• Gene id: 5833

Gene Summary

• Gene Symbol: PCYT2   Gene   UCSC   Ensembl
• Aliases: ET, SPG82
• Gene name: phosphate cytidylyltransferase 2, ethanolamine
• Alternate names: ethanolamine-phosphate cytidylyltransferase, CTP:phosphoethanolamine cytidylyltransferase, phosphorylethanolamine transferase,
• Gene location: 17q25.3 (81911431: 81900957)     Exons: 4     NC_000017.11
• Gene summary(Entrez): This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
• OMIM: 602679

Protein Summary

• Protein general information: Q99447  
  • Name: Ethanolamine phosphate cytidylyltransferase (EC 2.7.7.14) (CTP:phosphoethanolamine cytidylyltransferase) (Phosphorylethanolamine transferase)
  • Length: 389  
  • Mass: 43835
  • Tissue specificity: Strongest expression in liver, heart, and skeletal muscle.
• Sequence:

  MIRNGRGAAGGAEQPGPGGRRAVRVWCDGCYDMVHYGHSNQLRQARAMGDYLIVGVHTDEEIAKHKGPPVFTQEE
  RYKMVQAIKWVDEVVPAAPYVTTLETLDKYNCDFCVHGNDITLTVDGRDTYEEVKQAGRYRECKRTQGVSTTDLV
  GRMLLVTKAHHSSQEMSSEYREYADSFGKCPGGRNPWTGVSQFLQTSQKIIQFASGKEPQPGETVIYVAGAFDLF
  HIGHVDFLEKVHRLAERPYIIAGLHFDQEVNHYKGKNYPIMNLHERTLSVLACRYVSEVVIGAPYAVTAELLSHF
  KVDLVCHGKTEIIPDRDGSDPYQEPKRRGIFRQIDSGSNLTTDLIVQRIITNRLEYEARNQKKEAKELAFLEAAR
  QQAAQPLGERDGDF

• Structural information:
  • Interpro: IPR041723  IPR004821  IPR014729  
  • CDD: cd02174
  • PDB: 3ELB 4XSV
  • PDBsum: 3ELB 4XSV
  • STRING: ENSP00000442050
• Other Databases: GeneCards:  PCYT2  Malacards:  PCYT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009058	biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0004306	ethanolamine-phosphate cytidylyltransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006646	phosphatidylethanolamine biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004306	ethanolamine-phosphate cytidylyltransferase activity	IEA	molecular function
GO:0006646	phosphatidylethanolamine biosynthetic process	IEA	biological process
GO:0008654	phospholipid biosynthetic process	TAS	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0004306	ethanolamine-phosphate cytidylyltransferase activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism
hsa00440	Phosphonate and phosphinate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 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