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Aliases for PCYT2 Gene

Aliases for PCYT2 Gene

  • Phosphate Cytidylyltransferase 2, Ethanolamine 2 3 5
  • CTP:Phosphoethanolamine Cytidylyltransferase 2 3 4
  • Phosphorylethanolamine Transferase 3 4
  • EC 4 56
  • Ethanolamine-Phosphate Cytidylyltransferase 3
  • EC 2.7.7 56
  • ET 3

External Ids for PCYT2 Gene

Previous GeneCards Identifiers for PCYT2 Gene

  • GC17M079354
  • GC17M9I0165
  • GC17M080397
  • GC17M9I0540
  • GC17M9I7455
  • GC17M077455
  • GC17M079862
  • GC17M075262

Summaries for PCYT2 Gene

Entrez Gene Summary for PCYT2 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]

GeneCards Summary for PCYT2 Gene

PCYT2 (Phosphate Cytidylyltransferase 2, Ethanolamine) is a Protein Coding gene. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include ethanolamine-phosphate cytidylyltransferase activity.

UniProtKB/Swiss-Prot for PCYT2 Gene

  • Plays an important role in the biosynthesis of the phospholipid phosphatidylethanolamine. Catalyzes the formation of CDP-ethanolamine.

Additional gene information for PCYT2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCYT2 Gene

Genomics for PCYT2 Gene

GeneHancer (GH) Regulatory Elements for PCYT2 Gene

Promoters and enhancers for PCYT2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I081908 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.3 318 6 HDGF FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 PCYT2 MAFG ENSG00000235296 PYCR1 MYADML2 GCGR PIR61559 SIRT7
GH17I081682 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.3 +227.3 227323 3.5 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B ZNF213 ARL16 HGS ALYREF FOXK2 LOC105371942 CCDC137 PDE6G NPLOC4 TSPAN10 P4HB
GH17I082011 Enhancer 0.8 ENCODE 11.5 -102.0 -101981 3.3 ELF3 SOX13 CTCF TFAP4 SAP130 ZNF449 ZIC2 RAD21 THRB RARA CENPX DCXR ASPSCR1 MYADML2 ENSG00000235296 PYCR1 MAFG SIRT7 PCYT2 NPB
GH17I081984 Enhancer 0.7 FANTOM5 11.7 -73.4 -73432 0.2 KLF1 MXI1 ZSCAN4 INSM2 GLI4 CDC5L ZNF2 ZFHX2 POLR2A EGR1 MYADML2 PYCR1 ENSG00000235296 MAFG SIRT7 PCYT2 NPB ALYREF ANAPC11 DCXR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCYT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCYT2 gene promoter:

Genomic Locations for PCYT2 Gene

Genomic Locations for PCYT2 Gene
10,513 bases
Minus strand

Genomic View for PCYT2 Gene

Genes around PCYT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCYT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCYT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCYT2 Gene

Proteins for PCYT2 Gene

  • Protein details for PCYT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ethanolamine-phosphate cytidylyltransferase
    Protein Accession:
    Secondary Accessions:
    • B7Z7A5
    • B7ZAS0
    • F5H8B1
    • Q6IBM3
    • Q96G08

    Protein attributes for PCYT2 Gene

    389 amino acids
    Molecular mass:
    43835 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PCYT2 Gene

    Alternative splice isoforms for PCYT2 Gene


neXtProt entry for PCYT2 Gene

Selected DME Specific Peptides for PCYT2 Gene


Post-translational modifications for PCYT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PCYT2 Gene

Gene Families for PCYT2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PCYT2 Gene

Suggested Antigen Peptide Sequences for PCYT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytidylyltransferase family.
  • Belongs to the cytidylyltransferase family.
genes like me logo Genes that share domains with PCYT2: view

Function for PCYT2 Gene

Molecular function for PCYT2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CTP + ethanolamine phosphate = diphosphate + CDP-ethanolamine.
UniProtKB/Swiss-Prot Function:
Plays an important role in the biosynthesis of the phospholipid phosphatidylethanolamine. Catalyzes the formation of CDP-ethanolamine.

Enzyme Numbers (IUBMB) for PCYT2 Gene

Phenotypes From GWAS Catalog for PCYT2 Gene

Gene Ontology (GO) - Molecular Function for PCYT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004306 ethanolamine-phosphate cytidylyltransferase activity TAS 9083101
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
genes like me logo Genes that share ontologies with PCYT2: view
genes like me logo Genes that share phenotypes with PCYT2: view

Animal Models for PCYT2 Gene

MGI Knock Outs for PCYT2:

Animal Model Products

Clone Products

  • Addgene plasmids for PCYT2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCYT2 Gene

Localization for PCYT2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCYT2 gene
Compartment Confidence
endoplasmic reticulum 5
cytoskeleton 3
cytosol 3
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Intermediate filaments (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCYT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with PCYT2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PCYT2 Gene

Pathways & Interactions for PCYT2 Gene

genes like me logo Genes that share pathways with PCYT2: view

UniProtKB/Swiss-Prot Q99447-PCY2_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 2/3.

Gene Ontology (GO) - Biological Process for PCYT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006646 phosphatidylethanolamine biosynthetic process TAS --
GO:0008654 phospholipid biosynthetic process TAS 9083101
GO:0009058 biosynthetic process IEA --
genes like me logo Genes that share ontologies with PCYT2: view

No data available for SIGNOR curated interactions for PCYT2 Gene

Drugs & Compounds for PCYT2 Gene

(5) Drugs for PCYT2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lamivudine Approved, Investigational Pharma Enzyme, substrate Nucleoside analog reverse transcriptase inhibitor 638
Cytidine triphosphate Experimental Pharma 0
Phosphorylcolamine Experimental Pharma 0

(6) Additional Compounds for PCYT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • CDP Ethanolamine
  • CDP-Ethanolamine
  • CDPethanolamine
  • Cytidine diphosphate ethanolamine
  • beta-Aminoethylphosphonic acid
  • (2-Aminoethane)phosphonic acid
  • (2-aminoethyl)phosphonate
  • (2-Aminoethyl)phosphonic acid
  • 2-Aminoethylphosphonate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
genes like me logo Genes that share compounds with PCYT2: view

Transcripts for PCYT2 Gene

Unigene Clusters for PCYT2 Gene

Phosphate cytidylyltransferase 2, ethanolamine:
Representative Sequences:

Clone Products

  • Addgene plasmids for PCYT2

Alternative Splicing Database (ASD) splice patterns (SP) for PCYT2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - -
SP4: - - - - - - - -
SP5: - - - - - - - - - - - -
SP6: - - - -
SP7: - - - - - - - - - -
SP8: -
SP9: - - - - - -
SP10: -
SP11: - - - - - - -
SP12: - - - -
SP13: -
SP14: - - - - - - - - - - - - - - - - -
SP15: - -

ExUns: 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c · 18d · 18e
SP8: - -
SP14: - - - - -
SP18: - -

Relevant External Links for PCYT2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCYT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCYT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCYT2 Gene

This gene is overexpressed in Testis (x8.4).

Protein differential expression in normal tissues from HIPED for PCYT2 Gene

This gene is overexpressed in Gallbladder (6.3) and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCYT2 Gene

Protein tissue co-expression partners for PCYT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCYT2 Gene:


SOURCE GeneReport for Unigene cluster for PCYT2 Gene:


mRNA Expression by UniProt/SwissProt for PCYT2 Gene:

Tissue specificity: Strongest expression in liver, heart, and skeletal muscle.

Evidence on tissue expression from TISSUES for PCYT2 Gene

  • Liver(4.5)
  • Muscle(4.3)
  • Nervous system(3.5)
  • Intestine(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with PCYT2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PCYT2 Gene

Orthologs for PCYT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PCYT2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCYT2 33 34
  • 99.18 (n)
(Bos Taurus)
Mammalia PCYT2 33 34
  • 88.86 (n)
(Canis familiaris)
Mammalia PCYT2 33 34
  • 88.17 (n)
(Rattus norvegicus)
Mammalia Pcyt2 33
  • 87.71 (n)
(Mus musculus)
Mammalia Pcyt2 33 16 34
  • 87.38 (n)
(Monodelphis domestica)
Mammalia PCYT2 34
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia PCYT2 34
  • 33 (a)
(Gallus gallus)
Aves PCYT2 34
  • 83 (a)
(Anolis carolinensis)
Reptilia PCYT2 34
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pcyt2 33
  • 70.78 (n)
(Danio rerio)
Actinopterygii pcyt2 33 34
  • 72.96 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009264 33
  • 65.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pect 35 33 34
  • 62.26 (n)
(Caenorhabditis elegans)
Secernentea Y37E3.11 35 33 34
  • 58.74 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECT1 34 36
  • 37 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PECT1 33
  • 53.39 (n)
(Oryza sativa)
Liliopsida Os12g0121300 33
  • 54.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6745 34
  • 59 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04289 33
  • 53.98 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC15E1.05c 33
  • 44.68 (n)
Species where no ortholog for PCYT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCYT2 Gene

Gene Tree for PCYT2 (if available)
Gene Tree for PCYT2 (if available)

Paralogs for PCYT2 Gene

(1) SIMAP similar genes for PCYT2 Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with PCYT2: view

No data available for Paralogs for PCYT2 Gene

Variants for PCYT2 Gene

Sequence variations from dbSNP and Humsavar for PCYT2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000005344 -- 81,910,839(-) G/A intron_variant
rs1000057746 -- 81,910,701(-) C/T intron_variant
rs1000430804 -- 81,902,767(-) A/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs1000641262 -- 81,907,025(-) ACACAC/AC 5_prime_UTR_variant, intron_variant
rs1000738479 -- 81,911,673(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PCYT2 Gene

Variant ID Type Subtype PubMed ID
esv21913 CNV gain+loss 19812545
esv2716461 CNV deletion 23290073
esv29964 CNV loss 17803354
esv33468 CNV loss 17666407
nsv1144821 CNV deletion 24896259
nsv428351 CNV gain 18775914
nsv470620 CNV loss 18288195
nsv833569 CNV loss 17160897
nsv952392 CNV deletion 24416366

Variation tolerance for PCYT2 Gene

Residual Variation Intolerance Score: 37.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCYT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCYT2 Gene

Disorders for PCYT2 Gene

Additional Disease Information for PCYT2

No disorders were found for PCYT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCYT2 Gene

Publications for PCYT2 Gene

  1. Cloning of a human cDNA for CTP-phosphoethanolamine cytidylyltransferase by complementation in vivo of a yeast mutant. (PMID: 9083101) Nakashima A … Nikawa J (The Journal of biological chemistry 1997) 2 3 4 22 58
  2. Stimulation of the human CTP:phosphoethanolamine cytidylyltransferase gene by early growth response protein 1. (PMID: 18583706) Zhu L … Bakovic M (Journal of lipid research 2008) 3 22 58
  3. Metabolic and molecular aspects of ethanolamine phospholipid biosynthesis: the role of CTP:phosphoethanolamine cytidylyltransferase (Pcyt2). (PMID: 17612623) Bakovic M … Michel V (Biochemistry and cell biology = Biochimie et biologie cellulaire 2007) 3 22 58
  4. Characterization of transcription factors and cis-acting elements that regulate human CTP: phosphoethanolamine cytidylyltransferase (Pcyt2). (PMID: 16023412) Johnson CM … Bakovic M (Biochimica et biophysica acta 2005) 3 22 58
  5. Genomic organization and differential splicing of the mouse and human Pcyt2 genes. (PMID: 14697519) Poloumienko A … Bakovic M (Gene 2004) 3 22 58

Products for PCYT2 Gene

  • Addgene plasmids for PCYT2

Sources for PCYT2 Gene

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