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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age related macular degeneration Age-related macular degeneration BEFREE 27605007
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 30618663
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 30618663
★☆☆☆☆
Found in Text Mining only
Aortic Valve Disease Aortic valve disease Pubtator 27250500 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic Valve Sclerosis BEFREE 20382708
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic valve stenosis Pubtator 35341274 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 12086920, 15258196, 15694928, 16935026, 17761633, 18421000, 19100548, 19965587, 21252068, 21736953, 22037227, 28012603, 28596518, 29438986, 29565987
View all (2 more)
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 29565987
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 29565987 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 12086920, 15258196, 15694928, 16935026, 17761633, 18421000, 19100548, 19965587, 21252068, 21736953, 22037227, 28012603, 28596518, 29438986, 29565987
View all (2 more)
★☆☆☆☆
Found in Text Mining only