• Gene id: 5822

Gene Summary

• Gene Symbol: PWP2   Gene   UCSC   Ensembl
• Aliases: EHOC-17, PWP2H, UTP1
• Gene name: PWP2 small subunit processome component
• Alternate names: periodic tryptophan protein 2 homolog, PWP2 periodic tryptophan protein homolog, PWP2, UTPB SSU processome subunit,
• Gene location: 21q22.3 (44107322: 44131180)     Exons: 22     NC_000021.9
• OMIM: 601475

Protein Summary

• Protein general information: Q15269  
  • Name: Periodic tryptophan protein 2 homolog
  • Length: 919  
  • Mass: 102452
• Sequence:

  MKFAYRFSNLLGTVYRRGNLNFTCDGNSVISPVGNRVTVFDLKNNKSDTLPLATRYNVKCVGLSPDGRLAIIVDE
  GGDALLVSLVCRSVLHHFHFKGSVHSVSFSPDGRKFVVTKGNIAQMYHAPGKKREFNAFVLDKTYFGPYDETTCI
  DWTDDSRCFVVGSKDMSTWVFGAERWDNLIYYALGGHKDAIVACFFESNSLDLYSLSQDGVLCMWQCDTPPEGLR
  LKPPAGWKADLLQREEEEEEEEDQEGDRETTIRGKATPAEEEKTGKVKYSRLAKYFFNKEGDFNNLTAAAFHKKS
  HLLVTGFASGIFHLHELPEFNLIHSLSISDQSIASVAINSSGDWIAFGCSGLGQLLVWEWQSESYVLKQQGHFNS
  MVALAYSPDGQYIVTGGDDGKVKVWNTLSGFCFVTFTEHSSGVTGVTFTATGYVVVTSSMDGTVRAFDLHRYRNF
  RTFTSPRPTQFSCVAVDASGEIVSAGAQDSFEIFVWSMQTGRLLDVLSGHEGPISGLCFNPMKSVLASASWDKTV
  RLWDMFDSWRTKETLALTSDALAVTFRPDGAELAVATLNSQITFWDPENAVQTGSIEGRHDLKTGRKELDKITAK
  HAAKGKAFTALCYSADGHSILAGGMSKFVCIYHVREQILMKRFEISCNLSLDAMEEFLNRRKMTEFGNLALIDQD
  AGQEDGVAIPLPGVRKGDMSSRHFKPEIRVTSLRFSPTGRCWAATTTEGLLIYSLDTRVLFDPFELDTSVTPGRV
  REALRQQDFTRAILMALRLNESKLVQEALEAVPRGEIEVVTSSLPELYVEKVLEFLASSFEVSRHLEFYLLWTHK
  LLMLHGQKLKSRAGTLLPVIQFLQKSIQRHLDDLSKLCSWNHYNMQYALAVSKQRGTKRSLDPLGSEEEAEASED
  DSLHLLGGGGRDSEEEMLA

• Structural information:
  • Interpro: IPR020472  IPR027145  IPR011047  IPR007148  IPR015943   IPR001680  IPR019775  IPR017986  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000291576
• Other Databases: GeneCards:  PWP2  Malacards:  PWP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000028	ribosomal small subunit assembly	IBA	biological process
GO:0032040	small-subunit processome	IBA	cellular component
GO:0000462	maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0034388	Pwp2p-containing subcomplex of 90S preribosome	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006364	rRNA processing	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

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