Gene Gene information from NCBI Gene database.
Entrez ID 58488
Gene name Phosphatidylcholine transfer protein
Gene symbol PCTP
Synonyms (NCBI Gene)
PC-TPSTARD2
Chromosome 17
Chromosome location 17q22
miRNA miRNA information provided by mirtarbase database.
466
miRTarBase ID miRNA Experiments Reference
MIRT027775 hsa-miR-98-5p Microarray 19088304
MIRT028326 hsa-miR-32-5p Sequencing 20371350
MIRT054197 hsa-miR-125b-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 22723551
MIRT712667 hsa-miR-5692a HITS-CLIP 19536157
MIRT712665 hsa-miR-5700 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol NAS 10542325
GO:0005829 Component Cytosol TAS 12055623
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606055 8752 ENSG00000141179
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKL6
Protein name Phosphatidylcholine transfer protein (PC-TP) (START domain-containing protein 2) (StARD2) (StAR-related lipid transfer protein 2)
Protein function Catalyzes the transfer of phosphatidylcholine between membranes. Binds a single lipid molecule.
PDB 1LN1 , 1LN2 , 1LN3 , 7U9D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01852 START 10 213 START domain Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in liver, placenta, testis, kidney and heart. Low levels in brain and lung. No expression detected in thymus. {ECO:0000269|PubMed:10542325}.
Sequence
Sequence length 214
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of PC
Mitochondrial Fatty Acid Beta-Oxidation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
TREATMENT-RESISTANT HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cardiovascular Diseases Associate 28676520
★☆☆☆☆
Found in Text Mining only
Death Associate 28676520
★☆☆☆☆
Found in Text Mining only
Hemolytic Uremic Syndrome Associate 22836280
★☆☆☆☆
Found in Text Mining only
Leukemia Erythroblastic Acute Associate 28676520
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Associate 28676520
★☆☆☆☆
Found in Text Mining only
Rectal Neoplasms Associate 37895091
★☆☆☆☆
Found in Text Mining only