• Gene id: 11249

Gene Summary

• Gene Symbol: NXPH2   Gene   UCSC   Ensembl
• Aliases: NPH2
• Gene name: neurexophilin 2
• Alternate names: neurexophilin-2,
• Gene location: 2q22.1 (138780389: 138669156)     Exons: 2     NC_000002.12
• OMIM: 601325

Protein Summary

• Protein general information: O95156  
  • Name: Neurexophilin 2
  • Length: 264  
  • Mass: 29938
  • Tissue specificity: Expressed in brain and kidney.
• Sequence:

  MRLRPLPLVVVPGLLQLLFCDSKEVVHATEGLDWEDKDAPGTLVGNVVHSRIISPLRLFVKQSPVPKPGPMAYAD
  SMENFWDWLANITEIQEPLARTKRRPIVKTGKFKKMFGWGDFHSNIKTVKLNLLITGKIVDHGNGTFSVYFRHNS
  TGLGNVSVSLVPPSKVVEFEVSPQSTLETKESKSFNCRIEYEKTDRAKKTALCNFDPSKICYQEQTQSHVSWLCS
  KPFKVICIYIAFYSVDYKLVQKVCPDYNYHSETPYLSSG

• Structural information:
  • Interpro: IPR010450  IPR026845  
  • STRING: ENSP00000272641
• Other Databases: GeneCards:  NXPH2  Malacards:  NXPH2

Gene ontology

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

Diseases

Associated diseases	References
Azoospermia	MIK: 19478329
Oligozoospermia	MIK: 19478329

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19478329	Azoospermia, Oligozoospermia	rs1399645, rs2063802, rs4954657	Caucasi an	40 cases	Male infertility	GWAS