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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Leukodystrophy, hypomyelinating, 20 Pathogenic rs2050933471 RCV001263540
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia 2, autosomal dominant Pathogenic rs199923805, rs1387950081, rs2051026773, rs1422332023 RCV001072104
RCV001072107
RCV001072108
RCV001072109
RCV001072111
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CNP-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations