Gene Gene information from NCBI Gene database.
Entrez ID 5360
Gene name Phospholipid transfer protein
Gene symbol PLTP
Synonyms (NCBI Gene)
BPIFEHDLCQ9
Chromosome 20
Chromosome location 20q13.12
Summary The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of
miRNA miRNA information provided by mirtarbase database.
94
miRTarBase ID miRNA Experiments Reference
MIRT017519 hsa-miR-335-5p Microarray 18185580
MIRT2456715 hsa-miR-1225-5p CLIP-seq
MIRT2456716 hsa-miR-1321 CLIP-seq
MIRT2456717 hsa-miR-184 CLIP-seq
MIRT2456718 hsa-miR-1915 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NR1H4 Unknown 10998425
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005576 Component Extracellular region IDA 19321130
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS 7654777
GO:0005615 Component Extracellular space HDA 16502470
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
172425 9093 ENSG00000100979
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55058
Protein name Phospholipid transfer protein (Lipid transfer protein II)
Protein function Mediates the transfer of phospholipids and free cholesterol from triglyceride-rich lipoproteins (low density lipoproteins or LDL and very low density lipoproteins or VLDL) into high-density lipoproteins (HDL) as well as the exchange of phospholi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01273 LBP_BPI_CETP 30 202 LBP / BPI / CETP family, N-terminal domain Family
PF02886 LBP_BPI_CETP_C 228 464 LBP / BPI / CETP family, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highest level of expression in the ovary, thymus and placenta, with moderate levels found in the pancreas, small intestine, testis, lung and prostrate. Low level expression in the kidney, liver and spleen, with very l
Sequence
Sequence length 493
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  PPAR signaling pathway
Cholesterol metabolism
  HDL remodeling
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Likely benign rs368148295 RCV005925554
Hepatocellular carcinoma Uncertain significance rs142277281 RCV005936615
Ovarian serous cystadenocarcinoma Benign rs200290139 RCV005928520
PLTP-related disorder Likely benign rs370035568, rs559294797, rs571253767, rs752967608, rs772838662, rs61731059 RCV003948772
RCV003946740
RCV003952133
RCV003951655
RCV003961488
RCV003956677
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 36544145
Adenocarcinoma of Lung Associate 37880277
Aortic Valve Disease Associate 27250500
Aortic Valve Stenosis Associate 35341274
Arthritis Rheumatoid Associate 29565987
Atherosclerosis Associate 19446293, 19965587, 25710294, 29565987, 32641418
Atrial Fibrillation Associate 32197906
Blindness Associate 27605007
Cachexia Associate 27879288
Carcinoma Hepatocellular Associate 38022651