NPPC Gene (Natriuretic Peptide C)
Gene encoding C-type natriuretic peptide, a key regulator of skeletal growth and cardiovascular homeostasis
Gene Information Card
| Symbol | NPPC |
|---|---|
| Full Name | Natriuretic Peptide C |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 4880 ncbi.nlm.nih.gov/gene/4880 |
| Ensembl ID | ENSG00000113161 |
| UniProt ID | P23582 |
| OMIM ID | 600296 |
| HGNC ID | 7940 |
| Aliases | CNP, C-type natriuretic peptide |
Description
The NPPC gene encodes C-type natriuretic peptide (CNP), a member of the natriuretic peptide family. CNP is primarily expressed in the central nervous system, bone, and endothelium. It acts via the natriuretic peptide receptor B (NPR2) to stimulate cyclic GMP production, regulating skeletal growth, vascular tone, and reproductive function. Loss-of-function mutations cause acromesomelic dysplasia type Maroteaux, while gain-of-function mutations are associated with skeletal overgrowth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acromesomelic dysplasia, type Maroteaux (AMDM) | Loss-of-function mutations in NPPC reduce CNP signaling via NPR2, impairing endochondral ossification and leading to short stature and skeletal abnormalities. | OMIM #602875; PMID: 22549407 |
| Skeletal overgrowth (Tall stature) | Gain-of-function mutations (e.g., p.Arg117Gly) increase CNP activity, accelerating bone growth. | PMID: 22549407; ClinVar |
| Cardiovascular disease | CNP deficiency may contribute to hypertension and vascular remodeling due to reduced vasodilation and anti-proliferative effects. | PMID: 15591044 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 0.8 | Low |
| Brain | 4.2 | Medium |
| Heart | 1.5 | Low |
| Kidney | 0.6 | Low |
| Lung | 2.1 | Low |
| Vascular endothelium | 3.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 3.5 | Primary endothelial cells |
| SH-SY5Y (neuroblastoma) | 2.8 | Neuronal lineage |
| MG-63 (osteosarcoma) | 1.2 | Bone-derived |
| HEK293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.349C>T (p.Arg117Gly) | Missense | Rare | Gain-of-function; increased CNP activity, tall stature |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss-of-function; acromesomelic dysplasia |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Loss-of-function; premature truncation, AMDM |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that reduce or abolish CNP production, leading to acromesomelic dysplasia type Maroteaux.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg117Gly) that enhance CNP receptor binding or stability, causing skeletal overgrowth.
Dominant Negative (DN)
Not reported for NPPC.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Natriuretic peptide signaling pathway (Reactome: R-HSA-418594)
• cGMP-PKG signaling pathway (KEGG: hsa04022)
• Skeletal development and growth plate regulation
Protein Summary
C-type natriuretic peptide (CNP) is a 22-amino acid mature peptide (after proteolytic processing) that binds to natriuretic peptide receptor B (NPR2). It is synthesized as a preproprotein of 126 residues. CNP lacks the C-terminal tail typical of ANP and BNP. It plays a critical role in endochondral bone growth by stimulating cGMP production in chondrocytes. CNP also acts as a paracrine vasodilator and inhibits vascular smooth muscle proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPPC Knockout HEK293 Cell Line | EDJ-KQ1839 | Human | 4880 | Details Get a Quote |
| NPPC Knockout HeLa Cell Line | EDJ-KQ54016 | Human | 4880 | Details Get a Quote |
| NPPC Knockout A-549 Cell Line | EDJ-KQ62506 | Human | 4880 | Details Get a Quote |
| NPPC Knockout HCT 116 Cell Line | EDJ-KQ70975 | Human | 4880 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
