Gene Gene information from NCBI Gene database.
Entrez ID 1267
Gene name 2'',3''-cyclic nucleotide 3'' phosphodiesterase
Gene symbol CNP
Synonyms (NCBI Gene)
CN37CNP1HLD20
Chromosome 17
Chromosome location 17q21.2
miRNA miRNA information provided by mirtarbase database.
565
miRTarBase ID miRNA Experiments Reference
MIRT022857 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT051255 hsa-miR-16-5p CLASH 23622248
MIRT049951 hsa-miR-30a-5p CLASH 23622248
MIRT042728 hsa-miR-345-5p CLASH 23622248
MIRT040114 hsa-miR-615-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TSC22D1 Activation 20802130
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IEA
GO:0004113 Function 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity IBA
GO:0004113 Function 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity IEA
GO:0004113 Function 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity ISS
GO:0004113 Function 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity TAS 8392017
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
123830 2158 ENSG00000173786
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09543
Protein name 2',3'-cyclic-nucleotide 3'-phosphodiesterase (CNP) (CNPase) (EC 3.1.4.37)
Protein function Catalyzes the formation of 2'-nucleotide products from 2',3'-cyclic substrates (By similarity). May participate in RNA metabolism in the myelinating cell, CNP is the third most abundant protein in central nervous system myelin (By similarity). {
PDB 1WOJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13671 AAA_33 52 175 Domain
PF05881 CNPase 186 420 Family
Sequence
Sequence length 421
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Leukodystrophy, hypomyelinating, 20 Pathogenic rs2050933471 RCV001263540
Myopia 2, autosomal dominant Pathogenic rs199923805, rs1387950081, rs2051026773, rs1422332023 RCV001072104
RCV001072107
RCV001072108
RCV001072109
RCV001072111
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CNP-related disorder Likely benign rs199706471, rs377381620 RCV003929087
RCV003959450
Marfanoid habitus and intellectual disability Uncertain significance rs376643712 RCV000850468
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achondroplasia Associate 28661490, 34930956
Arthritis Rheumatoid Associate 33653372
Atherosclerosis Associate 34308964
Bipolar Disorder Associate 25539505
Carcinoma Hepatocellular Inhibit 34352718
CATSHL syndrome Associate 30032985
Genetic Diseases Inborn Associate 34930956
Heart Failure Associate 25117468
Hepatitis B Chronic Associate 24260477
HIV Infections Associate 26033855