Gene Gene information from NCBI Gene database.
Entrez ID 344
Gene name Apolipoprotein C2
Gene symbol APOC2
Synonyms (NCBI Gene)
APO-CIIAPOC-II
Chromosome 19
Chromosome location 19q13.32
Summary This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes trigly
miRNA miRNA information provided by mirtarbase database.
17
miRTarBase ID miRNA Experiments Reference
MIRT2173212 hsa-miR-142-5p CLIP-seq
MIRT2173213 hsa-miR-3907 CLIP-seq
MIRT2173214 hsa-miR-409-3p CLIP-seq
MIRT2173215 hsa-miR-548a-5p CLIP-seq
MIRT2173216 hsa-miR-548ab CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 14718574
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IDA 10727238
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608083 609 ENSG00000234906
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02655
Protein name Apolipoprotein C-II (Apo-CII) (ApoC-II) (Apolipoprotein C2) [Cleaved into: Proapolipoprotein C-II (ProapoC-II)]
Protein function Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an activator of lipoprotein lipase. Both proapol
PDB 1BY6 , 1I5J , 1O8T , 1SOH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05355 Apo-CII 24 100 Apolipoprotein C-II Family
Tissue specificity TISSUE SPECIFICITY: Liver and intestine. {ECO:0000269|PubMed:6546757}.
Sequence
Sequence length 101
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cholesterol metabolism   Chylomicron assembly
Chylomicron remodeling
HDL remodeling
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
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
APOLIPOPROTEIN C-II (AUCKLAND) Pathogenic rs120074116 RCV000002701
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APOLIPOPROTEIN C-II (BARI) Pathogenic rs120074111 RCV000002695
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APOLIPOPROTEIN C-II (HAMBURG) Pathogenic rs111628497 RCV000002689
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APOLIPOPROTEIN C-II (PADOVA) Likely pathogenic rs120074111 RCV000002683
★★★★☆
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
APOC2-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
APOLIPOPROTEIN C-II (SAN FRANCISCO) Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
APOLIPOPROTEIN C-II DEFICIENCY 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
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 25476127
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 29921298
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 17916554, 29371683, 8128960 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 29777097
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis GENOMICS_ENGLAND_DG 27297947
★☆☆☆☆
Found in Text Mining only
Amyloidosis Familial Amyloidosis Pubtator 27297947, 30665372 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis familial visceral Visceral amyloidosis Pubtator 27297947 Associate
★☆☆☆☆
Found in Text Mining only
Apolipoprotein C-II Deficiency (disorder) Apolipoprotein C2 deficiency BEFREE 12049186, 23470567, 25172036, 26044956, 28201738
★☆☆☆☆
Found in Text Mining only
Apolipoprotein C-II Deficiency (disorder) Apolipoprotein C2 deficiency ORPHANET_DG 24589565
★☆☆☆☆
Found in Text Mining only
Apolipoprotein C-II Deficiency (disorder) Apolipoprotein C2 deficiency GENOMICS_ENGLAND_DG 27297947, 27604308
★☆☆☆☆
Found in Text Mining only