Free for academic non-profit institutions. Other users need a Commercial license

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 2.7.7.14 4 61
  • Ethanolamine-Phosphate Cytidylyltransferase 3
  • EC 2.7.7 61
  • 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 Metabolism and Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics. 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.

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

Genomics for PCYT2 Gene

Regulatory Elements for PCYT2 Gene

Enhancers for PCYT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F081682 1.1 ENCODE 11.3 +227.3 227323 3.5 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 FOS CEBPZ ARL16 ALYREF CCDC137 PDE6G NPLOC4 TSPAN10 P4HB GCGR MCRIP1 PPP1R27
GH17F081980 1 Ensembl ENCODE 11.7 -69.4 -69438 1.3 HDAC1 TFAP4 ESRRA ZIC2 HIC1 GATA3 NR2F6 FOS HES1 FOXA3 MYADML2 PYCR1 LOC105371938 MAFG SIRT7 PCYT2 NPB ALYREF ANAPC11 DCXR
GH17F082011 0.9 ENCODE 11.5 -102.0 -101981 3.3 ELF3 ARID4B THRB RAD21 RARA GLIS2 ZNF143 PAF1 ZNF263 ZNF654 CENPX DCXR ASPSCR1 MYADML2 LOC105371938 PYCR1 MAFG SIRT7 PCYT2 NPB
GH17F081984 0.8 FANTOM5 11.7 -73.4 -73432 0.2 KLF1 MXI1 ESRRA INSM2 GLI4 CDC5L ZNF2 ZFHX2 CTBP1 POLR2A MYADML2 LOC105371938 PYCR1 MAFG SIRT7 PCYT2 NPB ALYREF ANAPC11 DCXR
GH17F081675 0.8 Ensembl 11.2 +235.3 235303 0.6 CTCF PKNOX1 HINFP KLF17 SIN3A RAD21 ZNF2 GLIS2 FOXK2 SCRT2 ARL16 CCDC137 NPLOC4 TSPAN10 GCGR MCRIP1 PPP1R27 ALYREF ANAPC11 NPB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCYT2 on UCSC Golden Path with GeneCards custom track

Promoters for PCYT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001355459 177 1401 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 ZNF2 ZNF121 SLC30A9 GLIS2

Genomic Location for PCYT2 Gene

Chromosome:
17
Start:
81,900,965 bp from pter
End:
81,911,477 bp from pter
Size:
10,513 bases
Orientation:
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:
    Q99447-PCY2_HUMAN
    Recommended name:
    Ethanolamine-phosphate cytidylyltransferase
    Protein Accession:
    Q99447
    Secondary Accessions:
    • B7Z7A5
    • B7ZAS0
    • F5H8B1
    • Q6IBM3
    • Q96G08

    Protein attributes for PCYT2 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for PCYT2 Gene

Selected DME Specific Peptides for PCYT2 Gene

Q99447:
  • VGVHTDEEIAK
  • WVDEVVP
  • NCDFCVHG
  • PIMNLHER
  • LTTDLIVQRII
  • GDYLIVG
  • HFKVDLVCHGKTE

Post-translational modifications for PCYT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PCYT2 Gene

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

Q99447

UniProtKB/Swiss-Prot:

PCY2_HUMAN :
  • Belongs to the cytidylyltransferase family.
Family:
  • Belongs to the cytidylyltransferase family.
genes like me logo Genes that share domains with PCYT2: view

No data available for Gene Families for PCYT2 Gene

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

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

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for PCYT2 Gene

Subcellular locations from

COMPARTMENTS
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

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 613
Cytidine triphosphate Experimental Pharma 0
O-Phosphoethanolamine 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
  • CDP-Ethanolamine
  • CDPethanolamine
  • Cytidine diphosphate ethanolamine
3036-18-8
Ciliatine
  • beta-Aminoethylphosphonic acid
  • (2-Aminoethane)phosphonic acid
  • (2-aminoethyl)phosphonate
  • (2-Aminoethyl)phosphonic acid
  • 2-Aminoethylphosphonate
2041-14-7
CMP-2-aminoethylphosphonate
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

Inhibitory RNA Products

Flow Cytometry Products

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: - -
SP16:
SP17:
SP18:
SP19:

ExUns: 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c · 18d · 18e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - - - -
SP15:
SP16:
SP17:
SP18: - -
SP19:

Relevant External Links for PCYT2 Gene

GeneLoc Exon Structure for
PCYT2
ECgene alternative splicing isoforms for
PCYT2

Expression for PCYT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

PCYT2

SOURCE GeneReport for Unigene cluster for PCYT2 Gene:

Hs.569843

mRNA Expression by UniProt/SwissProt for PCYT2 Gene:

Q99447-PCY2_HUMAN
Tissue specificity: Strongest expression in liver, heart, and skeletal muscle.
genes like me logo Genes that share expression patterns with PCYT2: view

Orthologs for PCYT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PCYT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCYT2 34 35
  • 99.18 (n)
cow
(Bos Taurus)
Mammalia PCYT2 34 35
  • 88.86 (n)
dog
(Canis familiaris)
Mammalia PCYT2 34 35
  • 88.17 (n)
rat
(Rattus norvegicus)
Mammalia Pcyt2 34
  • 87.71 (n)
mouse
(Mus musculus)
Mammalia Pcyt2 34 16 35
  • 87.38 (n)
oppossum
(Monodelphis domestica)
Mammalia PCYT2 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCYT2 35
  • 33 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCYT2 35
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCYT2 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcyt2 34
  • 70.78 (n)
zebrafish
(Danio rerio)
Actinopterygii pcyt2 34 35
  • 72.96 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009264 34
  • 65.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pect 36 34 35
  • 62.26 (n)
worm
(Caenorhabditis elegans)
Secernentea Y37E3.11 36 34 35
  • 58.74 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECT1 35 37
  • 37 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons PECT1 34
  • 53.39 (n)
rice
(Oryza sativa)
Liliopsida Os12g0121300 34
  • 54.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6745 35
  • 59 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04289 34
  • 53.98 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC15E1.05c 34
  • 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

ENSEMBL:
Gene Tree for PCYT2 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs111226512 -- 81,907,568(+) ACTGT(C/T)TGCAT reference, missense, utr-variant-5-prime
rs111282936 -- 81,908,734(+) TCCGC(A/G)TGCCC intron-variant
rs111404917 -- 81,906,625(+) CTCCC(C/T)GCCAT intron-variant
rs111682906 -- 81,905,072(+) TGTTG(A/G)TGATG reference, missense
rs111897318 -- 81,900,717(+) TGTGT(A/G)CCTCT intron-variant, downstream-variant-500B, upstream-variant-2KB

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

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

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)

Relevant External Links for PCYT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCYT2

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

Disorders for PCYT2 Gene

Relevant External Links for PCYT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 1997) 2 3 4 22 64
  2. Stimulation of the human CTP:phosphoethanolamine cytidylyltransferase gene by early growth response protein 1. (PMID: 18583706) Zhu L. … Bakovic M. (J. Lipid Res. 2008) 3 22 64
  3. Metabolic and molecular aspects of ethanolamine phospholipid biosynthesis: the role of CTP:phosphoethanolamine cytidylyltransferase (Pcyt2). (PMID: 17612623) Bakovic M. … Michel V. (Biochem. Cell Biol. 2007) 3 22 64
  4. Characterization of transcription factors and cis-acting elements that regulate human CTP: phosphoethanolamine cytidylyltransferase (Pcyt2). (PMID: 16023412) Johnson C.M. … Bakovic M. (Biochim. Biophys. Acta 2005) 3 22 64
  5. Genomic organization and differential splicing of the mouse and human Pcyt2 genes. (PMID: 14697519) Poloumienko A. … Bakovic M. (Gene 2004) 3 22 64

Products for PCYT2 Gene

Sources for PCYT2 Gene

Content
Loading form....