APELA
apelin receptor early endogenous ligand
Summary
This gene encodes a peptide hormone that binds to the Apelin receptor. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic stem cells through activation of the PI3K/AKT pathway. Experiments in human and mouse cell lines point to additional roles for the encoded protein in angiogenesis and regulation of vascular tone. [provided by RefSeq, Jul 2016]
Known Variants2 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150754288 | 4:165,798,507 | T/C | — | likely benign |
| rs4541465 | 4:165,800,154 | T/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.