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 ... See more...

Aliases for NPPC Gene

Aliases for NPPC Gene

  • Natriuretic Peptide C 2 3 5
  • C-Type Natriuretic Peptide 3 4
  • CNP2 3 4
  • CNP 2 3
  • Natriuretic Peptide Precursor Type C 3
  • Natriuretic Peptide Precursor C 2
  • NPPC 5

External Ids for NPPC Gene

Previous GeneCards Identifiers for NPPC Gene

  • GC02M230849
  • GC02M231521
  • GC02M232755
  • GC02M232992
  • GC02M232615
  • GC02M232498
  • GC02M232786
  • GC02M224641

Summaries for NPPC Gene

Entrez Gene Summary for NPPC Gene

  • 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]

GeneCards Summary for NPPC Gene

NPPC (Natriuretic Peptide C) is a Protein Coding gene. Diseases associated with NPPC include Achondroplasia and Hypochondroplasia. Among its related pathways are Cardiac conduction and cGMP-PKG signaling pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and hormone activity.

UniProtKB/Swiss-Prot Summary for NPPC Gene

  • Hormone which plays a role in endochondral ossification through regulation of cartilaginous growth plate chondrocytes proliferation and differentiation. May also be vasoactive and natriuretic. Specifically binds and stimulates the cGMP production of the NPR2 receptor. Binds the clearance receptor NPR3 (By similarity).

Gene Wiki entry for NPPC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPPC Gene

Genomics for NPPC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NPPC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J231924 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 600.7 +0.3 304 1.8 ZNF221 HNRNPL CTCF ZNF629 JUND LARP7 ZNF143 ZIC2 RBFOX2 POLR2A NPPC COPS7B ENSG00000251485 DIS3L2 ENSG00000224376 TIGD1 MIR1471 PDE6D
GH02J232135 Enhancer 0.8 Ensembl ENCODE 16.1 -211.3 -211295 5.8 GATAD2A RXRB CEBPB ZNF316 FOXA2 MAFF MAFK MAFG MIER3 SPI1 NPPC MIR562 MIR1471 ENSG00000251485 piR-30240 piR-57394-110 DIS3L2 ALPP
GH02J232235 Enhancer 1.1 Ensembl ENCODE dbSUPER 11 -311.0 -311030 4.1 ZIC2 POLR2A TCF12 IKZF2 SOX6 ATF7 EED DPF2 JUND CEBPB NPPC MIR1471 lnc-ALPP-3 MIR562 ALPP DIS3L2
GH02J232239 Enhancer 0.8 Ensembl ENCODE dbSUPER 11 -314.1 -314096 1.4 RELA NR2F1 REST JUND MLLT1 NPPC MIR1471 lnc-ALPP-3 MIR562 ALPP DIS3L2
GH02J231877 Enhancer 0.7 Ensembl ENCODE 11.1 +48.2 48176 1.1 CEBPA CEBPB FOXA2 NFIA TEAD3 CEBPG ZNF384 NR3C1 ERF NPPC ECEL1 HSALNG0023006 RF00017-3459 PDE6D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPPC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPPC

Top Transcription factor binding sites by QIAGEN in the NPPC gene promoter:
  • AP-4
  • AREB6
  • HNF-4alpha1
  • HNF-4alpha2
  • HOXA9
  • HOXA9B
  • Ik-1
  • Meis-1
  • Meis-1a
  • RORalpha2

Genomic Locations for NPPC Gene

Genomic Locations for NPPC Gene
chr2:231,921,809-231,926,405
(GRCh38/hg38)
Size:
4,597 bases
Orientation:
Minus strand
chr2:232,786,530-232,791,113
(GRCh37/hg19)
Size:
4,584 bases
Orientation:
Minus strand

Genomic View for NPPC Gene

Genes around NPPC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPPC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPPC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPPC Gene

Proteins for NPPC Gene

  • Protein details for NPPC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23582-ANFC_HUMAN
    Recommended name:
    C-type natriuretic peptide
    Protein Accession:
    P23582
    Secondary Accessions:
    • Q4ZG41

    Protein attributes for NPPC Gene

    Size:
    126 amino acids
    Molecular mass:
    13246 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for NPPC Gene

neXtProt entry for NPPC Gene

Post-translational modifications for NPPC Gene

  • Glycosylation at Thr34
  • Modification sites at PhosphoSitePlus

Other Protein References for NPPC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NPPC Gene

Domains & Families for NPPC Gene

Gene Families for NPPC Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins
  • Transporters

Protein Domains for NPPC Gene

InterPro:
Blocks:
  • C-type natriuretic peptide signature
ProtoNet:

Suggested Antigen Peptide Sequences for NPPC Gene

GenScript: Design optimal peptide antigens:
  • C-type natriuretic peptide (ANFC_HUMAN)
  • Natriuretic peptide type C (E5LCN7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23582

UniProtKB/Swiss-Prot:

ANFC_HUMAN :
  • Belongs to the natriuretic peptide family.
Family:
  • Belongs to the natriuretic peptide family.
genes like me logo Genes that share domains with NPPC: view

Function for NPPC Gene

Molecular function for NPPC Gene

UniProtKB/Swiss-Prot Function:
Hormone which plays a role in endochondral ossification through regulation of cartilaginous growth plate chondrocytes proliferation and differentiation. May also be vasoactive and natriuretic. Specifically binds and stimulates the cGMP production of the NPR2 receptor. Binds the clearance receptor NPR3 (By similarity).
GENATLAS Biochemistry:
natriuretic peptide precursor C homolog of mouse C type (CNP),most strongly expressed in the brain,also expressed in vascular endothelial cells and other tissues,present at extremely low level in circulation,potentially playing a paracrine/autocrine role

Phenotypes From GWAS Catalog for NPPC Gene

Gene Ontology (GO) - Molecular Function for NPPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 1672777
GO:0005179 hormone activity IBA 21873635
GO:0051427 hormone receptor binding IBA,IPI 1660465
genes like me logo Genes that share ontologies with NPPC: view
genes like me logo Genes that share phenotypes with NPPC: view

Animal Models for NPPC Gene

MGI Knock Outs for NPPC:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPPC

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NPPC Gene

Localization for NPPC Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPPC Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPPC gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NPPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0030141 secretory granule IEA --
GO:0032991 protein-containing complex IDA 16870210
genes like me logo Genes that share ontologies with NPPC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NPPC Gene

Pathways & Interactions for NPPC Gene

genes like me logo Genes that share pathways with NPPC: view

Pathways by source for NPPC Gene

Gene Ontology (GO) - Biological Process for NPPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0001666 response to hypoxia IEA --
GO:0003418 growth plate cartilage chondrocyte differentiation ISS --
GO:0003419 growth plate cartilage chondrocyte proliferation ISS --
GO:0006182 cGMP biosynthetic process IDA 1672777
genes like me logo Genes that share ontologies with NPPC: view

No data available for SIGNOR curated interactions for NPPC Gene

Drugs & Compounds for NPPC Gene

(36) Drugs for NPPC Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atrial natriuretic factor (1-28) (rat) Pharma Endogenous peptide regulating blood pressure 0
BNP (1-32), human Pharma Brain natriuretic peptide 0
Brain natriuretic peptide (1-32) (human) Pharma Endogenous peptide agonist at ANP receptor A (NPR1) 0
C-type natriuretic peptide (1-22) (human, rat, swine) Pharma Endogenous peptide agonist at NPR2 0

(23) Additional Compounds for NPPC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) ApexBio Compounds for NPPC Gene

Compound Action Cas Number
Atrial natriuretic factor (1-28) (rat) 88898-17-3
BNP (1-32), human Brain natriuretic peptide 114471-18-0
Brain natriuretic peptide (1-32) (human) 124584-08-3
C-type natriuretic peptide (1-22) (human, rat, swine) 127869-51-6
genes like me logo Genes that share compounds with NPPC: view

Drug Products

Transcripts for NPPC Gene

mRNA/cDNA for NPPC Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPPC

Alternative Splicing Database (ASD) splice patterns (SP) for NPPC Gene

No ASD Table

Relevant External Links for NPPC Gene

GeneLoc Exon Structure for
NPPC

Expression for NPPC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NPPC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NPPC Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x7.0).

Protein differential expression in normal tissues from HIPED for NPPC Gene

This gene is overexpressed in Cerebrospinal fluid (49.9) and Bone marrow mesenchymal stem cell (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NPPC Gene



Protein tissue co-expression partners for NPPC Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPPC

SOURCE GeneReport for Unigene cluster for NPPC Gene:

Hs.247916

mRNA Expression by UniProt/SwissProt for NPPC Gene:

P23582-ANFC_HUMAN
Tissue specificity: [CNP-22]: In the kidney, predominantly expressed in the distal tubular cells (at protein level).

Evidence on tissue expression from TISSUES for NPPC Gene

  • Nervous system(4.7)
  • Heart(3.7)
  • Muscle(3.3)
  • Stomach(3.1)
  • Kidney(3)
  • Intestine(2.5)
  • Liver(2.5)
  • Blood(2.4)
  • Adrenal gland(2.1)
  • Bone(2)
genes like me logo Genes that share expression patterns with NPPC: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NPPC Gene

Orthologs for NPPC Gene

This gene was present in the common ancestor of chordates.

Orthologs for NPPC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NPPC 30 31
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NPPC 30 31
  • 93.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NPPC 30 31
  • 92.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nppc 30
  • 89.42 (n)
Mouse
(Mus musculus)
Mammalia Nppc 30 17 31
  • 88.36 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NPPC 31
  • 87 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NPPC 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nppc 30
  • 66.32 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8803 30
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-126j24.3 30
  • 59.3 (n)
NPPC (1 of 2) 31
  • 42 (a)
OneToMany
NPPC (2 of 2) 31
  • 42 (a)
OneToMany
Species where no ortholog for NPPC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NPPC Gene

ENSEMBL:
Gene Tree for NPPC (if available)
TreeFam:
Gene Tree for NPPC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NPPC: view image

Paralogs for NPPC Gene

No data available for Paralogs for NPPC Gene

Variants for NPPC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPPC Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
771343 Benign: not provided 231,926,198(-) G/A MISSENSE_VARIANT
rs5267 - p.Arg82Gln

Additional dbSNP identifiers (rs#s) for NPPC Gene

Structural Variations from Database of Genomic Variants (DGV) for NPPC Gene

Variant ID Type Subtype PubMed ID
esv2759117 CNV gain+loss 17122850
nsv428408 CNV gain+loss 18775914
nsv508892 CNV insertion 20534489

Variation tolerance for NPPC Gene

Residual Variation Intolerance Score: 84.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPPC Gene

Human Gene Mutation Database (HGMD)
NPPC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPPC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPPC Gene

Disorders for NPPC Gene

MalaCards: The human disease database

(24) MalaCards diseases for NPPC Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
achondroplasia
  • ach
hypochondroplasia
  • hch
congestive heart failure
  • cardiac failure congestive
acromesomelic dysplasia, maroteaux type
  • amdm
acromesomelic dysplasia
  • acromesomelic dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search NPPC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NPPC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NPPC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NPPC Gene

Publications for NPPC Gene

  1. Molecular cloning and chromosomal assignment of the mouse C-type natriuretic peptide (CNP) gene (Nppc): comparison with the human CNP gene (NPPC). (PMID: 7698765) Ogawa Y … Nakao K (Genomics 1994) 2 3 23
  2. C-type natriuretic peptide (CNP) is the major natriuretic peptide in human cerebrospinal fluid. (PMID: 8330189) Kaneko T … Hirai O (Brain research 1993) 2 3 23
  3. Isolation and identification of C-type natriuretic peptide in human monocytic cell line, THP-1. (PMID: 1472040) Ishizaka Y … Matsuo H (Biochemical and biophysical research communications 1992) 3 4 23
  4. Selective activation of the B natriuretic peptide receptor by C-type natriuretic peptide (CNP). (PMID: 1672777) Koller KJ … Goeddel DV (Science (New York, N.Y.) 1991) 3 4 23
  5. Amino-terminal fragment of C-type natriuretic peptide precursor and C-type natriuretic peptide do not correlate in patients with Chagas disease: role for neutral endopeptidase. (PMID: 20090473) Wang Y … Walther T (Journal of cardiovascular pharmacology 2010) 3 23

Products for NPPC Gene

  • Signalway ELISA kits for NPPC
  • Signalway Proteins for NPPC

Sources for NPPC Gene