• Gene id: 80301

Gene Summary

• Gene Symbol: PLEKHO2   Gene   UCSC   Ensembl
• Aliases: PLEKHQ1, PP1628, pp9099
• Gene name: pleckstrin homology domain containing O2
• Alternate names: pleckstrin homology domain-containing family O member 2, PH domain-containing family O member 2, PH domain-containing family Q member 1, PH domain-containing protein, pleckstrin homology domain-containing family Q member 1,
• Gene location: 15q22.31 (64841882: 64868001)     Exons: 6     NC_000015.10
• OMIM: 608308

Protein Summary

• Protein general information: Q8TD55  
  • Name: Pleckstrin homology domain containing family O member 2 (PH domain containing family O member 2) (Pleckstrin homology domain containing family Q member 1) (PH domain containing family Q member 1)
  • Length: 490  
  • Mass: 53350
• Sequence:

  MEEEGVKEAGEKPRGAQMVDKAGWIKKSSGGLLGFWKDRYLLLCQAQLLVYENEDDQKCVETVELGSYEKCQDLR
  ALLKRKHRFILLRSPGNKVSDIKFQAPTGEEKESWIKALNEGINRGKNKAFDEVKVDKSCALEHVTRDRVRGGQR
  RRPPTRVHLKEVASAASDGLLRLDLDVPDSGPPVFAPSNHVSEAQPRETPRPLMPPTKPFLAPETTSPGDRVETP
  VGERAPTPVSASSEVSPESQEDSETPAEEDSGSEQPPNSVLPDKLKVSWENPSPQEAPAAESAEPSQAPCSETSE
  AAPREGGKPPTPPPKILSEKLKASMGEMQASGPPAPGTVQVSVNGMDDSPEPAKPSQAEGTPGTPPKDATTSTAL
  PPWDLPPQFHPRCSSLGDLLGEGPRHPLQPRERLYRAQLEVKVASEQTEKLLNKVLGSEPAPVSAETLLSQAVEQ
  LRQATQVLQEMRDLGELSQEAPGLREKRKELVTLYRRSAP

• Structural information:
  • Protein Domains: (18..11-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  
  • Prosite: PS50003
  • STRING: ENSP00000326706
• Other Databases: GeneCards:  PLEKHO2  Malacards:  PLEKHO2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray