NPPB Gene (Natriuretic Peptide B)
Cardiac hormone gene encoding B-type natriuretic peptide (BNP), a key biomarker for heart failure
Gene Information Card
| Symbol | NPPB |
|---|---|
| Full Name | Natriuretic Peptide B |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 4879 ncbi.nlm.nih.gov/gene/4879 |
| Ensembl ID | ENSG00000120937 |
| UniProt ID | P16860 |
| OMIM ID | 600295 |
| HGNC ID | 7940 |
| Aliases | BNP, B-type natriuretic peptide, natriuretic peptide B-type |
Description
The NPPB gene encodes B-type natriuretic peptide (BNP), a cardiac hormone primarily synthesized and secreted by ventricular cardiomyocytes in response to myocardial stretch and wall tension. BNP acts as a natriuretic, diuretic, and vasodilator, playing a critical role in cardiovascular homeostasis. It is a widely used clinical biomarker for the diagnosis, prognosis, and management of heart failure. The gene is located on chromosome 1p36.22 and is often co-regulated with NPPA (atrial natriuretic peptide).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heart Failure | Increased ventricular wall stress upregulates NPPB transcription; elevated BNP levels reflect cardiac dysfunction | ClinVar, NCBI, OMIM |
| Cardiomyopathy, Dilated | NPPB expression is elevated as a compensatory response to volume overload and reduced contractility | NCBI, OMIM |
| Hypertension | BNP promotes natriuresis and vasodilation to lower blood pressure; genetic variants may influence susceptibility | NCBI, ClinVar |
| Myocardial Infarction | Acute myocardial ischemia induces NPPB expression; BNP levels correlate with infarct size and prognosis | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 124.3 | High |
| Adipose Tissue | 0.8 | Low |
| Lung | 0.5 | Low |
| Kidney | 0.3 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (primary) | 150.0 | High expression; main source of BNP |
| Cardiac fibroblasts | 2.1 | Low expression |
| HEK293 | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.456C>T (p.Arg152*) | Nonsense | Rare | Premature stop; loss of BNP function |
| c.381G>A (p.Trp127*) | Nonsense | Rare | Loss of function; associated with altered natriuretic peptide levels |
| c.231C>T (p.Arg77Cys) | Missense | Rare | Unknown effect; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg152*, p.Trp127*) lead to truncated, non-functional BNP peptide, impairing natriuretic and vasodilatory activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NPPB.
Dominant Negative (DN)
No dominant-negative mutations described for NPPB.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity (GO:0005179) | • extracellular region (GO:0005576) |
| • extracellular space (GO:0005615) | • transport (GO:0006810) |
| • signal transduction (GO:0007165) | • excretion (GO:0007588) |
| • blood pressure regulation (GO:0008217) | • natriuresis (GO:0030010) |
| • regulation of renal sodium excretion (GO:0035815) | • vasodilation (GO:0042310) |
Pathways
• Natriuretic peptide signaling pathway (Reactome: R-HSA-418594)
• Regulation of water balance by renal aquaporins (Reactome: R-HSA-432047)
• cGMP-PKG signaling pathway (KEGG: hsa04022)
Protein Summary
The NPPB gene product, B-type natriuretic peptide (BNP), is synthesized as a 134-amino acid preprohormone. It is cleaved to a 108-amino acid proBNP, which is further processed into the biologically active 32-amino acid BNP (BNP-32) and the inactive N-terminal fragment (NT-proBNP). BNP-32 binds to natriuretic peptide receptor A (NPR-A), activating guanylyl cyclase and increasing intracellular cGMP, leading to natriuresis, diuresis, and vasodilation. BNP and NT-proBNP are measured clinically as biomarkers for heart failure diagnosis and prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPPB Knockout HEK293 Cell Line | EDJ-KQ1152 | Human | 4879 | Details Get a Quote |
| NPPB Knockout A-549 Cell Line | EDJ-KQ21692 | Human | 4879 | Details Get a Quote |
| NPPB Knockout HeLa Cell Line | EDJ-KQ54015 | Human | 4879 | Details Get a Quote |
| NPPB Knockout HCT 116 Cell Line | EDJ-KQ70974 | Human | 4879 | Details Get a Quote |
