Aliases for CNP Gene

Aliases for CNP Gene

  • 2',3'-Cyclic Nucleotide 3' Phosphodiesterase 2 3 5
  • 2',3'-Cyclic-Nucleotide 3'-Phosphodiesterase 3 4
  • EC 3.1.4.37 4 50
  • CNPase 3 4
  • 2', 3' Cyclic Nucleotide 3' Phosphohydrolase 3
  • HLD20 3
  • CNP1 3
  • CNP 5

External Ids for CNP Gene

Previous GeneCards Identifiers for CNP Gene

  • GC17P039672
  • GC17P042274
  • GC17P040027
  • GC17P040491
  • GC17P037372
  • GC17P040118
  • GC17P035884

Summaries for CNP Gene

GeneCards Summary for CNP Gene

CNP (2',3'-Cyclic Nucleotide 3' Phosphodiesterase) is a Protein Coding gene. Diseases associated with CNP include Leukodystrophy, Hypomyelinating, 20 and Myopia 2, Autosomal Dominant. Among its related pathways are MECP2 and Associated Rett Syndrome and Neuroscience. Gene Ontology (GO) annotations related to this gene include RNA binding and cyclic nucleotide binding.

UniProtKB/Swiss-Prot Summary for CNP Gene

  • May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in central nervous system myelin.

Gene Wiki entry for CNP Gene

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

Genomics for CNP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CNP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the CNP gene promoter:
  • C/EBPbeta
  • E47
  • HNF-4alpha1
  • HNF-4alpha2
  • LUN-1
  • MyoD
  • p53
  • Tal-1

Genomic Locations for CNP Gene

Latest Assembly
chr17:41,966,763-41,977,740
(GRCh38/hg38)
Size:
10,978 bases
Orientation:
Plus strand

Previous Assembly
chr17:40,118,813-40,129,758
(GRCh37/hg19 by Entrez Gene)
Size:
10,946 bases
Orientation:
Plus strand

chr17:40,118,759-40,129,749
(GRCh37/hg19 by Ensembl)
Size:
10,991 bases
Orientation:
Plus strand

Genomic View for CNP Gene

Genes around CNP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CNP Gene

Proteins for CNP Gene

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

    Protein Symbol:
    P09543-CN37_HUMAN
    Recommended name:
    2',3'-cyclic-nucleotide 3'-phosphodiesterase
    Protein Accession:
    P09543

    Protein attributes for CNP Gene

    Size:
    421 amino acids
    Molecular mass:
    47579 Da
    Quaternary structure:
    • Exists as monomers and homodimers.

    Three dimensional structures from OCA and Proteopedia for CNP Gene

    Alternative splice isoforms for CNP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNP Gene

Selected DME Specific Peptides for CNP Gene

P09543:
  • GEEVGEL
  • GAEEYAQQ
  • YFGKRPPGVLHCTTKFCDYGKA
  • RKSHTFLPK
  • ISALFVTPKT
  • ECKTLFILRGLPGSGKSTLAR
  • RGKLYSLG

Post-translational modifications for CNP Gene

  • Ubiquitination at Lys15, Lys87, Lys162, Lys217, Lys261, and Lys275
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for CNP

Domains & Families for CNP Gene

Gene Families for CNP Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CNP Gene

InterPro:
Blocks:
  • Cyclic nucleotide phosphodiesterase

Suggested Antigen Peptide Sequences for CNP Gene

GenScript: Design optimal peptide antigens:
  • 2',3'-cyclic-nucleotide 3'-phosphodiesterase (CN37_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P09543

UniProtKB/Swiss-Prot:

CN37_HUMAN :
  • Belongs to the 2H phosphoesterase superfamily. CNPase family.
Family:
  • Belongs to the 2H phosphoesterase superfamily. CNPase family.
genes like me logo Genes that share domains with CNP: view

Function for CNP Gene

Molecular function for CNP Gene

UniProtKB/Swiss-Prot Function:
May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in central nervous system myelin.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a nucleoside 2',3'-cyclic phosphate + H2O = a nucleoside 2'-phosphate + H(+); Xref=Rhea:RHEA:14489, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:66954, ChEBI:CHEBI:78552; EC=3.1.4.37;.
GENATLAS Biochemistry:
2',3' cyclic nucleotide 3'phosphohydrolase,myelin associated,marker of oligodendrocytes and Schwann cells

Enzyme Numbers (IUBMB) for CNP Gene

Phenotypes From GWAS Catalog for CNP Gene

Gene Ontology (GO) - Molecular Function for CNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0004113 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 17500595
GO:0016787 hydrolase activity IEA --
GO:0030551 cyclic nucleotide binding IEA --
genes like me logo Genes that share ontologies with CNP: view
genes like me logo Genes that share phenotypes with CNP: view

Human Phenotype Ontology for CNP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CNP Gene

MGI Knock Outs for CNP:
  • Cnp Cnp<tm1b(EUCOMM)Wtsi>
  • Cnp Cnp<tm1(cre)Kan>

Inhibitory RNAs for research

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

No data available for Transcription Factor Targets and HOMER Transcription for CNP Gene

Localization for CNP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNP Gene

Membrane. Lipid-anchor. Melanosome. Note=Firmly bound to membrane structures of brain white matter. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

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 CNP gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 4
mitochondrion 4
plasma membrane 3
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA --
GO:0005737 cytoplasm IBA,IDA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005874 microtubule IDA --
genes like me logo Genes that share ontologies with CNP: view

Pathways & Interactions for CNP Gene

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

Pathways by source for CNP Gene

1 Cell Signaling Technology pathway for CNP Gene

Gene Ontology (GO) - Biological Process for CNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0007268 chemical synaptic transmission TAS 1322358
GO:0007409 axonogenesis IEA --
GO:0007568 aging IEA --
GO:0008344 adult locomotory behavior IEA --
genes like me logo Genes that share ontologies with CNP: view

No data available for SIGNOR curated interactions for CNP Gene

Drugs & Compounds for CNP Gene

(10) Drugs for CNP Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Risperidone Approved, Investigational Pharma SR-2A inhibitor 545
Oxidized glutathione Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
2'-cytidylic acid Experimental Pharma 0
Antipsychotic Agents Pharma 2837

(11) Additional Compounds for CNP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 2',3'-cyclic phosphate
  • Adenosine 2',3'-cyclic phosphoric acid
  • 2',3'-CAMP
  • 2',3'-Cyclic adenosine monophosphate
  • Adenosine cyclic 2',3'-monophosphate
  • Cyclic 2',3'-(hydrogen phosphate)-adenosine
634-01-5
Adenosine 2'-phosphate
  • Adenosine 2'-phosphoric acid
  • 2'-Adenylic acid
  • Adenosine-2'-monophosphate
  • AMP 2'-Phosphate
  • 2'-AMP
130-49-4
Coproporphyrinogen I
  • 3,8,13,18-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropionic acid
  • COPROPORPHYRIN I
  • 3,8,13,18-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropionate
  • 3,8,13,18-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropanoate
  • 3,8,13,18-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropanoic acid
31110-56-2, 15569-30-9
Guanosine 2',3'-cyclic phosphate
  • Cyclic guanosine 2',3'-monophosphate
  • Guanosine 2',3'-cyclic monophosphate
  • Guanosine cyclic 2',3'-(hydrogen phosphate)
  • Guanosine cyclic-2',3'-monophosphate
  • O(2'),O(3')-Hydroxyphosphoryl-guanosine
15718-49-7
Inosine 2'-phosphate
  • Inosine 2'-phosphoric acid
  • 2' Inosine monophosphate
  • 2'-IMP
  • Inosine 2'-monophosphate
  • {[(2R,3R,4R,5R)-4-hydroxy-2-(6-hydroxy-9H-purin-9-yl)-5-(hydroxymethyl)oxolan-3-yl]oxy}phosphonate
genes like me logo Genes that share compounds with CNP: view

Transcripts for CNP Gene

mRNA/cDNA for CNP Gene

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

Inhibitory RNAs for research

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

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

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - -
SP5: -
SP6: - - - - -
SP7: - -
SP8: - - - - -
SP9: - - - -
SP10: - - -
SP11: - -
SP12:
SP13:

Relevant External Links for CNP Gene

GeneLoc Exon Structure for
CNP

Expression for CNP Gene

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

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

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x9.5) and Brain - Substantia nigra (x5.3).

Protein differential expression in normal tissues from HIPED for CNP Gene

This gene is overexpressed in Frontal cortex (23.2), Brain (19.9), and Spinal cord (19.9).

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



Protein tissue co-expression partners for CNP Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for CNP Gene:

Hs.273621

Evidence on tissue expression from TISSUES for CNP Gene

  • Nervous system(5)
  • Skin(4.9)
  • Liver(4.5)
  • Kidney(4.1)
  • Eye(3.3)
  • Blood(2.3)
  • Spleen(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with CNP: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNP Gene

Orthologs for CNP Gene

This gene was present in the common ancestor of animals.

Orthologs for CNP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CNP 29 30
  • 99.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CNP 29 30
  • 90.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CNP 29 30
  • 87.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cnp 29
  • 86.35 (n)
Mouse
(Mus musculus)
Mammalia Cnp 29 16 30
  • 85.63 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CNP 30
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CNP 29 30
  • 69.38 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CNP 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cnp 29
  • 61.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8885 29
Zebrafish
(Danio rerio)
Actinopterygii cnp 30 30
  • 30 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F26A1.14 30
  • 31 (a)
OneToOne
Species where no ortholog for CNP 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)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for CNP Gene

ENSEMBL:
Gene Tree for CNP (if available)
TreeFam:
Gene Tree for CNP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNP: view image
Alliance of Genome Resources:
Additional Orthologs for CNP

Paralogs for CNP Gene

No data available for Paralogs for CNP Gene

Variants for CNP Gene

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

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
693983 Pathogenic: Myopia 2, autosomal dominant 41,968,123(+) A/C
NM_033133.5(CNP):c.59A>C (p.Lys20Thr)
MISSENSE_VARIANT,FIVE_PRIME_UTR
834075 Pathogenic: Myopia 2, autosomal dominant 41,966,808(+) C/T
NM_033133.5(CNP):c.-77C>T
FIVE_PRIME_UTR
834076 Pathogenic: Myopia 2, autosomal dominant 41,973,692(+) G/A
NM_033133.5(CNP):c.1034G>A (p.Gly345Asp)
MISSENSE
834077 Pathogenic: Myopia 2, autosomal dominant 41,968,123(+) A/G
NM_033133.5(CNP):c.59A>G (p.Lys20Arg)
MISSENSE_VARIANT,FIVE_PRIME_UTR
834078 Pathogenic: Myopia 2, autosomal dominant 41,973,673(+) G/A
NM_033133.5(CNP):c.1015G>A (p.Val339Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CNP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159
nsv2056 CNV insertion 18451855
nsv509658 CNV insertion 20534489
nsv953897 CNV deletion 24416366

Variation tolerance for CNP Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.93; 35.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNP
Leiden Open Variation Database (LOVD)
CNP

SNP Genotyping and Copy Number Assays for research

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

Disorders for CNP Gene

MalaCards: The human disease database

(23) MalaCards diseases for CNP Gene - From: OMI, CVR, COP, and GCD

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 20
  • hld20
myopia 2, autosomal dominant
  • myp2
isolated optic neuritis
  • ion
cutaneous ganglioneuroma
  • ganglioneuroma of skin
neurofibroma
  • neurofibromas
- elite association - COSMIC cancer census association via MalaCards
Search CNP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CNP

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

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

Publications for CNP Gene

  1. No relationship between 2',3'-cyclic nucleotide 3'-phosphodiesterase and schizophrenia in the Chinese Han population: an expression study and meta-analysis. (PMID: 19348671) Che R … Shi Y (BMC medical genetics 2009) 3 22 40
  2. A family-based association study of the myelin-associated glycoprotein and 2',3'-cyclic nucleotide 3'-phosphodiesterase genes with schizophrenia. (PMID: 18496213) Voineskos AN … Kennedy JL (Psychiatric genetics 2008) 3 22 40
  3. Case-control association study of the 2',3'-cyclic nucleotide 3'-phosphodiesterase (CNP) gene and schizophrenia in the Han Chinese population. (PMID: 17306456) Tang F … Zhang D (Neuroscience letters 2007) 3 22 40
  4. The 2',3'-cyclic nucleotide 3'-phosphodiesterase and oligodendrocyte lineage transcription factor 2 genes do not appear to be associated with schizophrenia in the Japanese population. (PMID: 17010574) Usui H … Ozaki N (Schizophrenia research 2006) 3 22 40
  5. Crystal structure of the catalytic fragment of human brain 2',3'-cyclic-nucleotide 3'-phosphodiesterase. (PMID: 15713463) Sakamoto Y … Nakamura KT (Journal of molecular biology 2005) 3 4 22

Products for CNP Gene

Sources for CNP Gene