NPPC (natriuretic peptide C)
- symbol:
- NPPC
- locus group:
- protein-coding gene
- location:
- 2q37.1
- gene_family:
- Endogenous ligands
- alias symbol:
- CNP
- alias name:
- None
- entrez id:
- 4880
- ensembl gene id:
- ENSG00000163273
- ucsc gene id:
- uc002vsl.3
- refseq accession:
- NM_024409
- hgnc_id:
- HGNC:7941
- approved reserved:
- 1993-11-30
NPPC基因编码的是C型钠尿肽（CNP），属于钠尿肽家族的一员，这个家族还包括ANP（心房钠尿肽）和BNP（脑钠尿肽）。钠尿肽家族的共性在于它们都是具有重要生理功能的肽类激素，主要参与调节体液平衡、血压和心血管功能。CNP主要由血管内皮细胞和中枢神经系统产生，与受体NPR-B结合后通过激活鸟苷酸环化酶产生cGMP，进而发挥生物学作用。CNP的主要作用位点包括血管、骨骼和神经系统，它在血管舒张、骨骼生长和神经保护中起关键作用。在骨骼系统中，CNP通过促进软骨细胞增殖和分化调节骨骼发育，突变或功能缺失可能导致骨骼发育异常，如肢端肥大症或矮小症。在心血管系统中，CNP具有抗纤维化和抗炎作用，其表达异常可能与高血压或动脉粥样硬化相关。NPPC基因突变可能导致CNP功能丧失或异常，进而引发骨骼或心血管疾病。过表达NPPC可能促进骨骼过度生长，导致巨人症或骨骼畸形，而降低表达则可能抑制骨骼发育，引起矮小或骨骼发育迟缓。此外，CNP还参与神经保护，其表达异常可能与神经退行性疾病如阿尔茨海默病有关。在基因家族中，钠尿肽成员虽然功能相似，但分布和作用靶点不同，ANP和BNP主要作用于心脏和肾脏，而CNP更多作用于血管和骨骼。研究NPPC基因及其产物CNP的功能有助于理解骨骼和心血管疾病的发病机制，并为相关治疗提供潜在靶点。
The protein encoded by this gene is proteolytically processed to form a secreted hormone of the natriuretic peptide family. The encoded hormone regulates the growth and differentiation of cartilaginous growth plate chondrocytes and may also be vasoactive and natriuretic. [provided by RefSeq, Sep 2011]
Gene Ontology
Subcellular localization of NPPC (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for NPPC:
| Interacting Gene | Interaction | Source/Score |
| Disease | Score | NofPmids | NofSnps | Source |
| Bone Diseases, Developmental | 0.12 | 1 | 0 | CTD_human |
| Hyperactive behavior | 0.12 | 1 | 0 | CTD_human |
| Cartilage Diseases | 0.12 | 1 | 0 | CTD_human |
| Growth Disorders | 0.12 | 1 | 0 | CTD_human |
| Aortic Valve Stenosis | 0.082995792 | 1 | 0 | BeFree_LHGDN_RGD |
| Myocardial Reperfusion Injury | 0.08 | 1 | 0 | RGD |
| Heart Diseases | 0.08 | 1 | 0 | RGD |
| Anoxia | 0.08 | 1 | 0 | RGD |
| Hypertensive disease | 0.005634266 | 2 | 0 | BeFree_GAD_LHGDN |
| Nephrotic Syndrome | 0.002995792 | 1 | 0 | BeFree_LHGDN |
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