LIPC (lipase C, hepatic type)

2012-05-01  

Identity

HGNC
LOCATION
15q21.3
LOCUSID
ALIAS
HDLCQ12,HL,HTGL,LIPH
FUSION GENES

Other Information

Locus ID:

NCBI: 3990
MIM: 151670
HGNC: 6619
Ensembl: ENSG00000166035

Variants:

dbSNP: 3990
ClinVar: 3990
TCGA: ENSG00000166035
COSMIC: LIPC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166035ENST00000299022P11150
ENSG00000166035ENST00000356113P11150
ENSG00000166035ENST00000414170E7EUJ1
ENSG00000166035ENST00000433326E7EUK6

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Glycerolipid metabolismKEGGko00561
Glycerolipid metabolismKEGGhsa00561
Metabolic pathwaysKEGGhsa01100
Acylglycerol degradationKEGGhsa_M00098
Acylglycerol degradationKEGGM00098
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Digestion of dietary lipidREACTOMER-HSA-192456
Lipoprotein metabolismREACTOMER-HSA-174824
Chylomicron-mediated lipid transportREACTOMER-HSA-174800

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA449688fluvastatinChemicalClinicalAnnotationassociatedPD16103896
PA451089pravastatinChemicalClinicalAnnotationassociatedPD16103896, 16115483
PA451363simvastatinChemicalClinicalAnnotationassociatedPD16103896

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
203858262010Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).199
203858262010Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).199
199362222009Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.151
204007802010Candidate gene association resource (CARe): design, methods, and proof of concept.102
206826872010Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.88
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
191482832009Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.56

Citation

Dessen P

LIPC (lipase C, hepatic type)

Atlas Genet Cytogenet Oncol Haematol. 2012-05-01

Online version: http://atlasgeneticsoncology.org/gene/43641/lipc