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Aliases for NPPC Gene

Aliases for NPPC Gene

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

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 Paraphimosis. Among its related pathways are Cardiac conduction and Fluid shear stress and atherosclerosis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and hormone activity.

UniProtKB/Swiss-Prot 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

Additional gene information for NPPC Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPPC Gene

Genomics for NPPC Gene

GeneHancer (GH) Regulatory Elements for NPPC Gene

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
GH02I231924 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 550.8 +0.5 504 3 HDGF ARID4B SIN3A ZNF2 GLIS2 ZNF213 ZNF143 KLF7 ATF7 SP3 NPPC COPS7B ENSG00000251485 DIS3L2 RPL28P2 ENSG00000224376 TIGD1 MIR1471
GH02I232235 Enhancer 0.9 ENCODE dbSUPER 11 -310.0 -310007 1.1 BMI1 BATF ZIC2 IRF4 POLR2A ATF7 FOS IKZF2 RUNX3 NR2F1 NPPC MIR1471 GC02P232173 LOC730069 DIS3L2
GH02I231985 Enhancer 0.9 Ensembl ENCODE 10.7 -59.6 -59623 0.4 HDAC1 MEIS2 PKNOX1 ATF1 TAF9B NFRKB SIN3A RFX5 ZFHX2 POLR2B DIS3L2 ENSG00000227033 NPPC MIR1471
GH02I232237 Enhancer 0.8 ENCODE dbSUPER 11 -311.9 -311886 2.4 SRF USF1 SOX6 TAL1 CEBPG CTBP1 GATA3 ATF4 IKZF1 NPPC MIR1471 GC02P232173 LOC730069 DIS3L2
GH02I232137 Enhancer 0.7 Ensembl ENCODE 11.5 -211.5 -211528 0.3 ZNF316 MAFG MAFK EMSY MIR562 NPPC MIR1471 GC02P232174 ENSG00000227033 DIS3L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NPPC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NPPC gene promoter:

Genomic Locations for NPPC Gene

Genomic Locations for NPPC Gene
chr2:231,921,820-231,926,403
(GRCh38/hg38)
Size:
4,584 bases
Orientation:
Minus strand
chr2:232,786,530-232,791,113
(GRCh37/hg19)

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

Suggested Antigen Peptide Sequences for NPPC Gene

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

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
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).

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 receptor binding IPI 1672777
GO:0005179 hormone activity IEA --
GO:0042803 protein homodimerization activity IEA --
GO:0051427 hormone receptor binding IPI 1660465
GO:0051428 peptide hormone receptor binding IEA --
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

Clone Products

  • Addgene plasmids 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
cytosol 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 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:0043234 protein 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

3 Reactome pathways for NPPC Gene
1 KEGG pathway 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atrial natriuretic factor (1-28) (human, porcine) Pharma Endogenous peptide regulating blood pressure 0
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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NPPC: view

Drug Products

Transcripts for NPPC Gene

mRNA/cDNA for NPPC Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NPPC Gene

Natriuretic peptide C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
NPPC

Expression for NPPC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for NPPC Gene



Protein tissue co-expression partners for NPPC Gene

NURSA nuclear receptor signaling pathways regulating expression of NPPC Gene:

NPPC

SOURCE GeneReport for Unigene cluster for NPPC Gene:

Hs.247916

Evidence on tissue expression from TISSUES for NPPC Gene

  • Nervous system(4.7)
  • Heart(3.6)
  • Muscle(3.1)
  • Stomach(2.9)
  • Kidney(2.8)
  • Intestine(2.3)
  • Blood(2)
genes like me logo Genes that share expression patterns with NPPC: view

No data available for mRNA Expression by UniProt/SwissProt and 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 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia NPPC 33 34
  • 93.65 (n)
cow
(Bos Taurus)
Mammalia NPPC 33 34
  • 92.59 (n)
rat
(Rattus norvegicus)
Mammalia Nppc 33
  • 89.42 (n)
mouse
(Mus musculus)
Mammalia Nppc 33 16 34
  • 88.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NPPC 34
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NPPC 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nppc 33
  • 66.32 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8803 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-126j24.3 33
  • 59.3 (n)
NPPC (1 of 2) 34
  • 42 (a)
OneToMany
NPPC (2 of 2) 34
  • 42 (a)
OneToMany
Species where no ortholog for NPPC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for NPPC Gene

No data available for Paralogs for NPPC Gene

Variants for NPPC Gene

Sequence variations from dbSNP and Humsavar for NPPC Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000111951 -- 231,922,658(-) C/T 3_prime_UTR_variant, intron_variant
rs1000167130 -- 231,926,563(-) G/A upstream_transcript_variant
rs1000502802 -- 231,924,393(-) G/T 3_prime_UTR_variant, intron_variant
rs1001293051 -- 231,923,376(-) G/T 3_prime_UTR_variant, intron_variant
rs1001346426 -- 231,923,641(-) G/A 3_prime_UTR_variant, intron_variant

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

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

- 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
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 22 58
  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 22 58
  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 22 58
  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 22 58
  5. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E … Estivill X (Journal of psychiatric research 2010) 3 44 58

Products for NPPC Gene

  • Addgene plasmids for NPPC

Sources for NPPC Gene

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