NPTX2 - neuronal pentraxin 2 Gene

Also Known as NP2; NARP; NP-II

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4885

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
Molecular Function GO Annotation Evidence Referencias Source
enables protein binding IPI
IPI: Inferred from physical interaction
30833544 GOA
Cellular Component GO Annotation Evidence Referencias 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 Referencias
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