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

Also Known as CNP1; HLD20

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1267

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17500595 GOA
Cellular Component GO Annotation Evidence References 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
  • 400
  • 421 a.a.
Protein Preferred Names Protein Names

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

  • 2', 3' cyclic nucleotide 3' phosphohydrolase

CNP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CNP P09543 HTT Homo sapiens P42858 32814053
Intra
CNP P09543 HTT Homo sapiens P42858 32814053
Intra
CNP P09543 HTT Homo sapiens P42858 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

CNP Antibodies

Cat. No. Product Name Application Reactivity
HY-P80087 CNPase Antibody (YA496) WB, ICC/IF, IHC-P, FC Human, Mouse, Rat

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