Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
344
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Apolipoprotein C2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
APOC2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
APO-CII, APOC-II |
Chromosome
Chromosome number
|
19 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19q13.32 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
UniProt ID |
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
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Alzheimer disease |
Alzheimer`s Disease |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 View all (65 more) |
29777097 |
Amyloidosis |
Amyloidosis |
rs63750567, rs63750560, rs387906821, rs387906822, rs387906823, rs1561123748, rs140352180, rs770211260, rs763065333, rs1554300664, rs747723062, rs773435101 |
27297947 |
Apolipoprotein c2 deficiency |
Familial apolipoprotein C-II deficiency, Apolipoprotein C-II Deficiency (disorder) |
rs120074111, rs756916028, rs2122211012, rs111628497, rs120074112, rs120074115, rs120074116, rs754423238 |
24589565, 27604308, 27297947, 8323539 |
Hyperlipoproteinemia |
Hyperlipoproteinemia Type I |
rs118204056, rs118204057, rs118204058, rs118204059, rs1563572716, rs118204060, rs118204067, rs118204062, rs118204074, rs118204063, rs118204064, rs1563569634, rs118204065, rs118204066, rs1563575252, rs118204068, rs118204069, rs118204070, rs766134215, rs118204071, rs118204072, rs118204073, rs118204075, rs118204076, rs118204077, rs118204078, rs118204079, rs118204080, rs118204081, rs118204082, rs121917821, rs121918393, rs397514253, rs397514254, rs121918394, rs2122132718, rs121918396, rs121918397, rs387906567, rs587777637, rs587777638, rs587777639, rs587777640, rs587777641, rs587777642, rs587777643, rs886037774, rs201079485, rs1554517725, rs371282890, rs35414700 View all (36 more) |
|
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Pancreatitis |
Pancreatitis |
|
|
ClinVar |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
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 |
|