PLTP (phospholipid transfer protein)

2010-11-01  

Identity

HGNC
LOCATION
20q13.12
LOCUSID
ALIAS
BPIFE,HDLCQ9

Other Information

Locus ID:

NCBI: 5360
MIM: 172425
HGNC: 9093
Ensembl: ENSG00000100979

Variants:

dbSNP: 5360
ClinVar: 5360
TCGA: ENSG00000100979
COSMIC: PLTP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100979ENST00000354050P55058
ENSG00000100979ENST00000372420P55058
ENSG00000100979ENST00000372431P55058
ENSG00000100979ENST00000420868P55058
ENSG00000100979ENST00000477313P55058

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
PPAR signaling pathwayKEGGko03320
PPAR signaling pathwayKEGGhsa03320
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
HDL-mediated lipid transportREACTOMER-HSA-194223

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA24887APOA4GenePathwayassociated
PA49APOA1GenePathwayassociated

References

Pubmed IDYearTitleCitations
190609062009Common variants at 30 loci contribute to polygenic dyslipidemia.552
207143482010Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.246
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
208054532010Molecular anatomy of breast cancer stroma and its prognostic value in estrogen receptor-positive and -negative cancers.81
126120882003The phospholipid transfer protein gene is a liver X receptor target expressed by macrophages in atherosclerotic lesions.35
206440142010Genetic variation at the phospholipid transfer protein locus affects its activity and high-density lipoprotein size and is a novel marker of cardiovascular disease susceptibility.30
217369532012Role of plasma phospholipid transfer protein in lipid and lipoprotein metabolism.28
208555652010Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.27
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
205717542010Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.26

Citation

Dessen P

PLTP (phospholipid transfer protein)

Atlas Genet Cytogenet Oncol Haematol. 2010-11-01

Online version: http://atlasgeneticsoncology.org/gene/51749/pltp