APLN (Apelin) Gene
A comprehensive biomedical resource on the APLN gene, encoding the apelin peptide ligand involved in cardiovascular, metabolic, and neuroendocrine regulation.
Gene Information Card
| Symbol | APLN |
|---|---|
| Full Name | Apelin |
| Gene Type | protein-coding |
| Chromosomal Location | Xq26.1 |
| NCBI Gene ID | 348 ncbi.nlm.nih.gov/gene/348 |
| Ensembl ID | ENSG00000171388 |
| UniProt ID | Q9ULZ1 |
| OMIM ID | 300450 |
| HGNC ID | 603 |
| Aliases | APEL, apelin, XNPEP2 |
Description
APLN (apelin) is a protein-coding gene located on chromosome Xq26.1. It encodes a preproprotein that is cleaved to produce the bioactive peptide apelin, which acts as an endogenous ligand for the APJ receptor (APLNR). Apelin is involved in diverse physiological processes including cardiovascular development, angiogenesis, fluid homeostasis, and energy metabolism. The gene is expressed in various tissues, with highest levels in the heart, lung, and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | Apelin signaling via APJ receptor regulates cardiac contractility, vasodilation, and angiogenesis; dysregulation contributes to heart failure and hypertension. | ClinVar, OMIM |
| Metabolic syndrome | Apelin modulates insulin sensitivity and adipokine secretion; altered expression linked to obesity and type 2 diabetes. | NCBI, OMIM |
| Cancer (e.g., breast, lung) | Apelin promotes tumor angiogenesis and cell proliferation through APJ receptor activation; overexpression observed in several malignancies. | COSMIC, NCBI |
| Preeclampsia | Reduced placental apelin expression may impair angiogenesis and contribute to hypertensive disorders of pregnancy. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Lung | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Kidney | 4.7 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 15.2 | Endothelial cells; high expression |
| HEK293 | 7.8 | Embryonic kidney; moderate expression |
| MCF7 | 4.3 | Breast cancer; low expression |
| A549 | 3.1 | Lung cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.77C>T (p.Pro26Leu) | Missense | <0.01% | Alters peptide processing; potential loss of function |
| c.148G>A (p.Val50Met) | Missense | <0.01% | Unknown; rare variant |
| c.199_200insA | Frameshift | <0.01% | Predicted loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense variants that disrupt peptide cleavage or receptor binding are classified as loss-of-function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in APLN.
Dominant Negative (DN)
No evidence of dominant-negative effects for APLN mutations.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor binding | • hormone activity |
| • receptor ligand activity | • extracellular space |
| • angiogenesis | • positive regulation of blood pressure |
| • positive regulation of cell proliferation | • positive regulation of endothelial cell migration |
Pathways
• Apelin signaling pathway
• GPCR downstream signaling
• Cardiac progenitor differentiation
• VEGF signaling in angiogenesis
Protein Summary
The apelin protein (UniProt Q9ULZ1) is synthesized as a 77-amino acid preproprotein that undergoes proteolytic cleavage to generate active peptides, primarily apelin-13, apelin-17, and apelin-36. These peptides bind to the APJ receptor (APLNR), a G protein-coupled receptor, to activate downstream signaling cascades including MAPK, PI3K/Akt, and endothelial nitric oxide synthase (eNOS). Apelin is critical for cardiovascular development, fluid balance, and metabolic regulation. Its expression is regulated by hypoxia and nutritional status.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APLN Knockout HEK293 Cell Line | EDJ-KQ1419 | Human | 8862 | Details Get a Quote |
| APLNR Knockout HEK293 Cell Line | EDJ-KQ1420 | Human | 187 | Details Get a Quote |
| HAPLN3 Knockout HEK293 Cell Line | EDJ-KQ3673 | Human | 145864 | Details Get a Quote |
| HAPLN1 Knockout HEK293 Cell Line | EDJ-KQ4346 | Human | 1404 | Details Get a Quote |
| PAPLN Knockout HEK293 Cell Line | EDJ-KQ10538 | Human | 89932 | Details Get a Quote |
| HAPLN4 Knockout HEK293 Cell Line | EDJ-KQ11714 | Human | 404037 | Details Get a Quote |
| HAPLN2 Knockout HEK293 Cell Line | EDJ-KQ13722 | Human | 60484 | Details Get a Quote |
| PAPLN Knockout HCT 116 Cell Line | EDJ-KQ37972 | Human | 89932 | Details Get a Quote |
| PAPLN Knockout HeLa Cell Line | EDJ-KQ37973 | Human | 89932 | Details Get a Quote |
| APLN Knockout HeLa Cell Line | EDJ-KQ19621 | Human | 8862 | Details Get a Quote |
| HAPLN3 Knockout A-549 Cell Line | EDJ-KQ25657 | Human | 145864 | Details Get a Quote |
| HAPLN3 Knockout HCT 116 Cell Line | EDJ-KQ25658 | Human | 145864 | Details Get a Quote |
| HAPLN3 Knockout HeLa Cell Line | EDJ-KQ25659 | Human | 145864 | Details Get a Quote |
| PAPLN Knockout A-549 Cell Line | EDJ-KQ36675 | Human | 89932 | Details Get a Quote |
| APLNR Knockout HeLa Cell Line | EDJ-KQ52582 | Human | 187 | Details Get a Quote |
Displaying Records 1 To 15 Of 28 Records
