APOC2 Chromosome 19
Apolipoprotein C2
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What This Gene Does
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 triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
Apolipoproteins
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000234906
Associated Conditions (12)
Apolipoprotein c-ii variant
Familial apolipoprotein C-II deficiency
Cardiovascular phenotype
APOC2-related disorder
APOLIPOPROTEIN C-II (PARIS)
APOLIPOPROTEIN C-II (ST. MICHAEL)
APOLIPOPROTEIN C-II (HAMBURG)
APOLIPOPROTEIN C-II (PADOVA)
APOLIPOPROTEIN C-II (BARI)
APOLIPOPROTEIN C-II (WAKAYAMA)
APOLIPOPROTEIN C-II (AUCKLAND)
APOLIPOPROTEIN C-II (TORONTO)
Key Variants
RS120074114
Conflicting classifications of pathogenicity
Apolipoprotein c-ii variant, Familial apolipoprotein C-II deficiency, Cardiovascular phenotype
Health Risk
RS145771233
Conflicting classifications of pathogenicity
Familial apolipoprotein C-II deficiency, Cardiovascular phenotype, Familial apolipoprotein C-II deficiency
Health Risk
RS147242592
Conflicting classifications of pathogenicity
Familial apolipoprotein C-II deficiency, Familial apolipoprotein C-II deficiency
Health Risk
RS148343756
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS199658000
Conflicting classifications of pathogenicity
Familial apolipoprotein C-II deficiency, Cardiovascular phenotype, Familial apolipoprotein C-II deficiency
Health Risk
RS778728968
Conflicting classifications of pathogenicity
Familial apolipoprotein C-II deficiency, Familial apolipoprotein C-II deficiency
Health Risk
RS120074112
Likely pathogenic
APOLIPOPROTEIN C-II (PARIS), Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (PARIS)
Health Risk
RS756916028
Likely pathogenic
APOLIPOPROTEIN C-II (ST. MICHAEL), Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (ST. MICHAEL)
Health Risk
RS111628497
Pathogenic
APOLIPOPROTEIN C-II (HAMBURG), Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (HAMBURG)
Health Risk
RS120074111
Pathogenic
APOLIPOPROTEIN C-II (PADOVA), Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (BARI)
Health Risk
RS120074115
Pathogenic
Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (WAKAYAMA), Familial apolipoprotein C-II deficiency
Health Risk
RS120074116
Pathogenic
APOLIPOPROTEIN C-II (AUCKLAND), Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (AUCKLAND)
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS120074114 | Health Risk | Conflicting classifications of pathogenicity | Apolipoprotein c-ii variant, Familial apolipoprotein C-II deficiency, Cardiovascular phenotype |
| RS145771233 | Health Risk | Conflicting classifications of pathogenicity | Familial apolipoprotein C-II deficiency, Cardiovascular phenotype, Familial apolipoprotein C-II deficiency |
| RS147242592 | Health Risk | Conflicting classifications of pathogenicity | Familial apolipoprotein C-II deficiency, Familial apolipoprotein C-II deficiency |
| RS148343756 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS199658000 | Health Risk | Conflicting classifications of pathogenicity | Familial apolipoprotein C-II deficiency, Cardiovascular phenotype, Familial apolipoprotein C-II deficiency |
| RS778728968 | Health Risk | Conflicting classifications of pathogenicity | Familial apolipoprotein C-II deficiency, Familial apolipoprotein C-II deficiency |
| RS120074112 | Health Risk | Likely pathogenic | APOLIPOPROTEIN C-II (PARIS), Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (PARIS) |
| RS756916028 | Health Risk | Likely pathogenic | APOLIPOPROTEIN C-II (ST. MICHAEL), Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (ST. MICHAEL) |
| RS111628497 | Health Risk | Pathogenic | APOLIPOPROTEIN C-II (HAMBURG), Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (HAMBURG) |
| RS120074111 | Health Risk | Pathogenic | APOLIPOPROTEIN C-II (PADOVA), Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (BARI) |
| RS120074115 | Health Risk | Pathogenic | Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (WAKAYAMA), Familial apolipoprotein C-II deficiency |
| RS120074116 | Health Risk | Pathogenic | APOLIPOPROTEIN C-II (AUCKLAND), Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (AUCKLAND) |
| RS1406419764 | Health Risk | Pathogenic | Familial apolipoprotein C-II deficiency, Familial apolipoprotein C-II deficiency |
| RS2122211012 | Health Risk | Pathogenic | APOLIPOPROTEIN C-II (TORONTO), Familial apolipoprotein C-II deficiency, APOLIPOPROTEIN C-II (TORONTO) |
| RS2513572254 | Health Risk | Pathogenic | — |
| RS751214954 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS755352904 | Health Risk | Pathogenic | — |
| RS199563828 | Health Risk | Pathogenic/Likely pathogenic | Familial apolipoprotein C-II deficiency, Cardiovascular phenotype, Familial apolipoprotein C-II deficiency |
| RS202190413 | Health Risk | Pathogenic/Likely pathogenic | Familial apolipoprotein C-II deficiency, Familial apolipoprotein C-II deficiency |
| RS754423238 | Health Risk | Pathogenic/Likely pathogenic | Familial apolipoprotein C-II deficiency, Familial apolipoprotein C-II deficiency |