CNP Gene Summary [Human]
Predicted to enable 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity. Involved in substantia nigra development. Located in several cellular components, including extracellular space; microtubule; and plasma membrane. Implicated in hypomyelinating leukodystrophy 20; multiple sclerosis; and schizophrenia. Biomarker of alcoholic liver cirrhosis; multiple sclerosis; and restless legs syndrome. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | CNP |
| Official Name | 2',3'-cyclic nucleotide 3' phosphodiesterase [Source:HGNC Symbol;Acc:HGNC:2158] |
| Ensembl ID | ENSG00000173786 |
| Bio databases IDs | |
| Aliases | 2',3'-cyclic nucleotide 3' phosphodiesterase |
| Synonyms | 2,3''-CYCLIC NUCLEOTIDE 3''-PHOSPHODIESTERASE, 2',3'-cyclic nucleotide 3' phosphodiesterase, CNP1, CNPase, CNPF, CNPI, CNPII, HLD20 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CNP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cyclic nucleotide binding
- 2',3'-cyclic nucleotide 3'-phosphodiesterase (CNP or CNPase)
- 50S ribosome-binding GTPase
- N-terminal helicase domain of the DEAD-box helicase superfamily
- 2',3'-cyclic-nucleotide 3'-phosphodiesterase
- enzyme
- protein binding
- AAA domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant myopia type 2
- Parkinson disease
- hydrocephalus
- uterine leiomyoma
- leiomyomatosis
- organismal death
- Huntington disease
- schizophrenia
- thrombosis
- Alzheimer disease
role in cell
- proliferation
- differentiation
- apoptosis
- production in
- quantity
- formation
- assembly
- cellular infiltration by
- development
- area
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- myelin lamellae
- cytoskeleton
- Extracellular Space
- perinuclear region
- cellular membrane
- Plasma Membrane
- microtubules
- mitochondrial outer membrane
- mitochondrial inner membrane
- myelin sheath outer loop
- paranodal loops
- myelin sheath inner loop
- myelin sheath
- cellular protrusions
- membrane processes
- pseudopodia
- microvilli
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CNP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oligodendrocyte differentiation
- forebrain development
- axonogenesis
- cyclic nucleotide catabolic process
- synaptic transmission
- adult locomotory behavior
- response to lipopolysaccharide
- response to toxin
- regulation of mitochondrial membrane permeability
- substantia nigra development
Cellular Component
Where in the cell the gene product is active
- synapse
- mitochondrial outer membrane
- mitochondrial inner membrane
- extracellular space
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- myelin sheath adaxonal region
- microvillus
- cytoplasm
- melanosome
- membrane
- pseudopodium
- myelin sheath abaxonal region
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- cyclic nucleotide binding
- 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity