NPPC natriuretic peptide C [Homo sapiens (human)] - Gene

Summary

Official Symbol: NPPCprovided by HGNC
Official Full Name: natriuretic peptide Cprovided by HGNC
Primary source: HGNC:HGNC:7941
See related: Ensembl:ENSG00000163273 MIM:600296; AllianceGenome:HGNC:7941
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CNP; CNP2
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 peptides exhibit vasorelaxation activity in laboratory animals and elevated levels of CNP-22 have been observed in the plasma of chronic heart failure patients. [provided by RefSeq, Oct 2015]
Annotation information: Note: CNP (Gene ID: 1267) and NPPC (Gene ID: 4880) share the CNP symbol/alias in common. CNP is a widely used alternative name for C-type natriuretic peptide (NPPC), which can be confused with the official symbol for 2',3'-cyclic-nucleotide 3'-phosphodiesterase (CNP). [06 Jul 2018]
Expression: Biased expression in prostate (RPKM 1.1), esophagus (RPKM 0.4) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (231921809..231926396, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (232408446..232413033, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (232786519..232791106, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel variant of NPPC causes abnormal post-translational cleavage: A candidate gene for premature ovarian insufficiency.
Title: A novel variant of NPPC causes abnormal post-translational cleavage: A candidate gene for premature ovarian insufficiency.
C-type natriuretic peptide (CNP)/guanylate cyclase B (GC-B) system and endothelin-1(ET-1)/ET receptor A and B system in human vasculature.
Title: C-type natriuretic peptide (CNP)/guanylate cyclase B (GC-B) system and endothelin-1(ET-1)/ET receptor A and B system in human vasculature.
C-type natriuretic peptide plasma levels and whole blood mRNA expression show different trends in adolescents with different degree of endothelial dysfunction.
Title: C-type natriuretic peptide plasma levels and whole blood mRNA expression show different trends in adolescents with different degree of endothelial dysfunction.
CNP, via guanylyl cyclase-B/cyclic GMP signaling, stabilizes resident perivascular mast cells at baseline and prevents their excessive activation under pathological conditions.
Title: Stabilization of Perivascular Mast Cells by Endothelial CNP (C-Type Natriuretic Peptide).
Data provide evidence that the CNP precursor gene NPPC was 50% less expressed in luteinized granulosa cells from follicles containing mature oocytes than in follicles containing immature oocytes. Further results showed that CNP signaling is downregulated in human ovarian follicles containing mature oocytes.
Title: C-type natriuretic peptide signaling in human follicular environment and its relation with oocyte maturation.
Urine NT-proCNP can serve as a biomarker for chronic kidney disease in diabetes.
Title: Urinary Amino-Terminal Pro-C-Type Natriuretic Peptide: A Novel Marker of Chronic Kidney Disease in Diabetes.
C-type natriuretic peptide may dampen FGF-23 expression via MAPK signaling pathway in mesangial cells
Title: C-Type Natriuretic Peptide Dampens Fibroblast Growth Factor-23 Expression Through MAPK Signaling Pathway in Human Mesangial Cells.
receptor signaling and NEP are involved in the resistance of CNP to human mesangial proliferation and Col-IV expression.
Title: Receptor signaling and neutral endopeptidase are involved in the resistance of C-type natriuretic peptide to human mesangial proliferation and collagen-IV expression.
This review will focus on the novel physiological functions ascribed to CNP, the receptors/signalling mechanisms involved in mediating its cardioprotective effects, and the development of therapeutics targeting CNP signalling pathways in different disease pathologies.
Title: C-type Natriuretic Peptide: A Multifaceted Paracrine Regulator in the Heart and Vasculature.
Community elderly adults with myocardial ageing have lower NTproCNP levels compared to those with preserved myocardial function. Given that impaired myocardial relaxation probably represents early changes within the myocardium with ageing, NTproCNP may be useful as an 'upstream' biomarker useful for charting myocardial ageing
Title: N-Terminal pro C-Type Natriuretic Peptide (NTproCNP) and myocardial function in ageing.

Submit: New GeneRIF Correction See all GeneRIFs (77)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NPPC (e-PCR), detects polymorphism
- UniSTS:253992

NoName (e-PCR)
- UniSTS:483279

NoName (e-PCR)
- UniSTS:480745

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables hormone receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in blood vessel diameter maintenance	IEA Inferred from Electronic Annotation more info
involved_in blood vessel remodeling	IEA Inferred from Electronic Annotation more info
involved_in c-di-GMP signaling	IEA Inferred from Electronic Annotation more info
involved_in cGMP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of cGMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cGMP-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glycoprotein	IEA Inferred from Electronic Annotation more info
involved_in chromosome organization	IEA Inferred from Electronic Annotation more info
involved_in cumulus cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in gastric emptying	IEA Inferred from Electronic Annotation more info
involved_in growth plate cartilage chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in growth plate cartilage chondrocyte proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in meiotic cell cycle process involved in oocyte maturation	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal locomotion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of collagen biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of meiotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of oocyte maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cGMP-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor guanylyl cyclase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor guanylyl cyclase signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in regulation of smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in response to axon injury	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in response to oxygen-glucose deprivation	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: C-type natriuretic peptide

Names: natriuretic peptide precursor type C

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.