Aliases for PCTP Gene

Aliases for PCTP Gene

  • Phosphatidylcholine Transfer Protein 2 3 4 5
  • STARD2 2 3 4
  • StAR-Related Lipid Transfer (START) Domain Containing 2 2 3
  • StAR-Related Lipid Transfer Protein 2 3 4
  • START Domain-Containing Protein 2 3 4
  • PC-TP 3 4
  • StARD2 4
  • PCTP 5

External Ids for PCTP Gene

Previous GeneCards Identifiers for PCTP Gene

  • GC17P053563
  • GC17P056309
  • GC17P054170
  • GC17P054303
  • GC17P054302
  • GC17P051183
  • GC17P053828
  • GC17P049187

Summaries for PCTP Gene

GeneCards Summary for PCTP Gene

PCTP (Phosphatidylcholine Transfer Protein) is a Protein Coding gene. Diseases associated with PCTP include Leukoencephalopathy With Vanishing White Matter. Among its related pathways are Synthesis of PC and Metabolism. Gene Ontology (GO) annotations related to this gene include lipid binding and phosphatidylcholine transporter activity. An important paralog of this gene is STARD7.

UniProtKB/Swiss-Prot Summary for PCTP Gene

  • Catalyzes the transfer of phosphatidylcholine between membranes. Binds a single lipid molecule.

Gene Wiki entry for PCTP Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCTP Gene

Genomics for PCTP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PCTP 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
GH17J055750 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 609.7 +0.4 422 2.4 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 IKZF1 CTCF ZNF692 RCOR2 ZNF7 PCTP MMD piR-43017 ANKFN1
GH17J055730 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.4 -18.8 -18813 2.5 PRDM10 REST ZNF629 JUND PRDM1 ZIC2 ZSCAN4 PKNOX1 PATZ1 SP1 TMEM100 lnc-SMIM36-8 PCTP
GH17J055705 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 600.3 -43.7 -43678 3.4 CREB1 CEBPA CTBP1 FOXA2 ZSCAN5C LEF1 ATF3 YY1 MEF2D PKNOX1 PCTP TMEM100 piR-36546 lnc-SMIM36-8 SMIM36
GH17J055688 Promoter 0.5 EPDnew 600.2 -62.7 -62652 0.1 KLF1 EGR2 lnc-TMEM100-3 PCTP TMEM100 piR-59928-065 SMIM36
GH17J055760 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.2 +11.4 11422 5.2 GATAD2A REST TFE3 FOXA1 RXRB SP1 KMT2B SOX13 HES1 HMBOX1 TMEM100 PCTP piR-43017 ANKFN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCTP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCTP

Top Transcription factor binding sites by QIAGEN in the PCTP gene promoter:
  • AML1a
  • c-Myb
  • C/EBPalpha
  • Cdc5
  • GATA-1
  • GATA-2
  • GATA-3
  • Gfi-1
  • POU2F1
  • POU2F1a

Genomic Locations for PCTP Gene

Genomic Locations for PCTP Gene
94,023 bases
Plus strand
91,852 bases
Plus strand

Genomic View for PCTP Gene

Genes around PCTP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PCTP Gene

Proteins for PCTP Gene

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

    Protein Symbol:
    Recommended name:
    Phosphatidylcholine transfer protein
    Protein Accession:
    Secondary Accessions:
    • Q9BSC9
    • Q9UIT3
    • Q9UKW7

    Protein attributes for PCTP Gene

    214 amino acids
    Molecular mass:
    24843 Da
    Quaternary structure:
    • Interacts with ACOT13/THEM2.
    • Sequence=AAH05112.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PCTP Gene

    Alternative splice isoforms for PCTP Gene


neXtProt entry for PCTP Gene

Post-translational modifications for PCTP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PCTP
  • Santa Cruz Biotechnology (SCBT) Antibodies for PCTP

No data available for DME Specific Peptides for PCTP Gene

Domains & Families for PCTP Gene

Gene Families for PCTP Gene

Protein Domains for PCTP Gene

Suggested Antigen Peptide Sequences for PCTP Gene

GenScript: Design optimal peptide antigens:
  • StAR-related lipid transfer protein 2 (PPCT_HUMAN)
  • cDNA, FLJ95327, highly similar to Homo sapiens phosphatidylcholine transfer protein (PCTP), mRNA (Q549N3_HUMAN)
genes like me logo Genes that share domains with PCTP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PCTP Gene

Function for PCTP Gene

Molecular function for PCTP Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of phosphatidylcholine between membranes. Binds a single lipid molecule.
GENATLAS Biochemistry:
phosphatidylcholine transfer protein,cytosolic protein catalyzing intermembrane transfer of phosphatidylcholines in vitro

Phenotypes From GWAS Catalog for PCTP Gene

Gene Ontology (GO) - Molecular Function for PCTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008289 lipid binding IEA --
GO:0008525 phosphatidylcholine transporter activity TAS 10500206
GO:0031210 phosphatidylcholine binding IDA 12055623
genes like me logo Genes that share ontologies with PCTP: view
genes like me logo Genes that share phenotypes with PCTP: view

Animal Models for PCTP Gene

MGI Knock Outs for PCTP:

Animal Model Products

CRISPR Products

miRNA for PCTP Gene

miRTarBase miRNAs that target PCTP

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCTP

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCTP Gene

Localization for PCTP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCTP 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 PCTP gene
Compartment Confidence
cytosol 5
extracellular 2
mitochondrion 2
nucleus 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS 12055623
genes like me logo Genes that share ontologies with PCTP: view

Pathways & Interactions for PCTP Gene

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

Gene Ontology (GO) - Biological Process for PCTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0006869 lipid transport NAS 10542325
GO:0015914 phospholipid transport IDA 12055623
GO:0120163 negative regulation of cold-induced thermogenesis ISS 19502644
genes like me logo Genes that share ontologies with PCTP: view

No data available for SIGNOR curated interactions for PCTP Gene

Drugs & Compounds for PCTP Gene

(3) Drugs for PCTP Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Omega-3-carboxylic acids Approved, Investigational Pharma Carrier, binder 0
L-Dilinoleoyllecithin Experimental Pharma Target 0
Palmitoyl-Linoleoyl Phosphatidylcholine Experimental Pharma Target 0

(10) Additional Compounds for PCTP Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (2-Acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-Hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
Phosphatidylcholines Group B
  • 1-Hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine
  • 2-(9Z,12Z-Octadecadienoyl)-1-hexadecyl-sn-glycero-3-phosphocholine
  • PC Ae C34:2
  • PC(16:0E/18:2(9Z,12Z))
  • PC(O-34:2)
Phosphatidylcholines Group C
  • (2R)-2,3-Bis[(1Z)-hexadec-1-en-1-yloxy]propyl 2-(trimethylazaniumyl)ethyl phosphoric acid
  • (2R)-2-[(1Z)-Hexadec-1-en-1-yloxy]-3-[(1Z,11Z)-octadeca-1,11-dien-1-yloxy]propyl 2-(trimethylazaniumyl)ethyl phosphoric acid
  • (2R)-3-[(1Z)-Hexadec-1-en-1-yloxy]-2-[(1Z,11Z)-octadeca-1,11-dien-1-yloxy]propyl 2-(trimethylazaniumyl)ethyl phosphoric acid
  • (2R)-2-[(1Z)-Octadec-1-en-1-yloxy]-3-[(1Z,11Z)-octadeca-1,11-dien-1-yloxy]propyl 2-(trimethylazaniumyl)ethyl phosphoric acid
  • (2R)-3-[(1Z)-Hexadec-1-en-1-yloxy]-2-[(1Z,9Z)-octadeca-1,9-dien-1-yloxy]propyl 2-(trimethylazaniumyl)ethyl phosphoric acid
genes like me logo Genes that share compounds with PCTP: view

Transcripts for PCTP Gene

mRNA/cDNA for PCTP Gene

15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCTP

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - - - - - -
SP2: - - - - -
SP3: - -
SP4: - - - -
SP5: - - -

Relevant External Links for PCTP Gene

GeneLoc Exon Structure for

Expression for PCTP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x6.0).

Protein differential expression in normal tissues from HIPED for PCTP Gene

This gene is overexpressed in Gallbladder (13.3) and Liver (7.1).

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

Protein tissue co-expression partners for PCTP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCTP

SOURCE GeneReport for Unigene cluster for PCTP Gene:


mRNA Expression by UniProt/SwissProt for PCTP Gene:

Tissue specificity: Highest expression in liver, placenta, testis, kidney and heart. Low levels in brain and lung. No expression detected in thymus.

Evidence on tissue expression from TISSUES for PCTP Gene

  • Liver(4.6)
  • Kidney(4.4)
  • Blood(2.2)
  • Heart(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with PCTP: view

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

Orthologs for PCTP Gene

This gene was present in the common ancestor of animals.

Orthologs for PCTP Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCTP 30 31
  • 99.07 (n)
(Canis familiaris)
Mammalia PCTP 30 31
  • 86.6 (n)
(Bos Taurus)
Mammalia PCTP 30 31
  • 85.53 (n)
-- 31
  • 59 (a)
-- 31
  • 58 (a)
-- 31
  • 53 (a)
(Mus musculus)
Mammalia Pctp 30 17 31
  • 83.33 (n)
(Rattus norvegicus)
Mammalia Pctp 30
  • 82.87 (n)
(Ornithorhynchus anatinus)
Mammalia PCTP 31
  • 62 (a)
(Monodelphis domestica)
Mammalia PCTP 31
  • 61 (a)
(Gallus gallus)
Aves PCTP 30 31
  • 70.87 (n)
(Anolis carolinensis)
Reptilia PCTP 31
  • 48 (a)
(Danio rerio)
Actinopterygii pctp 30 31
  • 65.37 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10579 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG6565 31
  • 14 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
Species where no ortholog for PCTP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PCTP Gene

Gene Tree for PCTP (if available)
Gene Tree for PCTP (if available)
Evolutionary constrained regions (ECRs) for PCTP: view image

Paralogs for PCTP Gene

Paralogs for PCTP Gene

(8) SIMAP similar genes for PCTP Gene using alignment to 7 proteins:

  • I3L2M9_HUMAN
  • I3L3H0_HUMAN
  • I3L4Z8_HUMAN
  • J3QT99_HUMAN
  • L8EA98_HUMAN
  • Q549N3_HUMAN
genes like me logo Genes that share paralogs with PCTP: view

Variants for PCTP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCTP Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs12941739 - p.Glu10Ala

Additional dbSNP identifiers (rs#s) for PCTP Gene

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

Variant ID Type Subtype PubMed ID
nsv1076450 CNV duplication 25765185
nsv2100 CNV deletion 18451855

Variation tolerance for PCTP Gene

Residual Variation Intolerance Score: 81.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.75; 93.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCTP Gene

Human Gene Mutation Database (HGMD)
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 PCTP Gene

Disorders for PCTP Gene

MalaCards: The human disease database

(1) MalaCards diseases for PCTP Gene - From: DISEASES

Disorder Aliases PubMed IDs
leukoencephalopathy with vanishing white matter
  • cle
- elite association - COSMIC cancer census association via MalaCards
Search PCTP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PCTP

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PCTP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCTP Gene

Publications for PCTP Gene

  1. Human phosphatidylcholine transfer protein: purification, crystallization and preliminary X-ray diffraction data. (PMID: 11983415) Chan WW … Cohen DE (Biochimica et biophysica acta 2002) 3 4 23
  2. Cloning, tissue-specific expression, gene structure and chromosomal localization of human phosphatidylcholine transfer protein. (PMID: 10542325) Cohen DE … Beier DR (Biochimica et biophysica acta 1999) 3 4 23
  3. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 41
  4. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PMID: 19170196) Shen M … Lan Q (Environmental and molecular mutagenesis 2009) 3 41
  5. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PMID: 19625176) Hosgood HD … Lan Q (Respiratory medicine 2009) 3 41

Products for PCTP Gene

  • Signalway Proteins for PCTP

Sources for PCTP Gene