• Gene id: 11248

Gene Summary

• Gene Symbol: NXPH3   Gene   UCSC   Ensembl
• Aliases: NPH3
• Gene name: neurexophilin 3
• Alternate names: neurexophilin-3,
• Gene location: 17q21.33 (49575870: 49583826)     Exons: 2     NC_000017.11
• OMIM: 604636

Protein Summary

• Protein general information: O95157  
  • Name: Neurexophilin 3
  • Length: 252  
  • Mass: 28127
  • Tissue specificity: Highest level in brain.
• Sequence:

  MQLTRCCFVFLVQGSLYLVICGQDDGPPGSEDPERDDHEGQPRPRVPRKRGHISPKSRPMANSTLLGLLAPPGEA
  WGILGQPPNRPNHSPPPSAKVKKIFGWGDFYSNIKTVALNLLVTGKIVDHGNGTFSVHFQHNATGQGNISISLVP
  PSKAVEFHQEQQIFIEAKASKIFNCRMEWEKVERGRRTSLCTHDPAKICSRDHAQSSATWSCSQPFKVVCVYIAF
  YSTDYRLVQKVCPDYNYHSDTPYYPSG

• Structural information:
  • Interpro: IPR010450  IPR026845  
  • STRING: ENSP00000329295
• Other Databases: GeneCards:  NXPH3  Malacards:  NXPH3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007218	neuropeptide signaling pathway	NAS	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq