Human Gene NPPC (ENST00000409852.2) from GENCODE V44
  Description: Homo sapiens natriuretic peptide C (NPPC), mRNA. (from RefSeq NM_024409)
RefSeq Summary (NM_024409): 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].
Gencode Transcript: ENST00000409852.2
Gencode Gene: ENSG00000163273.4
Transcript (Including UTRs)
   Position: hg38 chr2:231,921,809-231,926,396 Size: 4,588 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr2:231,925,425-231,926,249 Size: 825 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:231,921,809-231,926,396)mRNA (may differ from genome)Protein (126 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ANFC_HUMAN
DESCRIPTION: RecName: Full=C-type natriuretic peptide; Contains: RecName: Full=CNP-22; Contains: RecName: Full=CNP-29; Contains: RecName: Full=CNP-53; Flags: Precursor;
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).
SUBCELLULAR LOCATION: Secreted.
SIMILARITY: Belongs to the natriuretic peptide family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NPPC
Diseases sorted by gene-association score: achondroplasia (22), paraphimosis (16), acromesomelic dysplasia, maroteaux type (12), congestive heart failure (10), hypochondroplasia (9), acromesomelic dysplasia (9), short-rib thoracic dysplasia 5 with or without polydactyly (7), intracranial hypertension (5), skeletal dysplasias (4), heart disease (2), myocardial infarction (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.50 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 29.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -52.60147-0.358 Picture PostScript Text
3' UTR -111.40527-0.211 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002406 - C_natriurtcpep
IPR000663 - Natr_peptide

Pfam Domains:
PF00212 - Atrial natriuretic peptide

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1JDP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P23582
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005179 hormone activity
GO:0042803 protein homodimerization activity
GO:0051427 hormone receptor binding
GO:0051428 peptide hormone receptor binding

Biological Process:
GO:0001503 ossification
GO:0001666 response to hypoxia
GO:0003418 growth plate cartilage chondrocyte differentiation
GO:0003419 growth plate cartilage chondrocyte proliferation
GO:0006182 cGMP biosynthetic process
GO:0006457 protein folding
GO:0007168 receptor guanylyl cyclase signaling pathway
GO:0008285 negative regulation of cell proliferation
GO:0009791 post-embryonic development
GO:0010469 regulation of receptor activity
GO:0022414 reproductive process
GO:0030814 regulation of cAMP metabolic process
GO:0030823 regulation of cGMP metabolic process
GO:0030828 positive regulation of cGMP biosynthetic process
GO:0040014 regulation of multicellular organism growth
GO:0042493 response to drug
GO:0045471 response to ethanol
GO:0045669 positive regulation of osteoblast differentiation
GO:0048513 animal organ development
GO:0048660 regulation of smooth muscle cell proliferation
GO:0050880 regulation of blood vessel size
GO:0051053 negative regulation of DNA metabolic process
GO:0051447 negative regulation of meiotic cell cycle
GO:1900194 negative regulation of oocyte maturation
GO:1903779 regulation of cardiac conduction

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0030141 secretory granule
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  JF420840 - Homo sapiens natriuretic peptide precursor type C mRNA, partial cds.
HQ419060 - Homo sapiens natriuretic peptide precursor type C (NPPC) mRNA, partial cds and 3' UTR.
BC105065 - Homo sapiens natriuretic peptide precursor C, mRNA (cDNA clone MGC:132725 IMAGE:8144068), complete cds.
BC105067 - Homo sapiens natriuretic peptide precursor C, mRNA (cDNA clone MGC:132727 IMAGE:8144070), complete cds.
BC069120 - Homo sapiens natriuretic peptide precursor C, mRNA (cDNA clone MGC:95399 IMAGE:7216974), complete cds.
E03596 - DNA encoding prepro human c-type natriuretic peptide(prepro hCNP).
AB464626 - Synthetic construct DNA, clone: pF1KB8868, Homo sapiens NPPC gene for natriuretic peptide precursor C, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04270 - Vascular smooth muscle contraction

Reactome (by CSHL, EBI, and GO)

Protein P23582 (Reactome details) participates in the following event(s):

R-HSA-5692408 NPR2 binds NPPC
R-HSA-5578768 Physiological factors
R-HSA-5576891 Cardiac conduction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: ANFC_HUMAN, CNP2, ENST00000409852.1, NM_024409, P23582, Q4ZG41, uc002vsl.1, uc002vsl.2, uc002vsl.3, uc002vsl.4
UCSC ID: ENST00000409852.2
RefSeq Accession: NM_024409
Protein: P23582 (aka ANFC_HUMAN)
CCDS: CCDS2489.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.