NPPC (natriuretic peptide C)

Gene

• Entrez ID: 4880
• Gene name: Natriuretic peptide C
• Gene symbol: NPPC
• Synonyms (NCBI Gene): CNP, CNP2
• Chromosome: 2
• Chromosome location: 2q37.1
• Summary: This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cardiac natriuretic peptides CNP-53, CNP-29 and CNP-22, which belong to the natriuretic family of peptides. The encoded p

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016398	hsa-miR-193b-3p	Microarray	20304954
MIRT527128	hsa-miR-548e-5p	PAR-CLIP	22012620
MIRT527127	hsa-miR-5680	PAR-CLIP	22012620
MIRT527126	hsa-miR-449b-3p	PAR-CLIP	22012620
MIRT527125	hsa-miR-4495	PAR-CLIP	22012620
MIRT527124	hsa-miR-203a-3p	PAR-CLIP	22012620
MIRT527123	hsa-miR-3148	PAR-CLIP	22012620
MIRT527128	hsa-miR-548e-5p	PAR-CLIP	22012620
MIRT527127	hsa-miR-5680	PAR-CLIP	22012620
MIRT527126	hsa-miR-449b-3p	PAR-CLIP	22012620
MIRT527125	hsa-miR-4495	PAR-CLIP	22012620
MIRT527124	hsa-miR-203a-3p	PAR-CLIP	22012620
MIRT527123	hsa-miR-3148	PAR-CLIP	22012620

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001549	Process	Cumulus cell differentiation	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0003418	Process	Growth plate cartilage chondrocyte differentiation	IEA
GO:0003418	Process	Growth plate cartilage chondrocyte differentiation	ISS
GO:0003419	Process	Growth plate cartilage chondrocyte proliferation	IEA
GO:0003419	Process	Growth plate cartilage chondrocyte proliferation	ISS
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	1672777, 16870210, 26980729
GO:0005179	Function	Hormone activity	IBA
GO:0005179	Function	Hormone activity	IDA	1660465
GO:0005179	Function	Hormone activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	1660465
GO:0005615	Component	Extracellular space	IEA
GO:0006182	Process	CGMP biosynthetic process	IBA
GO:0006182	Process	CGMP biosynthetic process	IDA	1672777
GO:0006182	Process	CGMP biosynthetic process	IEA
GO:0006457	Process	Protein folding	IDA	16870210
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IBA
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IDA	1672777
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0010753	Process	Positive regulation of cGMP-mediated signaling	IEA
GO:0019934	Process	CGMP-mediated signaling	IEA
GO:0030141	Component	Secretory granule	IEA
GO:0030250	Function	Guanylate cyclase activator activity	IDA	1660465
GO:0032966	Process	Negative regulation of collagen biosynthetic process	IEA
GO:0032991	Component	Protein-containing complex	IDA	16870210
GO:0035483	Process	Gastric emptying	IEA
GO:0036293	Process	Response to decreased oxygen levels	IEA
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048599	Process	Oocyte development	IEA
GO:0048660	Process	Regulation of smooth muscle cell proliferation	IEA
GO:0048678	Process	Response to axon injury	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051427	Function	Hormone receptor binding	IBA
GO:0051427	Function	Hormone receptor binding	IPI	1660465
GO:0051447	Process	Negative regulation of meiotic cell cycle	IDA	20947764
GO:0051447	Process	Negative regulation of meiotic cell cycle	IEA
GO:0061939	Process	C-di-GMP signaling	IEA
GO:0071965	Process	Multicellular organismal locomotion	IEA
GO:0090649	Process	Response to oxygen-glucose deprivation	IEA
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:0098868	Process	Bone growth	ISS
GO:1900194	Process	Negative regulation of oocyte maturation	IDA	20947764
GO:1900194	Process	Negative regulation of oocyte maturation	IEA
GO:1903537	Process	Meiotic cell cycle process involved in oocyte maturation	IEA
GO:1904588	Process	Cellular response to glycoprotein	IEA
GO:2000279	Process	Negative regulation of DNA biosynthetic process	IEA

Other IDs

• MIM: 600296
• HGNC: 7941
• e!Ensembl: ENSG00000163273

Protein

• UniProt ID: P23582
• Protein name: C-type natriuretic peptide [Cleaved into: CNP-22; CNP-29; CNP-53]
• Protein function: [CNP-22]: Hormone which plays a role in endochondral ossification through regulation of cartilaginous growth plate chondrocytes proliferation and differentiation (By similarity). May also be vasoactive and natriuretic (PubMed:1672777). Acts by s
• PDB: 1JDP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00212	ANP	96 → 126	Atrial natriuretic peptide	Family

• Tissue specificity: TISSUE SPECIFICITY: [CNP-22]: In the kidney, predominantly expressed in the distal tubular cells (at protein level). {ECO:0000269|PubMed:9794555}.
• Sequence:

  MHLSQLLACALLLTLLSLRPSEAKPGAPPKVPRTPPAEELAEPQAAGGGQKKGDKAPGGG
  GANLKGDRSRLLRDLRVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGS
  MSGLGC

• Sequence length: 126

Pathways

KEGG:

cGMP-PKG signaling pathway
Hormone signaling
Vascular smooth muscle contraction
Fluid shear stress and atherosclerosis

Reactome:

Physiological factors

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, DEVELOPMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARTILAGE DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL OBSTRUCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Achondroplasia	Associate	35710503	★☆☆☆☆ Found in Text Mining only
Acute Kidney Injury	Associate	36385130	★☆☆☆☆ Found in Text Mining only
Adamantinoma	Associate	28661490	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Associate	28661490	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Associate	37101178	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Associate	23805197, 28661490, 32282051	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart defects limb shortening	Associate	23805197	★☆☆☆☆ Found in Text Mining only
Heart Failure	Associate	37798313	★☆☆☆☆ Found in Text Mining only
HEM dysplasia	Associate	28661490	★☆☆☆☆ Found in Text Mining only
Hypertension	Associate	12452325	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Associate	21815902	★☆☆☆☆ Found in Text Mining only
Inflammation	Inhibit	22421372	★☆☆☆☆ Found in Text Mining only
Isolated Systolic Hypertension	Associate	26224401	★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Associate	23805197	★☆☆☆☆ Found in Text Mining only
Musculoskeletal Abnormalities	Associate	28661490	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	33371790	★☆☆☆☆ Found in Text Mining only
Obesity	Associate	36613584	★☆☆☆☆ Found in Text Mining only
Plaque Atherosclerotic	Associate	22421372	★☆☆☆☆ Found in Text Mining only
Short Stature Idiopathic Autosomal	Associate	33850126	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Associate	25371308	★☆☆☆☆ Found in Text Mining only