APLN
apelin
Summary
This gene encodes a peptide that functions as an endogenous ligand for the G-protein coupled apelin receptor. The encoded preproprotein is proteolytically processed into biologically active C-terminal peptide fragments. These peptide fragments activate different tissue specific signaling pathways that regulate diverse biological functions including fluid homeostasis, cardiovascular function and insulin secretion. This protein also functions as a coreceptor for the human immunodeficiency virus 1. [provided by RefSeq, Feb 2016]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3115757 | X:128,782,412 | C/G | intron variant | benign |
| rs5977126 | X:128,782,536 | G/A | — | benign |
| rs777914054 | X:128,782,635 | G/A | — | uncertain significance |
| rs377120516 | X:128,782,661 | C/T | — | uncertain significance |
| rs2522002749 | X:128,782,748 | T/C | — | uncertain significance |
| rs2235306 | X:128,784,098 | T/C | intron variant | — |
| rs5977130 | X:128,788,390 | T/C | — | benign |
| rs757960178 | X:128,788,561 | G/T | — | uncertain significance |
| rs2281069 | X:128,788,714 | A/G | — | benign |
| rs181301686 | X:128,788,921 | A/G | — | benign |
| rs3761581 | X:128,789,721 | A/C | regulatory region variant | — |
| rs56204867 | X:128,790,467 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.