CNP Gene (2',3'-Cyclic Nucleotide 3'-Phosphodiesterase)
A key enzyme in myelination and oligodendrocyte function, linked to neurological disorders and cancer.
Gene Information Card
| Symbol | CNP |
|---|---|
| Full Name | 2',3'-Cyclic Nucleotide 3'-Phosphodiesterase |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 1267 ncbi.nlm.nih.gov/gene/1267 |
| Ensembl ID | ENSG00000173786 |
| UniProt ID | P09543 |
| OMIM ID | 123830 |
| HGNC ID | 2158 |
| Aliases | CNP1, CNP2, CNPase |
Description
The CNP gene encodes 2',3'-cyclic-nucleotide 3'-phosphodiesterase (CNPase), an enzyme that catalyzes the hydrolysis of 2',3'-cyclic nucleotides to 2'-nucleotides. CNPase is a major component of central nervous system myelin and is essential for oligodendrocyte differentiation and axonal support. It is also expressed in non-neural tissues and has been implicated in cell proliferation and RNA metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple sclerosis | Reduced CNP expression in oligodendrocytes may impair myelin maintenance and repair. | ClinVar, NCBI Gene |
| Hereditary spastic paraplegia (HSP) | Mutations in CNP cause axonal degeneration and myelin abnormalities. | OMIM, ClinVar |
| Glioma | Altered CNP expression is associated with tumor progression and poor prognosis. | COSMIC, NCBI Gene |
| Schizophrenia | CNP polymorphisms have been linked to altered white matter integrity and disease risk. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 48.5 | High |
| Spinal cord | 35.2 | High |
| Testis | 12.1 | Medium |
| Heart | 2.3 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 22.4 | Neuronal model |
| U-87 MG (glioblastoma) | 18.7 | Glial origin |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35Cys) | Missense | <0.01% | Reduced enzyme activity; associated with HSP |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Impaired myelin compaction |
| c.1120_1121insA | Frameshift | <0.01% | Loss of function; severe neurological phenotype |
| c.1265C>T (p.Thr422Met) | Missense | 0.02% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations (e.g., p.Arg35Cys, c.1120_1121insA) reduce or abolish CNPase enzymatic activity, leading to myelin defects and axonal degeneration.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CNP.
Dominant Negative (DN)
Some missense mutations (e.g., p.Gly163Arg) may exert dominant-negative effects by disrupting CNP dimerization and myelin assembly.
View complete mutation data：
Gene Ontology (GO)
| • 2' | • 3'-cyclic-nucleotide 3'-phosphodiesterase activity |
| • RNA binding | • Myelin sheath |
| • Oligodendrocyte differentiation | • Nucleotide metabolic process |
| • Central nervous system myelination |
Pathways
• Myelin maintenance and compaction
• 2'
• 3'-cyclic nucleotide metabolism
• Oligodendrocyte development
Protein Summary
CNPase is a 46 kDa protein localized to the myelin sheath and oligodendrocyte processes. It contains a catalytic domain that hydrolyzes 2',3'-cyclic nucleotides and an N-terminal domain involved in RNA binding and protein-protein interactions. CNPase is essential for maintaining axonal integrity and myelin compaction. Its expression is highest in the brain and spinal cord, with lower levels in testis and heart. Mutations in CNP cause hereditary spastic paraplegia and are associated with multiple sclerosis and glioma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNP Knockout HEK293 Cell Line | EDJ-KQ3872 | Human | 1267 | Details Get a Quote |
| CNPY3 Knockout HEK293 Cell Line | EDJ-KQ7135 | Human | 10695 | Details Get a Quote |
| CNPY4 Knockout HEK293 Cell Line | EDJ-KQ11502 | Human | 245812 | Details Get a Quote |
| CNPY1 Knockout HEK293 Cell Line | EDJ-KQ12965 | Human | 285888 | Details Get a Quote |
| CNP Knockout A-549 Cell Line | EDJ-KQ26075 | Human | 1267 | Details Get a Quote |
| CNP Knockout HCT 116 Cell Line | EDJ-KQ26076 | Human | 1267 | Details Get a Quote |
| CNP Knockout HeLa Cell Line | EDJ-KQ26077 | Human | 1267 | Details Get a Quote |
| CNPY3 Knockout A-549 Cell Line | EDJ-KQ32020 | Human | 10695 | Details Get a Quote |
| CNPY3 Knockout HCT 116 Cell Line | EDJ-KQ32021 | Human | 10695 | Details Get a Quote |
| CNPY3 Knockout HeLa Cell Line | EDJ-KQ32022 | Human | 10695 | Details Get a Quote |
| CNPY4 Knockout A-549 Cell Line | EDJ-KQ39828 | Human | 245812 | Details Get a Quote |
| CNPY4 Knockout HCT 116 Cell Line | EDJ-KQ39829 | Human | 245812 | Details Get a Quote |
| CNPY4 Knockout HeLa Cell Line | EDJ-KQ39830 | Human | 245812 | Details Get a Quote |
| CNPY2 Knockout HEK293 Cell Line | EDJ-KQ50959 | Human | 10330 | Details Get a Quote |
| CNPPD1 Knockout HEK293 Cell Line | EDJ-KQ51197 | Human | 27013 | Details Get a Quote |
