ANGPTL4 Chromosome 19
Angiopoietin like 4
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What This Gene Does
This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
"Fibrinogen C domain containing|Angiopoietin like family"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000167772
Associated Conditions (1)
Plasma triglyceride level quantitative trait locus
Key Variants
RS116843064
association
Plasma triglyceride level quantitative trait locus, Plasma triglyceride level quantitative trait locus
Health Risk
RS587777517
association
Plasma triglyceride level quantitative trait locus, Plasma triglyceride level quantitative trait locus
Health Risk
RS1971179018
Conflicting classifications of pathogenicity
Health Risk
RS752950532
Conflicting classifications of pathogenicity
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116843064 | Health Risk | association | Plasma triglyceride level quantitative trait locus, Plasma triglyceride level quantitative trait locus |
| RS587777517 | Health Risk | association | Plasma triglyceride level quantitative trait locus, Plasma triglyceride level quantitative trait locus |
| RS1971179018 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752950532 | Health Risk | Conflicting classifications of pathogenicity | — |