PCYT2 (phosphate cytidylyltransferase 2, ethanolamine)

2012-08-01  

Identity

HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
ET,SPG82
FUSION GENES

Other Information

Locus ID:

NCBI: 5833
MIM: 602679
HGNC: 8756
Ensembl: ENSG00000185813

Variants:

dbSNP: 5833
ClinVar: 5833
TCGA: ENSG00000185813
COSMIC: PCYT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185813ENST00000331285Q99447
ENSG00000185813ENST00000538721Q99447
ENSG00000185813ENST00000538936Q99447
ENSG00000185813ENST00000570388Q99447
ENSG00000185813ENST00000570391Q99447
ENSG00000185813ENST00000571105I3L1R7
ENSG00000185813ENST00000572157I3NI16
ENSG00000185813ENST00000572473I3L1F9
ENSG00000185813ENST00000572995I3L3V9
ENSG00000185813ENST00000573401I3L102
ENSG00000185813ENST00000573636I3L2Q1
ENSG00000185813ENST00000573927I3L1C4
ENSG00000185813ENST00000576343I3L1L9

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Phosphonate and phosphinate metabolismKEGGko00440
Glycerophospholipid metabolismKEGGko00564
Phosphonate and phosphinate metabolismKEGGhsa00440
Glycerophospholipid metabolismKEGGhsa00564
Metabolic pathwaysKEGGhsa01100
Phosphatidylethanolamine (PE) biosynthesis, ethanolamine => PEKEGGhsa_M00092
Phosphatidylethanolamine (PE) biosynthesis, ethanolamine => PEKEGGM00092
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PEREACTOMER-HSA-1483213

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA450163lamivudineChemicalPathwayassociated

References

Pubmed IDYearTitleCitations
185837062008Stimulation of the human CTP:phosphoethanolamine cytidylyltransferase gene by early growth response protein 1.12
223394182012Breast cancer cells adapt to metabolic stress by increasing ethanolamine phospholipid synthesis and CTP:ethanolaminephosphate cytidylyltransferase-Pcyt2 activity.8
160234122005Characterization of transcription factors and cis-acting elements that regulate human CTP: phosphoethanolamine cytidylyltransferase (Pcyt2).4
245199462014Isoform-specific and protein kinase C-mediated regulation of CTP:phosphoethanolamine cytidylyltransferase phosphorylation.2
248024092014Human CTP:phosphoethanolamine cytidylyltransferase: enzymatic properties and unequal catalytic roles of CTP-binding motifs in two cytidylyltransferase domains.2
316374222019Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.1

Citation

Dessen P

PCYT2 (phosphate cytidylyltransferase 2, ethanolamine)

Atlas Genet Cytogenet Oncol Haematol. 2012-08-01

Online version: http://atlasgeneticsoncology.org/gene/52792/pcyt2