• Gene id: 81490

Gene Summary

• Gene Symbol: PTDSS2   Gene   UCSC   Ensembl
• Aliases: PSS2
• Gene name: phosphatidylserine synthase 2
• Alternate names: phosphatidylserine synthase 2, PSS-2, ptdSer synthase 2, serine-exchange enzyme II,
• Gene location: 11p15.5 (448214: 491399)     Exons: 16     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity
• OMIM: 610496

Protein Summary

• Protein general information: Q9BVG9  
  • Name: Phosphatidylserine synthase 2 (PSS 2) (PtdSer synthase 2) (EC 2.7.8.29) (Serine exchange enzyme II)
  • Length: 487  
  • Mass: 56253
• Sequence:

  MRRGERRDAGGPRPESPVPAGRASLEEPPDGPSAGQATGPGEGRRSTESEVYDDGTNTFFWRAHTLTVLFILTCT
  LGYVTLLEETPQDTAYNTKRGIVASILVFLCFGVTQAKDGPFSRPHPAYWRFWLCVSVVYELFLIFILFQTVQDG
  RQFLKYVDPKLGVPLPERDYGGNCLIYDPDNETDPFHNIWDKLDGFVPAHFLGWYLKTLMIRDWWMCMIISVMFE
  FLEYSLEHQLPNFSECWWDHWIMDVLVCNGLGIYCGMKTLEWLSLKTYKWQGLWNIPTYKGKMKRIAFQFTPYSW
  VRFEWKPASSLRRWLAVCGIILVFLLAELNTFYLKFVLWMPPEHYLVLLRLVFFVNVGGVAMREIYDFMDDPKPH
  KKLGPQAWLVAAITATELLIVVKYDPHTLTLSLPFYISQCWTLGSVLALTWTVWRFFLRDITLRYKETRWQKWQN
  KDDQGSTVGNGDQHPLGLDEDLLGPGVAEGEGAPTPN

• Structural information:
  • Interpro: IPR004277  
  • STRING: ENSP00000308258
• Other Databases: GeneCards:  PTDSS2  Malacards:  PTDSS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0006659	phosphatidylserine biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0106245	L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IEA	molecular function
GO:0106245	L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IDA	molecular function
GO:0006659	phosphatidylserine biosynthetic process	IDA	biological process
GO:0006659	phosphatidylserine biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016740	transferase activity	TAS	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006659	phosphatidylserine biosynthetic process	IEA	biological process
GO:0003882	CDP-diacylglycerol-serine O-phosphatidyltransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006659	phosphatidylserine biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R