Seroatlas · Human Serome Atlas

PCYT2

Ethanolamine-phosphate cytidylyltransferase

Also known as: ET, PCY2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q99447
Gene
PCYT2
Ensembl
ENSG00000185813
Chromosome
17
Canonical length
389 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

389 residues, UniProt reviewed canonical sequence.

>Q99447|PCYT2
     1  MIRNGRGAAG GAEQPGPGGR RAVRVWCDGC YDMVHYGHSN QLRQARAMGD YLIVGVHTDE
    61  EIAKHKGPPV FTQEERYKMV QAIKWVDEVV PAAPYVTTLE TLDKYNCDFC VHGNDITLTV
   121  DGRDTYEEVK QAGRYRECKR TQGVSTTDLV GRMLLVTKAH HSSQEMSSEY REYADSFGKC
   181  PGGRNPWTGV SQFLQTSQKI IQFASGKEPQ PGETVIYVAG AFDLFHIGHV DFLEKVHRLA
   241  ERPYIIAGLH FDQEVNHYKG KNYPIMNLHE RTLSVLACRY VSEVVIGAPY AVTAELLSHF
   301  KVDLVCHGKT EIIPDRDGSD PYQEPKRRGI FRQIDSGSNL TTDLIVQRII TNRLEYEARN
   361  QKKEAKELAF LEAARQQAAQ PLGERDGDF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PCYT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
249 nTPM

Expression across tissuesHPA

Tissue

  • testis: 249 nTPM
  • liver: 163 nTPM
  • duodenum: 60 nTPM
  • spinal cord: 48 nTPM
  • cerebral cortex: 47 nTPM
  • heart muscle: 45 nTPM

Single-cell type

  • late spermatids: 5,103 nCPM
  • late primary spermatocytes: 841 nCPM
  • early spermatids: 730 nCPM
  • hepatocytes: 156 nCPM
  • breast lactating cells: 144 nCPM
  • enterocytes: 131 nCPM

Immune cell

  • naive B-cell: 5.6 nTPM
  • memory CD4 T-cell: 5.5 nTPM
  • memory CD8 T-cell: 4.7 nTPM
  • naive CD8 T-cell: 4.7 nTPM
  • gdT-cell: 4.6 nTPM
  • myeloid DC: 4.6 nTPM

Brain region

  • medulla oblongata: 53 nTPM
  • pons: 53 nTPM
  • cerebellum: 47 nTPM
  • midbrain: 45 nTPM
  • white matter: 45 nTPM
  • spinal cord: 41 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PCYT2.

Disease | AllUniProt

Conditions PCYT2 is implicated in, by any mechanism.

  • Spastic paraplegia 82, autosomal recessive (SPG82) MIM:618770

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 120 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.7
gnomAD pLI
0
gnomAD missense Z
1.73
DepMap mean gene effect
-0.15
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

  • ethanolamine-phosphate cytidylyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PCYT2 as an antibody target. Whether an autoantibody or antibody against PCYT2 could matter depends on whether native PCYT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PCYT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PCYT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PCYT2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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