1. Gene
  2. CNP - 2',3'-cyclic nucleotide 3' phosphodiesterase Gene

CNP - 2',3'-cyclic nucleotide 3' phosphodiesterase Gene

Homo sapiens

Also known as CNP1; HLD20

Gene ID: 1267 | Gene type: protein coding

About CNP

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:41,966,795-41,977,740 (from NCBI)

This gene has 12 transcripts (splice variants), 196 orthologues and is associated with 1 phenotype. Broad expression in brain (RPKM 130.3), kidney (RPKM 16.0) and 18 other tissues.

Summary

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]

CNP Products(2)

mRNA Protein Name
NM_001330216.2 NP_001317145.1 2',3'-cyclic-nucleotide 3'-phosphodiesterase isoform 2
NM_033133.5 NP_149124.3 2',3'-cyclic-nucleotide 3'-phosphodiesterase isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
17500595 GOA
Cellular Component GO Annotation Evidence Reference Source
located in microtubule IDA
IDA: Inferred from direct assay
21525035 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CNP Protein Structure

AAA_33

AAA_33: AAA domain (52 - 156)

CNPase

CNPase: 2',3'-cyclic nucleotide 3'-phosphodiesterase (CNP or CNPase) (186 - 421)

  • 0
  • 100
  • 200
  • 300
  • 421 a.a.
Protein Preferred Names Protein Names

2',3'-cyclic-nucleotide 3'-phosphodiesterase

2', 3' cyclic nucleotide 3' phosphohydrolase

Related Diseases

Diseases Alias
Leukodystrophy, Hypomyelinating, 20

HLD20

Hypomyelinating Leukodystrophy 20

Myopia 2, Autosomal Dominant

Myopia 2

MYP2

Myopia-2

Myopia, Autosomal Dominant, Type 2

Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating

Leukodystrophy

Leukodystrophies

Cutaneous Ganglioneuroma

Ganglioneuroma Of Skin

Neurofibroma

Neurofibromas

Neurofibromatoses

Nerve Sheath Tumors

Allergic Urticaria
Multiple Sclerosis

MS

Multiple Sclerosis, Susceptibility To

Disseminated Sclerosis

Multiple Sclerosis, Disease Progression, Modifier Of

Insular Sclerosis

Multiple Sclerosis Modifier Of Disease Progression

Multiple Sclerosis, Susceptibility To 1

Multiple Sclerosis, Susceptibility To, 1

Multiple Sclerosis 1

Generalized Multiple Sclerosis

Multiple Sclerosis Variant

Multiple Sclerosis Susceptibility To

Cerebrospinal Sclerosis

Generalised Multiple Sclerosis

Ms - [Multiple Sclerosis]

Disseminated Cerebrospinal Sclerosis

Disseminated Multiple Sclerosis

Disseminated Nervous System Myelosclerosis

Multiple Cerebrospinal Sclerosis

Multiple Combined Sclerosis

Multiple Sclerosis Generalised

Disseminated Brain Sclerosis

Disseminated Spinal Sclerosis

Insular Brain Sclerosis

Miliary Brain Sclerosis

Multiple Combined Sclerosis Of Spinal Cord

Multiple Ascending Sclerosis

Multiple Brain Sclerosis

Multiple Sclerosis Of Brain Stem

Multiple Sclerosis Of The Brain Stem

Multiple Sclerosis Of Cord

Sclérose En Plaques

Plaque Sclerosis

Multiple Sclerosis Of The Spinal Cord

Niemann-Pick Disease, Type A

Niemann-Pick Disease Type A

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency

Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

Acid Sphingomyelinase Deficiency, Neurovisceral Type

Asmd, Neurovisceral Type

Infantile Neurovisceral Acid Sphingomyelinase Deficiency

Infantile Neurovisceral Asmd

Npd-A

Niemann-Pick Disease A

NPDA

Classical Niemann-Pick Disease

Niemann-Pick Disease Acute Neuronopathic Form

Niemann-Pick Disease Acute Neurovisceral Form

Niemann-Pick Disease Classical Infantile Form

Niemann-Pick Disease Intermediate Protracted Neurovisceral

Niemann-Pick Disease Neuronopathic Type

Niemann-Pick Disease Type I

Npa

Niemann-Pick Diseases

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis

Niemann-Pick Diseases

Lipoid Histiocytosis

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency Disease

Lipid Histiocytosis

Neuronal Cholesterol Lipidosis

Neuronal Lipidosis

Npd

Sphingomyelinase Deficiency

Niemann-Pick Disease, Type A

Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy

Quadriplegic Infantile Cerebral Palsy

Tetraplegic Infantile Cerebral Palsy

Cerebral Palsy Spastic Quadriplegic

Quadriplegic Cerebral Palsy

Spastic Quadriplegia Cerebral Palsy

Spastic Tetraplegia Cerebral Palsy

Cerebral Palsy, Quadriplegic, Infantile

Cerebral Palsy With Spastic Tetraplegia

Congenital Spastic Quadriplegia

Spastic Tetraplegic Cerebral Palsy

Congenital Quadriplegia Nos

Tetraplegic Cerebral Palsy

Pelizaeus-Merzbacher Disease

PMD

HLD1

Pelizaeus-Merzbacher Brain Sclerosis

Leukodystrophy, Hypomyelinating, 1

Diffuse Familial Brain Sclerosis

Pelizaeus Merzbacher Brain Sclerosis

Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type

Cockayne-Pelizaeus-Merzbacher Disease

Hypomyelinating Leukodystrophy 1

Leukodystrophy, Sudanophilic

Pelizaeus Merzbacher Disease

Hypomyelinating Leukodystrophy, 1

Sudanophilic Leukodystrophy

Pelizaeus-Merzbacher Disease, Connatal Form

Connatal Pmd

Pelizaeus-Merzbacher Disease Type Ii

Severe Pmd

Null Syndrome

Plp1 Null Syndrome

Pelizaeus-Merzbacher Disease, Null Syndrome

Brain Sclerosis Diffuse Familial

Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type

Leukodystrophy Hypomyelinating 1

Diffuse Cerebral Sclerosis Of Schilder

Oligodendroglioma

Oligodendroglial Neoplasm

Oligodendroglial Tumor

Oligodendroglial Tumors

Well Differentiated Oligodendroglioma

Striatonigral Degeneration
Alcoholic Liver Cirrhosis

Alcoholic Cirrhosis

Portal Cirrhosis

Alcoholic Cirrhosis Of Liver

Liver Cirrhosis, Alcoholic

Laennec'S Cirrhosis

Laennec'S Cirrhosis, Alcoholic

Alcohol Cirrhosis

Alcoholic Laennec Cirrhosis

Alcoholic Cirrhosis Nos

Etoh Cirrhosis

Alcohol Hepatic Cirrhosis

Alcohol Liver Cirrhosis

Laennec Cirrhosis

Quadriplegia

Tetraplegia

Tetraplegias

Olivopontocerebellar Atrophy

Thomas Syndrome

Olivopontocerebellar Atrophies

Dejerine-Thomas Syndrome

Thomas' Syndrome

Wadia-Swami Syndrome

Opca

Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome

Spinocerebellar Ataxia Type 2

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Mannosidosis, Beta A, Lysosomal

Beta-Mannosidosis

Lysosomal Beta-Mannosidase Deficiency

Beta-Mannosidase Deficiency

Beta-D-Mannosidosis

Mannosidosis, Beta

MANSB

Lysosomal Beta A Mannosidosis

Spastic Paraplegia 2, X-Linked

SPG2

Hereditary Spastic Paraplegia 2

Sppx2

Spastic Paraplegia Type 2

Spastic Paraplegia 2

Hereditary X-Linked Recessive Spastic Paraplegia

X-Linked Spastic Paraplegia 2

X Linked Recessive Hereditary Spastic Paraplegia

Spastic Gait Type 2

Spastic Paraparesis Type 2

X-Linked Spastic Paraplegia Type 2

Spastic Paraplegia Type 2, X-Linked

Spastic Paraplegia-2

Paraplegia, Spastic, Type 2

Restless Legs Syndrome

Wed

Willis-Ekbom Disease

Restless Leg Syndrome

Ekbom Syndrome

Wittmaack-Ekbom Syndrome

Willis Ekbom Disease

Ekbom'S Syndrome

Rls

Restless Legs

Restless Legs Syndrome, Susceptibility To

Hypertrophic Neuropathy Of Dejerine-Sottas

Dejerine-Sottas Disease

Dejerine-Sottas Syndrome

Charcot-Marie-Tooth Disease Type 3

DSS

Hereditary Motor And Sensory Neuropathy Type Iii

Hmsn3

Dejerine-Sottas Neuropathy

Hmsn Iii

Charcot-Marie-Tooth Disease, Type 3

Cmt3

Dsn

Hmsn 3

Hereditary Motor And Sensory Neuropathy Type 3

Hereditary Motor And Sensory Neuropathy 3

Hypertrophic Neuropathy Of Infancy

Charcot-Marie-Tooth Disease Demyelinating Type 4f

Charcot-Marie-Tooth Disease Type 4f

Charcot-Marie-Tooth Neuropathy Type 4f

Cmt4f

Hereditary Motor And Sensory Neuropathy Iii

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CNP MGD MGI:88437
Macaca mulatta CNP VGNC VGNC:71279
Canis familiaris CNP VGNC VGNC:39421
Rattus norvegicus CNP RGD RGD:2368
Felis catus CNP VGNC VGNC:61031
Bos taurus CNP VGNC VGNC:27525
Others CNP NCBI