ANGPTL4
angiopoietin like 4
Summary
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]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs189453683 | 19:8,428,050 | G/T | — | — |
| rs1025526193 | 19:8,429,230 | G/A | — | uncertain significance |
| rs2512701362 | 19:8,429,294 | C/A | — | uncertain significance |
| rs116843064 | 19:8,429,323 | G/A | missense variant | association |
| rs780654441 | 19:8,429,325 | G/A | — | likely benign |
| rs139991923 | 19:8,429,391 | C/T | — | benign |
| rs538554190 | 19:8,429,406 | C/G | — | likely benign |
| rs369670581 | 19:8,429,416 | C/T | — | uncertain significance |
| rs774532632 | 19:8,430,917 | A/G | — | uncertain significance |
| rs372330978 | 19:8,431,153 | C/T | — | uncertain significance |
| rs533599788 | 19:8,431,177 | C/T | — | uncertain significance |
| rs752602300 | 19:8,431,194 | C/T | — | uncertain significance |
| rs2278236 | 19:8,431,581 | G/C | — | — |
| rs7255436 | 19:8,433,196 | C/A | intron variant | — |
| rs200977507 | 19:8,434,097 | C/T | — | benign |
| rs34600793 | 19:8,434,100 | C/T | — | benign |
| rs2512712593 | 19:8,434,103 | G/T | — | uncertain significance |
| rs1006366989 | 19:8,434,184 | C/T | — | uncertain significance |
| rs35571542 | 19:8,434,185 | G/A | — | benign |
| rs587777517 | 19:8,434,204 | A/T | — | association |
| rs10410586 | 19:8,435,019 | A/C | — | — |
| rs768374046 | 19:8,435,987 | T/G | — | uncertain significance |
| rs761889493 | 19:8,435,993 | C/T | — | uncertain significance |
| rs752209196 | 19:8,436,121 | C/G | — | likely benign |
| rs1044250 | 19:8,436,164 | C/T | missense variant | — |
| rs774924877 | 19:8,436,182 | G/A | — | uncertain significance |
| rs35061979 | 19:8,436,200 | G/A | — | benign |
| rs150000287 | 19:8,436,238 | G/A | — | uncertain significance |
| rs775667046 | 19:8,436,244 | C/A | — | uncertain significance |
| rs2512717459 | 19:8,436,247 | G/A | — | uncertain significance |
| rs751249880 | 19:8,436,286 | C/T | — | uncertain significance |
| rs10404615 | 19:8,436,288 | C/T | — | likely benign |
| rs757379628 | 19:8,436,295 | G/A | — | likely benign |
| rs747326940 | 19:8,436,316 | G/A | — | uncertain significance |
| rs200918932 | 19:8,436,337 | G/A | — | uncertain significance |
| rs140744493 | 19:8,436,373 | C/T | missense variant | — |
| rs555274215 | 19:8,436,391 | G/A | — | uncertain significance |
| rs3183953 | 19:8,438,629 | C/T | — | benign |
| rs11672433 | 19:8,438,716 | G/A | synonymous variant | benign |
| rs1971179018 | 19:8,438,750 | G/A | — | conflicting classifications of pathogenicity |
| rs752950532 | 19:8,438,751 | C/G | — | conflicting classifications of pathogenicity |
| rs61512436 | 19:8,438,778 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.