ANGPTL7
Angiopoietin Like 7
Gene Information Card
| Symbol | ANGPTL7 |
|---|---|
| Full Name | Angiopoietin Like 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000171862 |
| UniProt ID | O43827 |
| OMIM ID | 606595 |
| HGNC ID | 493 |
| Aliases | AngX, CDT6, dJ647M16.1 |
Description
ANGPTL7 (Angiopoietin Like 7) is a protein-coding gene that encodes a member of the angiopoietin-like family of secreted factors. The protein is involved in the regulation of angiogenesis, inflammation, and extracellular matrix remodeling. It is highly expressed in the trabecular meshwork of the eye and plays a critical role in modulating intraocular pressure. Variants in ANGPTL7 are associated with primary open-angle glaucoma and other ocular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Open-Angle Glaucoma | Variants in ANGPTL7 alter protein function affecting trabecular meshwork outflow resistance and intraocular pressure regulation. | ClinVar, OMIM |
| Glaucoma | ANGPTL7 expression is upregulated in glaucomatous trabecular meshwork cells, contributing to disease pathology. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Eye (trabecular meshwork) | High | High |
| Liver | Low | Low |
| Adipose tissue | Low | Low |
| Heart | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Trabecular meshwork cells | High | Primary cell line |
| HepG2 | Low | Hepatocellular carcinoma |
| Adipocytes | Low | Differentiated from preadipocytes |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11638978 (c.433G>A, p.Ala145Thr) | Missense | 0.5% in East Asian populations | Associated with reduced intraocular pressure and decreased glaucoma risk |
| rs11638978 (c.433G>A, p.Ala145Thr) | Missense | 0.5% in East Asian populations | Associated with reduced intraocular pressure and decreased glaucoma risk |
Mutation functional classification
Loss of Function (LOF)
The p.Ala145Thr variant is considered a loss-of-function mutation that reduces ANGPTL7 activity, leading to lower intraocular pressure.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • Angiogenesis | • Extracellular matrix organization |
| • Regulation of intraocular pressure | • Cell adhesion |
| • Signal transduction |
Pathways
• Angiopoietin-like protein signaling
• Extracellular matrix remodeling in glaucoma
Protein Summary
The ANGPTL7 protein is a secreted glycoprotein that belongs to the angiopoietin-like family. It contains a coiled-coil domain and a fibrinogen-like domain. The protein is involved in the regulation of angiogenesis and extracellular matrix composition, particularly in the trabecular meshwork of the eye. It modulates intraocular pressure by influencing the outflow of aqueous humor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANGPTL7 Knockout HEK293 Cell Line | EDJ-KQ6954 | Human | 10218 | Details Get a Quote |
| ANGPTL7 Knockout HeLa Cell Line | EDJ-KQ55349 | Human | 10218 | Details Get a Quote |
| ANGPTL7 Knockout A-549 Cell Line | EDJ-KQ63830 | Human | 10218 | Details Get a Quote |
| ANGPTL7 Knockout HCT 116 Cell Line | EDJ-KQ72291 | Human | 10218 | Details Get a Quote |
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