Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (17)

miRTarBase ID	miRNA	Experiments
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
MIRT2173217	hsa-miR-548ak	CLIP-seq
MIRT2173218	hsa-miR-548b-5p	CLIP-seq
MIRT2173219	hsa-miR-548c-5p	CLIP-seq
MIRT2173220	hsa-miR-548d-5p	CLIP-seq
MIRT2173221	hsa-miR-548h	CLIP-seq
MIRT2173222	hsa-miR-548i	CLIP-seq
MIRT2173223	hsa-miR-548j	CLIP-seq
MIRT2173224	hsa-miR-548k	CLIP-seq
MIRT2173225	hsa-miR-548l	CLIP-seq
MIRT2173226	hsa-miR-548w	CLIP-seq
MIRT2173227	hsa-miR-548y	CLIP-seq
MIRT2173228	hsa-miR-559	CLIP-seq

Show/Hide all (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
GO:0005769	Component	Early endosome	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0008047	Function	Enzyme activator activity	IEA
GO:0008289	Function	Lipid binding	IDA	10727238
GO:0010898	Process	Positive regulation of triglyceride catabolic process	IDA	10727238
GO:0010902	Process	Positive regulation of very-low-density lipoprotein particle remodeling	IDA	10727238
GO:0010916	Process	Negative regulation of very-low-density lipoprotein particle clearance	IDA	1917954
GO:0016004	Function	Phospholipase activator activity	IBA
GO:0016004	Function	Phospholipase activator activity	IDA	10727238
GO:0016042	Process	Lipid catabolic process	IEA
GO:0032375	Process	Negative regulation of cholesterol transport	IMP	15778093
GO:0033344	Process	Cholesterol efflux	IDA	11162594
GO:0033700	Process	Phospholipid efflux	IDA	11162594
GO:0034361	Component	Very-low-density lipoprotein particle	IBA
GO:0034361	Component	Very-low-density lipoprotein particle	IDA	8245722
GO:0034361	Component	Very-low-density lipoprotein particle	IEA
GO:0034362	Component	Low-density lipoprotein particle	IBA
GO:0034362	Component	Low-density lipoprotein particle	IDA	8245722
GO:0034362	Component	Low-density lipoprotein particle	IEA
GO:0034363	Component	Intermediate-density lipoprotein particle	IBA
GO:0034363	Component	Intermediate-density lipoprotein particle	IDA	17336988
GO:0034364	Component	High-density lipoprotein particle	IEA
GO:0034366	Component	Spherical high-density lipoprotein particle	IBA
GO:0034366	Component	Spherical high-density lipoprotein particle	IDA	16682745
GO:0034370	Process	Triglyceride-rich lipoprotein particle remodeling	TAS	17018885
GO:0034371	Process	Chylomicron remodeling	IDA	10727238
GO:0034372	Process	Very-low-density lipoprotein particle remodeling	TAS	15778093
GO:0034382	Process	Chylomicron remnant clearance	IBA
GO:0034382	Process	Chylomicron remnant clearance	IDA	4020294
GO:0034384	Process	High-density lipoprotein particle clearance	IBA
GO:0034384	Process	High-density lipoprotein particle clearance	IMP	15778093
GO:0042159	Process	Lipoprotein catabolic process	IBA
GO:0042627	Component	Chylomicron	IBA
GO:0042627	Component	Chylomicron	IDA	8245722
GO:0042627	Component	Chylomicron	IEA
GO:0042632	Process	Cholesterol homeostasis	IC	15778093
GO:0042802	Function	Identical protein binding	IPI	28229588
GO:0043274	Function	Phospholipase binding	IBA
GO:0043274	Function	Phospholipase binding	IPI	10727238
GO:0043691	Process	Reverse cholesterol transport	IC	15778093
GO:0045723	Process	Positive regulation of fatty acid biosynthetic process	IDA	10727238
GO:0045833	Process	Negative regulation of lipid metabolic process	IDA	182536
GO:0048261	Process	Negative regulation of receptor-mediated endocytosis	IDA	1917954
GO:0055102	Function	Lipase inhibitor activity	IDA	182536
GO:0060230	Function	Lipoprotein lipase activator activity	IDA	270715, 10727238, 15878877
GO:0060697	Process	Positive regulation of phospholipid catabolic process	IDA	10727238
GO:0070328	Process	Triglyceride homeostasis	IMP	17018885
GO:0140677	Function	Molecular function activator activity	EXP	15209504

MIM	HGNC	e!Ensembl
608083	609	ENSG00000234906

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

MGTRLLPALFLVLLVLGFEVQGTQQPQQDEMPSPTFLTQVKESLSSYWESAKTAAQNLYE
KTYLPAVDEKLRDLYSKSTAAMSTYTGIFTDQVLSVLKGEE

Sequence length

101

Interactions

View interactions

	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

115

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
APOLIPOPROTEIN C-II (AUCKLAND)	Pathogenic	rs120074116	RCV000002701
APOLIPOPROTEIN C-II (BARI)	Pathogenic	rs120074111	RCV000002695
APOLIPOPROTEIN C-II (HAMBURG)	Pathogenic	rs111628497	RCV000002689
APOLIPOPROTEIN C-II (PADOVA)	Likely pathogenic	rs120074111	RCV000002683
APOLIPOPROTEIN C-II (PARIS)	Likely pathogenic	rs120074112	RCV000002693
APOLIPOPROTEIN C-II (ST. MICHAEL)	Likely pathogenic	rs756916028	RCV000002685
APOLIPOPROTEIN C-II (TORONTO)	Pathogenic	rs2122211012	RCV000002687
APOLIPOPROTEIN C-II (WAKAYAMA)	Pathogenic	rs120074115	RCV000002699
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs199563828, rs751214954	RCV004047372 RCV002418103
Familial apolipoprotein C-II deficiency	Pathogenic; Likely pathogenic	rs1406419764, rs202190413, rs199563828, rs120074111, rs756916028, rs2122211012, rs111628497, rs120074112, rs120074115, rs120074116, rs754423238	RCV002267118 RCV004762213 RCV002249256 RCV000002684 RCV000002686 RCV000002688 RCV000002690 RCV000002694 RCV000002696 RCV000002700 RCV000002702 RCV000784907

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
APOC2-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	rs120074114, rs535665191, rs752198029, rs5121	RCV003904797 RCV003933778 RCV003924683 RCV003940316
APOLIPOPROTEIN C-II (SAN FRANCISCO)	Benign; Likely benign	rs5122	RCV000002698
Apolipoprotein c-ii variant	Conflicting classifications of pathogenicity	rs120074114	RCV000002697

Show/Hide Text Mining Associations (46)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	27297947
Alzheimer Disease	Associate	17916554, 29371683, 8128960
Amyloidosis Familial	Associate	27297947, 30665372
Amyloidosis familial visceral	Associate	27297947
Cardiovascular Diseases	Associate	36690263
Cleft Palate	Associate	7668251
Colorectal Neoplasms	Associate	27992526
Coronary Disease	Associate	20498921
Coronary Stenosis	Associate	32327445
COVID 19	Associate	34232570
Diabetes Mellitus	Stimulate	32327445
Diabetes Mellitus Type 2	Associate	38003484
Down Syndrome	Associate	25476127
Dyskinesia Familial with Facial Myokymia	Associate	27297947
Dyslipidemias	Associate	31538826, 34921821, 38003484
Guillain Barre Syndrome	Stimulate	38143756
Hemolytic Uremic Syndrome	Inhibit	10412780
Hernia	Associate	23631828
Hyperlipidemias	Associate	16200213, 24646025
Hyperlipoproteinemia Type I	Inhibit	10225669, 3944267
Hyperlipoproteinemia Type I	Associate	10225669, 1479292, 1569385, 23470567, 2592354, 28201738, 29748148, 32205061, 32375710, 3379339, 3680515, 9017511
Hypersensitivity Immediate	Associate	7815420
Hypertriglyceridemia	Associate	10225669, 1569385, 23151256, 26772541, 29910226, 29921298, 30885219, 32115487, 35741823, 38003484, 3944267, 3944271, 6593704
Hypertriglyceridemia	Stimulate	35568684
Hypertriglyceridemic Waist	Associate	2341805, 9017511
Hypoalphalipoproteinemias	Stimulate	26667175
Hypobetalipoproteinemia Familial Apolipoprotein B	Associate	7815420
Hypogonadism	Associate	30665372
Hypoprothrombinemias	Associate	1569385, 28201738
Hypoprothrombinemias	Inhibit	28201738, 3379339
Immunologic Deficiency Syndromes	Inhibit	26772541
Kidney Diseases	Associate	27297947
Kidney Failure Chronic	Associate	22282592
Leukemia Megakaryoblastic Acute	Associate	25476127
Lymphatic Metastasis	Stimulate	37310025
Metabolic Diseases	Associate	36690263, 38003484
Metabolic Syndrome	Associate	28740125
Muscular Dystrophies	Associate	2562820
Myotonic Dystrophy	Associate	1672160, 1895314, 2002492, 2562820, 2575669, 2878705, 8279459
Neoplasms	Associate	36497182, 36690263
Pancreatitis	Associate	10225669, 26772541, 28201738, 36423940, 3944267
Plaque Amyloid	Associate	27297947
Plaque Atherosclerotic	Associate	17916554
Psychotic Disorders	Associate	28252112
Stomach Neoplasms	Associate	36430456
Urinary Bladder Neoplasms	Associate	23631828

APOC2 (apolipoprotein C2)