• Gene id: 4885

Gene Summary

• Gene Symbol: NPTX2   Gene   UCSC   Ensembl
• Aliases: NARP, NP-II, NP2
• Gene name: neuronal pentraxin 2
• Alternate names: neuronal pentraxin-2, apexin, neuronal activity-regulated pentaxin, neuronal pentraxin II,
• Gene location: 7q22.1 (98617284: 98629868)     Exons: 5     NC_000007.14
• Gene summary(Entrez): 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-isox
• OMIM: 600750

Protein Summary

• Protein general information: P47972  
  • Name: Neuronal pentraxin 2 (NP2) (Neuronal pentraxin II) (NP II)
  • Length: 431  
  • Mass: 47042
  • Tissue specificity: Brain, pancreas, liver, heart and skeletal muscle. Highest levels are seen in the testis.
• Sequence:

  MLALLAASVALAVAAGAQDSPAPGSRFVCTALPPEAVHAGCPLPAMPMQGGAQSPEEELRAAVLQLRETVVQQKE
  TLGAQREAIRELTGKLARCEGLAGGKARGAGATGKDTMGDLPRDPGHVVEQLSRSLQTLKDRLESLEHQLRANVS
  NAGLPGDFREVLQQRLGELERQLLRKVAELEDEKSLLHNETSAHRQKTESTLNALLQRVTELERGNSAFKSPDAF
  KVSLPLRTNYLYGKIKKTLPELYAFTICLWLRSSASPGIGTPFSYAVPGQANEIVLIEWGNNPIELLINDKVAQL
  PLFVSDGKWHHICVTWTTRDGMWEAFQDGEKLGTGENLAPWHPIKPGGVLILGQEQDTVGGRFDATQAFVGELSQ
  FNIWDRVLRAQEIVNIANCSTNMPGNIIPWVDNNVDVFGGASKWPVETCEERLLDL

• Structural information:
  • Protein Domains: (223..42-)
    (/note="Pentraxin-(PTX))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01172"-)
  • Interpro: IPR013320  IPR030476  IPR001759  
  • Prosite: PS00289 PS51828
  • CDD: cd00152
  • STRING: ENSP00000265634
• Other Databases: GeneCards:  NPTX2  Malacards:  NPTX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008306	associative learning	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007268	chemical synaptic transmission	NAS	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0098962	regulation of postsynaptic neurotransmitter receptor activity	IMP	biological process
GO:0098962	regulation of postsynaptic neurotransmitter receptor activity	IDA	biological process
GO:0098962	regulation of postsynaptic neurotransmitter receptor activity	IDA	biological process
GO:0098962	regulation of postsynaptic neurotransmitter receptor activity	IDA	biological process
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq