APOC3 (apolipoprotein C3)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
345
Gene name Gene Name - the full gene name approved by the HGNC.
Apolipoprotein C3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APOC3
Synonyms (NCBI Gene) Gene synonyms aliases
APOCIII, Apo-C3, ApoC-3
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
107720 610 ENSG00000110245
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  PPAR signaling pathway
Cholesterol metabolism 		  Chylomicron assembly
Chylomicron remodeling
HDL remodeling
Retinoid metabolism and transport
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hyperalphalipoproteinemia Apolipoprotein C-III, nonglycosylated, apolipoprotein c-iii deficiency rs121918381, rs121918382 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cholesterol-Ester Transfer Protein Deficiency cholesterol-ester transfer protein deficiency N/A N/A GenCC
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (126)
Associations from Text Mining Disease 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