1. Gene
  2. NPTX2 - neuronal pentraxin 2 Gene

NPTX2 - neuronal pentraxin 2 Gene

Homo sapiens

Also known as NP2; NARP; NP-II

Gene ID: 4885 | Gene type: protein coding

About NPTX2

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:98,617,285-98,629,869 (from NCBI)

This gene has 2 transcripts (splice variants), 274 orthologues and 5 paralogues. Biased expression in brain (RPKM 31.6), testis (RPKM 20.6) and 4 other tissues.

Summary

This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses, resulting in non-apoptotic cell death of dopaminergic nerve cells. Up-regulation of this gene in Parkinson disease (PD) tissues suggests that the protein may be involved in the pathology of PD. [provided by RefSeq, Feb 2009]

NPTX2 Products(1)

mRNA Protein Name
NM_002523.3 NP_002514.1 neuronal pentraxin-2 precursor
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
30833544 GOA
Cellular Component GO Annotation Evidence Reference Source
is active in glutamatergic synapse IDA
IDA: Inferred from direct assay
27986928 GOA
is active in glutamatergic synapse IMP
IMP: Inferred from mutant phenotype
27986928 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

NPTX2 Protein Structure

Pentaxin

Pentaxin: Pentaxin family (233 - 416)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 431 a.a.
Protein Preferred Names Protein Names

neuronal pentraxin-2

apexin

NPTX2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
NPTX2 P47972 FZD6 Homo sapiens O60353 30833544
Intra
NPTX2 P47972 FZD6 Homo sapiens O60353 30833544
Intra
NPTX2 P47972 FZD6 Homo sapiens O60353
IF
30833544
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Narcolepsy

Paroxysmal Sleep

Gelineau Syndrome

Narcoleptic Syndrome

Narcolepsy-Cataplexy Syndrome

Cataplexy And Narcolepsy

Narcolepsy, Without Cataplexy

Gelineau'S Syndrome

Narcolepsy With Or Without Cataplexy

Narcolepsy Nos

Diabetes Insipidus, Neurohypophyseal

Neurohypophyseal Diabetes Insipidus

Cdi

Pituitary Diabetes Insipidus

Vasopressin Defective Diabetes Insipidus

Vasopressin Deficiency

Central Diabetes Insipidus

Diabetes Insipidus, Neurogenic

Diabetes Insipidus, Primary Central

Diabetes Insipidus, Cranial Type

Diabetes Insipidus Secondary To Vasopressin Deficiency

Diabetes Insipidus, Central

Diabetes Insipidus, Pituitary

NDI

Diabetes Insipidus Cranial Type

Neurogenic Diabetes Insipidus

Primary Central Diabetes Insipidus

Diabetes Insipidus
Dipsogenic Diabetes Insipidus

Primary Polydipsia

Doid:0081058

Psychogenic Polydipsia

Central Diabetes Insipidus

Neurogenic Diabetes Insipidus

Diabetes Insipidus Cranial Type

Diabetes Insipidus Neurogenic

Diabetes Insipidus Neurohypophyseal

Neurohypophyseal Diabetes Insipidus

Pituitary Diabetes Insipidus

Cdi

Doid:0081055

Diabetes Insipidus

Di - [Diabetes Insipidus]

Adh - [Antidiuretic Hormone Secretion] Deficiency

Diabetes Mellitus Insipidus

Familial Diabetes Insipidus

Antidiuretic Hormone Hyposecretion

Vasopressin Deficiency Syndrome

Primary Central Diabetes Insipidus

Vasopressin Deficiency

Vasopressin Hyposecretion

Diabetes Insipidus Secondary To Vasopressin Deficiency

Gestational Diabetes Insipidus

Transient Diabetes Insipidus Of Pregnancy

Diabetes Insipidus Gestational

Gestagenic Diabetes Insipidus

Doid:0081057

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

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
Canis familiaris NPTX2 VGNC VGNC:43934
Bos taurus NPTX2 VGNC VGNC:32219
Macaca mulatta NPTX2 VGNC VGNC:75392
Rattus norvegicus NPTX2 RGD RGD:1309447
Mus musculus NPTX2 MGD MGI:1858209
Felis catus NPTX2 VGNC VGNC:68537
Others NPTX2 NCBI