NPPA Gene - Natriuretic Peptide A
Key regulator of cardiovascular homeostasis and blood pressure
Gene Information Card
| Symbol | NPPA |
|---|---|
| Full Name | Natriuretic Peptide A |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.21 |
| NCBI Gene ID | 4878 ncbi.nlm.nih.gov/gene/4878 |
| Ensembl ID | ENSG00000175206 |
| UniProt ID | P01160 |
| OMIM ID | 108780 |
| HGNC ID | 7939 |
| Aliases | ANP, PND, ANF, CDD, ANF, ANP, ATFB6 |
Description
The NPPA gene encodes atrial natriuretic peptide (ANP), a cardiac hormone primarily synthesized in the atria. ANP regulates blood pressure and fluid balance by promoting natriuresis, diuresis, and vasodilation. It acts via the natriuretic peptide receptor A (NPR1) and is involved in cardiovascular homeostasis. Mutations in NPPA are associated with atrial fibrillation and hypertension.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atrial fibrillation, familial, 6 | Missense mutations (e.g., p.Arg150Gln) alter ANP processing or receptor binding, leading to altered atrial electrophysiology | ClinVar, OMIM |
| Hypertension, essential | Polymorphisms in NPPA (e.g., rs5063) affect ANP levels and natriuretic response, contributing to blood pressure variation | NCBI Gene, OMIM |
| Heart failure | Elevated ANP levels are a biomarker; rare variants may impair compensatory natriuretic function | ClinVar, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 1234.5 | High |
| Kidney | 12.3 | Low |
| Lung | 8.7 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 456.7 | High expression |
| HEK293 | 2.3 | Low expression |
| HepG2 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.456G>A (p.Arg150Gln) | Missense | Rare | Alters ANP processing; associated with atrial fibrillation |
| c.223T>C (p.Ser75Pro) | Missense | Rare | Reduced ANP activity; linked to hypertension |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of function; potential cardiac phenotype |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) abolish ANP production, impairing natriuresis and predisposing to volume overload.
Gain of Function (GOF)
Not well documented; some missense variants may increase ANP stability but are not clearly gain-of-function.
Dominant Negative (DN)
p.Arg150Gln may interfere with wild-type ANP processing, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Natriuretic peptide signaling pathway (Reactome: R-HSA-418594)
• cGMP-PKG signaling pathway (KEGG: hsa04022)
• Regulation of blood pressure (KEGG: hsa04924)
Protein Summary
Atrial natriuretic peptide (ANP) is a 28-amino acid peptide hormone cleaved from the NPPA proprotein. It binds to NPR1, activating guanylyl cyclase and increasing cGMP, leading to vasodilation, natriuresis, and inhibition of renin and aldosterone. ANP is a key biomarker in heart failure and target for therapeutic modulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPPA Knockout HEK293 Cell Line | EDJ-KQ1502 | Human | 4878 | Details Get a Quote |
| NPPA Knockout HeLa Cell Line | EDJ-KQ54014 | Human | 4878 | Details Get a Quote |
| NPPA Knockout A-549 Cell Line | EDJ-KQ62505 | Human | 4878 | Details Get a Quote |
| NPPA Knockout HCT 116 Cell Line | EDJ-KQ70973 | Human | 4878 | Details Get a Quote |
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