LPL (lipoprotein lipase)

2007-02-01  

Identity

HGNC
LPL
LOCATION
8p21.3
LOCUSID
4023
ALIAS
HDLCQ11,LIPD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4023
MIM: 609708
HGNC: 6677
Ensembl: ENSG00000175445

Variants:

dbSNP: 4023
ClinVar: 4023
TCGA: ENSG00000175445
COSMIC: LPL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175445ENST00000519773E5RJZ4
ENSG00000175445ENST00000520959E7EW14
ENSG00000175445ENST00000522701E5RHN7
ENSG00000175445ENST00000524029E5RJI0
ENSG00000175445ENST00000650287P06858
ENSG00000175445ENST00000650287A0A1B1RVA9
ENSG00000175445ENST00000650478A0A3B3IT60

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycerolipid metabolismKEGGko00561
PPAR signaling pathwayKEGGko03320
Alzheimer's diseaseKEGGko05010
Glycerolipid metabolismKEGGhsa00561
PPAR signaling pathwayKEGGhsa03320
Alzheimer's diseaseKEGGhsa05010
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
Chylomicron-mediated lipid transportREACTOMER-HSA-174800
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Developmental BiologyREACTOMER-HSA-1266738
Transcriptional regulation of white adipocyte differentiationREACTOMER-HSA-381340
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA446120HypertriglyceridemiaDiseaseClinicalAnnotationassociatedPD19207029
PA449594fenofibrateChemicalClinicalAnnotationassociatedPD19207029
PA451089pravastatinChemicalClinicalAnnotationassociatedPD16103896

References

Pubmed IDYearTitleCitations
181930432008Newly identified loci that influence lipid concentrations and risk of coronary artery disease.690
183541022008Polymorphisms associated with cholesterol and risk of cardiovascular events.250
203858192010Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.246
207143482010Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.246
206575962010Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.199
208646722010Genetic variants influencing circulating lipid levels and risk of coronary artery disease.180
124834612002Lipoprotein lipase: structure, function, regulation, and role in disease.155
179032992007A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.145
204007802010Candidate gene association resource (CARe): design, methods, and proof of concept.102
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85

Citation

Dessen P

LPL (lipoprotein lipase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46016/lpl