Gene Gene information from NCBI Gene database.
Entrez ID 3990
Gene name Lipase C, hepatic type
Gene symbol LIPC
Synonyms (NCBI Gene)
HDLCQ12HLHTGLLIPH
Chromosome 15
Chromosome location 15q21.3
Summary LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs2070895 G>A,T Risk-factor, association 5 prime UTR variant, genic upstream transcript variant, intron variant, upstream transcript variant
rs113298164 C>T Pathogenic-likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant
rs1566946168 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
594
miRTarBase ID miRNA Experiments Reference
MIRT019266 hsa-miR-148b-3p Microarray 17612493
MIRT023497 hsa-miR-1-3p Microarray 18668037
MIRT714619 hsa-miR-5692a HITS-CLIP 19536157
MIRT714618 hsa-miR-5000-5p HITS-CLIP 19536157
MIRT714617 hsa-miR-4704-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
HNF4A Unknown 16603721
SREBF2 Unknown 15721010
USF1 Unknown 15721010;19416648
USF2 Unknown 19416648
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0004465 Function Lipoprotein lipase activity IBA
GO:0004620 Function Phospholipase activity TAS 3244012
GO:0004622 Function Phosphatidylcholine lysophospholipase activity IEA
GO:0004806 Function Triacylglycerol lipase activity IDA 182536, 2839510, 7592706, 8798474, 12032167, 26193433
GO:0004806 Function Triacylglycerol lipase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
151670 6619 ENSG00000166035
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11150
Protein name Hepatic triacylglycerol lipase (HL) (Hepatic lipase) (EC 3.1.1.3) (Lipase member C) (Lysophospholipase) (EC 3.1.1.5) (Phospholipase A1) (EC 3.1.1.32)
Protein function Catalyzes the hydrolysis of triglycerides and phospholipids present in circulating plasma lipoproteins, including chylomicrons, intermediate density lipoproteins (IDL), low density lipoproteins (LDL) of large size and high density lipoproteins (
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00151 Lipase 15 349 Lipase Domain
PF01477 PLAT 354 485 PLAT/LH2 domain Domain
Sequence
Sequence length 499
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerolipid metabolism
Metabolic pathways
Cholesterol metabolism
  Assembly of active LPL and LIPC lipase complexes
Chylomicron clearance
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
54
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal circulating lipid concentration Likely pathogenic; Pathogenic rs2548785784, rs1277669986 RCV002283591
RCV002283592
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer Pathogenic rs1277669986 RCV005930265
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperlipidemia due to hepatic triglyceride lipase deficiency Pathogenic rs1566946168 RCV000022642
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIAL OCCLUSIVE DISEASES Disgenet
★★☆☆☆
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 20385826, 20888482, 21139980, 21447678, 21906714, 22694956, 23348725, 24498989, 25010633, 26503844, 27643879, 27966779, 28456421, 29346644, 30399423
View all (1 more)
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASCAT_DG 26691988
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 23181436 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arteriosclerosis Arteriosclerosis BEFREE 15156410, 19558527, 23181436
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 10681408, 12354428, 15656877, 15961789, 16164573, 23181436, 23991054 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 15156410, 19558527, 23181436
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis LHGDN 15205216, 15755868, 17234195
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 27790247
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain Ischemia Brain ischemia Pubtator 12354428 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22294764 Associate
★☆☆☆☆
Found in Text Mining only