APLNR (Apelin Receptor) Gene
G protein-coupled receptor for apelin and elabela/toddler; roles in cardiovascular development, fluid homeostasis, and angiogenesis
Gene Information Card
| Symbol | APLNR |
|---|---|
| Full Name | Apelin receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 187 ncbi.nlm.nih.gov/gene/187 |
| Ensembl ID | ENSG00000134817 |
| UniProt ID | P35414 |
| OMIM ID | 600052 |
| HGNC ID | 339 |
| Aliases | APJ, AGTRL1, APJ receptor, angiotensin receptor-like 1 |
Description
The APLNR gene encodes the apelin receptor, a class A G protein-coupled receptor (GPCR) that binds apelin and elabela/toddler peptides. It is involved in cardiovascular development, fluid homeostasis, angiogenesis, and energy metabolism. The receptor is expressed in various tissues including heart, blood vessels, brain, and kidney. Dysregulation of APLNR signaling is implicated in cardiovascular diseases, cancer, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | APLNR signaling regulates cardiac contractility, blood pressure, and fluid balance; loss of function contributes to heart failure and hypertension | ClinVar, OMIM |
| Cancer (e.g., glioblastoma, breast cancer) | APLNR overexpression promotes tumor angiogenesis and metastasis via apelin signaling | COSMIC, NCBI PubMed |
| Lymphedema | Mutations in APLNR disrupt lymphatic vascular development | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Brain | 6.7 | Low |
| Liver | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 18.4 | High expression in vascular endothelium |
| HEK293 | 2.1 | Low endogenous expression |
| MCF7 (breast cancer) | 9.8 | Moderate expression |
| U87MG (glioblastoma) | 22.5 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | Rare | Loss of receptor function; associated with lymphedema |
| c.100G>A (p.Gly34Ser) | Missense | Rare | Reduced ligand binding; potential cardiovascular phenotype |
| c.742G>A (p.Gly248Arg) | Missense | Somatic (COSMIC) | Gain-of-function in cancer |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg113Trp) impair receptor signaling and are linked to lymphedema and cardiovascular defects.
Gain of Function (GOF)
Somatic mutations (e.g., p.Gly248Arg) enhance downstream signaling and are associated with tumor progression.
Dominant Negative (DN)
No dominant-negative mutations have been reported for APLNR.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • apelin receptor activity |
| • angiogenesis | • positive regulation of blood pressure |
| • positive regulation of cell proliferation | • positive regulation of endothelial cell migration |
| • positive regulation of vasodilation | • positive regulation of cardiac muscle contraction |
Pathways
• Apelin signaling pathway
• GPCR downstream signaling
• PI3K-Akt signaling pathway
• MAPK signaling pathway
• VEGF signaling pathway
Protein Summary
The apelin receptor (APLNR) is a 380-amino acid GPCR with seven transmembrane domains. It is activated by apelin and elabela peptides, leading to G protein-dependent and β-arrestin-mediated signaling. The receptor is critical for cardiovascular development, fluid homeostasis, and angiogenesis. It is a therapeutic target for heart failure, hypertension, and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APLNR Knockout HEK293 Cell Line | EDJ-KQ1420 | Human | 187 | Details Get a Quote |
| APLNR Knockout HeLa Cell Line | EDJ-KQ52582 | Human | 187 | Details Get a Quote |
| APLNR Knockout A-549 Cell Line | EDJ-KQ61060 | Human | 187 | Details Get a Quote |
| APLNR Knockout HCT 116 Cell Line | EDJ-KQ69542 | Human | 187 | Details Get a Quote |
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