• Gene id: 23467

Gene Summary

• Gene Symbol: NPTXR   Gene   UCSC   Ensembl
• Aliases: NPR
• Gene name: neuronal pentraxin receptor
• Alternate names: neuronal pentraxin receptor,
• Gene location: 22q13.1 (38844027: 38818451)     Exons: 5     NC_000022.11
• Gene summary(Entrez): This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Stud
• OMIM: 615587

Protein Summary

• Protein general information: O95502  
  • Name: Neuronal pentraxin receptor
  • Length: 500  
  • Mass: 52846
• Sequence:

  MKFLAVLLAAGMLAFLGAVICIIASVPLAASPARALPGGADNASVASGAAASPGPQRSLSALHGAGGSAGPPALP
  GAPAASAHPLPPGPLFSRFLCTPLAAACPSGAQQGDAAGAAPGEREELLLLQSTAEQLRQTALQQEARIRADQDT
  IRELTGKLGRCESGLPRGLQGAGPRRDTMADGPWDSPALILELEDAVRALRDRIDRLEQELPARVNLSAAPAPVS
  AVPTGLHSKMDQLEGQLLAQVLALEKERVALSHSSRRQRQEVEKELDVLQGRVAELEHGSSAYSPPDAFKISIPI
  RNNYMYARVRKALPELYAFTACMWLRSRSSGTGQGTPFSYSVPGQANEIVLLEAGHEPMELLINDKVAQLPLSLK
  DNGWHHICIAWTTRDGLWSAYQDGELQGSGENLAAWHPIKPHGILILGQEQDTLGGRFDATQAFVGDIAQFNLWD
  HALTPAQVLGIANCTAPLLGNVLPWEDKLVEAFGGATKAAFDVCKGRAKA

• Structural information:
  • Protein Domains: (292..49-)
    (/note="Pentraxin-(PTX))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01172"-)
  • Interpro: IPR013320  IPR001759  
  • Prosite: PS51828
  • CDD: cd00152
  • STRING: ENSP00000327545
• Other Databases: GeneCards:  NPTXR  Malacards:  NPTXR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0098962	regulation of postsynaptic neurotransmitter receptor activity	IMP	biological process
GO:0098978	glutamatergic synapse	IMP	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq