Gene Gene information from NCBI Gene database.
Entrez ID 345
Gene name Apolipoprotein C3
Gene symbol APOC3
Synonyms (NCBI Gene)
APOCIIIApo-C3ApoC-3
Chromosome 11
Chromosome location 11q23.3
Summary This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs76353203 C>G,T Pathogenic, protective Missense variant, coding sequence variant, stop gained
rs121918381 A>G Pathogenic Coding sequence variant, missense variant
rs121918382 A>G Pathogenic Coding sequence variant, missense variant
rs138326449 G>A Protective, pathogenic Splice donor variant
rs140621530 G>T Protective, likely-benign, pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
105
miRTarBase ID miRNA Experiments Reference
MIRT696694 hsa-miR-548c-3p HITS-CLIP 23313552
MIRT696692 hsa-miR-6732-3p HITS-CLIP 23313552
MIRT696693 hsa-miR-5583-3p HITS-CLIP 23313552
MIRT696691 hsa-miR-34a-3p HITS-CLIP 23313552
MIRT696690 hsa-miR-10a-5p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
14
Transcription factor Regulation Reference
ATF2 Activation 9760243
HDAC1 Unknown 20516075
HDAC3 Unknown 20516075
HNF4A Unknown 1639815;20516075
JUN Activation 9760243
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005543 Function Phospholipid binding IBA
GO:0005543 Function Phospholipid binding IDA 4066713, 11060345
GO:0005576 Component Extracellular region HDA 27068509, 27559042
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
107720 610 ENSG00000110245
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02656
Protein name Apolipoprotein C-III (Apo-CIII) (ApoC-III) (Apolipoprotein C3)
Protein function Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma (PubMed:18201179, PubMed:22510806). Plays a multifaceted role in triglyceride homeostasis (PubMed:18201179, PubMed:22510806). Intra
PDB 2JQ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05778 Apo-CIII 22 90 Apolipoprotein CIII (Apo-CIII) Family
Tissue specificity TISSUE SPECIFICITY: Liver. {ECO:0000269|PubMed:6328445}.
Sequence
Sequence length 99
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  PPAR signaling pathway
Cholesterol metabolism
  Chylomicron assembly
Chylomicron remodeling
HDL remodeling
Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
56
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Apolipoprotein c-III deficiency Pathogenic rs121918382 RCV000019492
Apolipoprotein C-III, nonglycosylated Pathogenic rs121918381 RCV000019491
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
APOC3-related disorder Benign; Likely benign rs200557528 RCV003941127
Cardiovascular phenotype Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs200557528, rs138326449, rs147210663, rs764157867, rs571476926, rs762766868, rs774247573, rs942960138, rs963060587, rs1941437848, rs1204077086, rs372158089, rs2540278122, rs1591326474, rs1179268663
View all (16 more)
RCV002386559
RCV002345442
RCV002371975
RCV006357431
RCV002323323
RCV002357797
RCV002340620
RCV002351343
RCV002367356
RCV002376355
RCV002367141
RCV002364746
RCV002399045
RCV002407404
RCV002410872
RCV002450321
RCV002435114
RCV002437890
RCV004089301
RCV003177262
RCV003177263
RCV003214123
RCV003310166
RCV004320105
RCV003301913
RCV003301915
RCV005467945
RCV004984647
RCV004518670
RCV002385955
RCV002375311
Cervical cancer Conflicting classifications of pathogenicity rs140621530 RCV005886891
Cholesterol-ester transfer protein deficiency Conflicting classifications of pathogenicity rs76353203 RCV005357152
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 22675253
Alcohol Related Disorders Associate 37902017
Alzheimer Disease Inhibit 26491253
Alzheimer Disease Associate 35387811
Amyloidosis Associate 26790392
Amyloidosis Familial Associate 26790392
Anemia Sickle Cell Associate 11553004
Antiphospholipid Syndrome Associate 32299226
Aphasia Conduction Associate 40065360
Apolipoprotein C III Deficiency Associate 26790392