipose tissue | 0.0 | Not detected |
| Small intestine | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Skeletal muscle | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.0 | Not expressed |
| 3T3-L1 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.433C>T (p.Arg145*) | Nonsense | Rare | Loss of function; associated with lower triglycerides |
| c.100G>A (p.Gly34Arg) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the protein are predicted to cause loss of function, leading to reduced triglyceride levels.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ANGPTL5.
Dominant Negative (DN)
No dominant-negative mutations have been described for ANGPTL5.
View complete mutation data：
Gene Ontology (GO)
| • extracellular space (GO:0005615) | • cholesterol metabolic process (GO:0008203) |
| • negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748) | • lipoprotein particle clearance (GO:0030228) |
Pathways
• Angiopoietin-like protein family
• Lipoprotein metabolism
Protein Summary
ANGPTL5 is a secreted protein of the angiopoietin-like family. It is primarily expressed in the liver and adipose tissue, where it modulates lipid metabolism by inhibiting lipoprotein lipase activity, thereby affecting plasma triglyceride levels. The protein contains a coiled-coil domain and a fibrinogen-like domain, typical of angiopoietin-like factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANGPTL5 Knockout HEK293 Cell Line | EDJ-KQ11748 | Human | 253935 | Details Get a Quote |
| ANGPTL5 Knockout HeLa Cell Line | EDJ-KQ59245 | Human | 253935 | Details Get a Quote |
| ANGPTL5 Knockout A-549 Cell Line | EDJ-KQ67713 | Human | 253935 | Details Get a Quote |
| ANGPTL5 Knockout HCT 116 Cell Line | EDJ-KQ76095 | Human | 253935 | Details Get a Quote |
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