APOC2 (apolipoprotein C2) - Rat Genome Database

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Gene: APOC2 (apolipoprotein C2) Homo sapiens
Analyze
Symbol: APOC2
Name: apolipoprotein C2
RGD ID: 1352001
HGNC Page HGNC:609
Description: Enables several functions, including identical protein binding activity; lipase activator activity; and phospholipase binding activity. Involved in several processes, including lipid transport; positive regulation of lipase activity; and regulation of lipid metabolic process. Located in extracellular space. Part of several cellular components, including low-density lipoprotein particle; spherical high-density lipoprotein particle; and triglyceride-rich plasma lipoprotein particle. Implicated in familial apolipoprotein C-II deficiency; familial hyperlipidemia; and multiple sclerosis. Biomarker of diabetes mellitus (multiple); end stage renal disease; hypobetalipoproteinemia; nephrotic syndrome; and obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: APO-CII; APOC-II; apolipoprotein C-II; MGC75082
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381944,946,051 - 44,949,565 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1944,946,035 - 44,949,565 (+)EnsemblGRCh38hg38GRCh38
GRCh371945,449,308 - 45,452,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,141,083 - 50,144,658 (+)NCBINCBI36hg18NCBI36
Build 341950,141,082 - 50,144,657NCBI
Celera1942,253,565 - 42,257,132 (+)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1941,879,798 - 41,883,381 (+)NCBIHuRef
CHM1_11945,452,071 - 45,455,660 (+)NCBICHM1_1
T2T-CHM13v2.01947,770,875 - 47,774,393 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients. Baggio G, etal., J Clin Invest. 1986 Feb;77(2):520-7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. An apolipoprotein CII mutation, CIILys19----Thr' identified in patients with hyperlipidemia. Hegele RA, etal., Dis Markers. 1991 Mar-Apr;9(2):73-80.
4. Lipoprotein composition in insulin-dependent diabetes mellitus with chronic renal failure: effect of kidney and pancreas transplantation. Hughes TA, etal., Metabolism. 1994 Mar;43(3):333-47.
5. Role of ApoCs in lipoprotein metabolism: functional differences between ApoC1, ApoC2, and ApoC3. Jong MC, etal., Arterioscler Thromb Vasc Biol. 1999 Mar;19(3):472-84.
6. Pattern of hyperlipoproteinemia in human nephrotic syndrome: influence of renal failure and diabetes mellitus. Joven J, etal., Nephron. 1993;64(4):565-9.
7. Serum apolipoproteins in heterozygous familial hypercholesterolemia. Kajinami K, etal., Clin Chim Acta. 1992 Oct 15;211(1-2):93-9.
8. Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics Konemori G, etal., Nippon Ronen Igakkai Zasshi. 1990 Jan;27(1):22-7.
9. Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome. Lam CW, etal., Clin Chim Acta. 2006 Feb;364(1-2):256-9. Epub 2005 Sep 8.
10. Plasma lipids, lipoproteins and apolipoproteins in two kindreds of hypobetalipoproteinemia. Lontie JF, etal., Atherosclerosis. 1990 Aug;83(2-3):187-96.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. Abnormal composition of apoproteins C-I, C-II, and C-III in plasma and very-low-density lipoproteins of non-insulin-dependent diabetic Chinese. Pan XR, etal., Clin Chem. 1986 Oct;32(10):1914-20.
13. Cross-linking and amyloid formation by N- and C-terminal cysteine derivatives of human apolipoprotein C-II. Pham CL, etal., Biochemistry 2002 Dec 3;41(48):14313-22.
14. [Allelic variants of apolipoproteins B and CII genes in patients with ischemic heart disease and in healthy persons from the Moscow population]. Pogoda TV, etal., Genetika. 1995 Jul;31(7):1001-9.
15. Molecular cloning and characteristics of a new apolipoprotein C-II mutant identified in three unrelated individuals with hypercholesterolemia and hypertriglyceridemia. Pullinger CR, etal., Hum Mol Genet. 1993 Jan;2(1):69-74.
16. Hua xi yi ke da xue xue bao = Journal of West China University of Medical Sciences = Huaxi yike daxue xuebao / [bian ji zhe, Hua xi yi ke da xue xue bao bian wei hui] Ren Y, etal., Hua Xi Yi Ke Da Xue Xue Bao. 2001 Mar;32(1):48-51, 69.
17. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20. The usefulness of measuring body fat deposition for detecting obesity and atherogenesity in Japanese school children. Takahashi H, etal., Acta Paediatr Jpn. 1996 Dec;38(6):634-9.
21. Chromosome 19 locus apolipoprotein C-II association with multiple sclerosis. Zouali H, etal., Mult Scler 1999 Apr;5(2):134-6.
22. The apolipoprotein C-II variant apoC-IILys19-->Thr is not associated with dyslipidemia in an affected kindred. Zysow BR, etal., Clin Genet. 1994 Jun;45(6):292-7.
Additional References at PubMed
PMID:182536   PMID:194244   PMID:270715   PMID:1555583   PMID:1917954   PMID:1971748   PMID:2209608   PMID:2415514   PMID:2477392   PMID:3014272   PMID:3030808   PMID:3192518  
PMID:3263393   PMID:3467353   PMID:3474626   PMID:3525527   PMID:3558370   PMID:3680515   PMID:3944271   PMID:4020294   PMID:4345202   PMID:6328445   PMID:6328478   PMID:6546757  
PMID:6593704   PMID:6706938   PMID:7815420   PMID:8112221   PMID:8245722   PMID:8323539   PMID:8530039   PMID:10391210   PMID:10727238   PMID:11162594   PMID:11310852   PMID:11579204  
PMID:11751863   PMID:11752456   PMID:11930616   PMID:12032151   PMID:12220441   PMID:12477932   PMID:12590574   PMID:12682050   PMID:12782148   PMID:12783430   PMID:14718574   PMID:14746139  
PMID:15031287   PMID:15174051   PMID:15209504   PMID:15489334   PMID:15778093   PMID:15878877   PMID:16432277   PMID:16459141   PMID:16682745   PMID:16763159   PMID:16968945   PMID:17018885  
PMID:17174330   PMID:17222387   PMID:17336988   PMID:17429947   PMID:17717288   PMID:17855807   PMID:18005990   PMID:18193044   PMID:18206908   PMID:18660489   PMID:18802019   PMID:18852267  
PMID:19014618   PMID:19034041   PMID:19060906   PMID:19197348   PMID:19336370   PMID:19336475   PMID:19534808   PMID:19878569   PMID:19913121   PMID:19948975   PMID:20031551   PMID:20042600  
PMID:20331378   PMID:20430392   PMID:20498921   PMID:20571754   PMID:20628086   PMID:20634891   PMID:20686565   PMID:20714348   PMID:20864672   PMID:20972250   PMID:21146539   PMID:21321243  
PMID:21476595   PMID:21873635   PMID:21943158   PMID:21985034   PMID:22239554   PMID:22244853   PMID:22286219   PMID:22808166   PMID:23159935   PMID:23376485   PMID:23631828   PMID:24981860  
PMID:25131724   PMID:25172036   PMID:25378659   PMID:26026161   PMID:26196342   PMID:26208400   PMID:26871637   PMID:28229588   PMID:28534127   PMID:29371683   PMID:29791776   PMID:30686043  
PMID:31133485   PMID:31935511   PMID:31975384   PMID:32205061   PMID:32296183   PMID:32332429   PMID:32332431   PMID:32944714   PMID:33934596   PMID:33961781   PMID:34185418   PMID:34459127  
PMID:34556808   PMID:34711951   PMID:34921821   PMID:35820705  


Genomics

Candidate Gene Status
APOC2 is a candidate Gene for QTL BW139_H
Comparative Map Data
APOC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381944,946,051 - 44,949,565 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1944,946,035 - 44,949,565 (+)EnsemblGRCh38hg38GRCh38
GRCh371945,449,308 - 45,452,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,141,083 - 50,144,658 (+)NCBINCBI36hg18NCBI36
Build 341950,141,082 - 50,144,657NCBI
Celera1942,253,565 - 42,257,132 (+)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1941,879,798 - 41,883,381 (+)NCBIHuRef
CHM1_11945,452,071 - 45,455,660 (+)NCBICHM1_1
T2T-CHM13v2.01947,770,875 - 47,774,393 (+)NCBI
Apoc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39719,405,504 - 19,411,866 (-)NCBIGRCm39mm39
GRCm39 Ensembl719,405,504 - 19,411,866 (-)Ensembl
GRCm38719,671,579 - 19,677,941 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl719,671,579 - 19,677,941 (-)EnsemblGRCm38mm10GRCm38
MGSCv37720,256,928 - 20,262,213 (-)NCBIGRCm37mm9NCBIm37
MGSCv36718,830,106 - 18,836,463 (-)NCBImm8
Celera717,077,835 - 17,082,947 (-)NCBICelera
Cytogenetic Map7A3NCBI
cM Map79.94NCBI
Apoc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2179,329,429 - 79,334,397 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl179,329,428 - 79,334,476 (-)Ensembl
Rnor_6.0180,589,023 - 80,593,991 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl180,589,023 - 80,594,136 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0181,854,610 - 81,859,580 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4178,979,034 - 78,984,002 (-)NCBIRGSC3.4rn4RGSC3.4
Celera173,788,729 - 73,793,701 (-)NCBICelera
Cytogenetic Map1q21NCBI
Apoc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555552,016,217 - 2,021,830 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555552,019,547 - 2,021,543 (+)NCBIChiLan1.0ChiLan1.0
APOC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11950,498,109 - 50,501,877 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01941,892,954 - 41,896,461 (+)NCBIMhudiblu_PPA_v0panPan3
APOC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11110,504,806 - 110,506,986 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1110,504,815 - 110,506,961 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1109,985,886 - 109,987,967 (-)NCBI
ROS_Cfam_1.01111,034,576 - 111,036,727 (-)NCBI
ROS_Cfam_1.0 Ensembl1111,034,585 - 111,036,734 (-)Ensembl
UMICH_Zoey_3.11110,709,344 - 110,711,427 (-)NCBI
UNSW_CanFamBas_1.01110,344,763 - 110,346,846 (-)NCBI
UU_Cfam_GSD_1.01111,213,632 - 111,215,715 (-)NCBI
Apoc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934917,183,204 - 17,184,690 (+)NCBI
SpeTri2.0NW_0049367061,531,219 - 1,531,921 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APOC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1651,404,219 - 51,406,302 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2647,285,954 - 47,288,054 (+)NCBISscrofa10.2Sscrofa10.2susScr3
APOC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1638,406,829 - 38,411,239 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl638,409,641 - 38,410,927 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607317,985,436 - 17,990,512 (+)NCBIVero_WHO_p1.0
Apoc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249071,765,481 - 1,769,781 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046249071,765,467 - 1,769,786 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH91449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,452,076 - 45,452,504UniSTSGRCh37
Build 361950,143,916 - 50,144,344RGDNCBI36
Celera1942,256,390 - 42,256,818RGD
Cytogenetic Map19qUniSTS
Cytogenetic Map19q13.2UniSTS
HuRef1941,882,635 - 41,883,063UniSTS
GeneMap99-GB4 RH Map19250.82UniSTS
GDB:171122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,449,428 - 45,449,528UniSTSGRCh37
Build 361950,141,268 - 50,141,368RGDNCBI36
Celera1942,253,750 - 42,253,842RGD
Cytogenetic Map19q13.2UniSTS
HuRef1941,879,987 - 41,880,087UniSTS
GDB:171136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,449,376 - 45,449,526UniSTSGRCh37
Build 361950,141,216 - 50,141,366RGDNCBI36
Celera1942,253,698 - 42,253,840RGD
Cytogenetic Map19q13.2UniSTS
HuRef1941,879,935 - 41,880,085UniSTS
GDB:179875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,452,102 - 45,452,434UniSTSGRCh37
Build 361950,143,942 - 50,144,274RGDNCBI36
Celera1942,256,416 - 42,256,748RGD
Cytogenetic Map19q13.2UniSTS
HuRef1941,882,661 - 41,882,993UniSTS
GDB:181560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,449,381 - 45,449,676UniSTSGRCh37
Build 361950,141,221 - 50,141,516RGDNCBI36
Celera1942,253,703 - 42,253,990RGD
Cytogenetic Map19q13.2UniSTS
HuRef1941,879,940 - 41,880,235UniSTS
RH46551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,448,503 - 45,448,695UniSTSGRCh37
Build 361950,140,343 - 50,140,535RGDNCBI36
Celera1942,252,825 - 42,253,017RGD
Cytogenetic Map19q13.2UniSTS
HuRef1941,879,062 - 41,879,254UniSTS
GeneMap99-GB4 RH Map19250.55UniSTS
RH18398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,448,563 - 45,448,746UniSTSGRCh37
Build 361950,140,403 - 50,140,586RGDNCBI36
Celera1942,252,885 - 42,253,068RGD
Cytogenetic Map19qUniSTS
Cytogenetic Map19q13.2UniSTS
HuRef1941,879,122 - 41,879,305UniSTS
GeneMap99-GB4 RH Map19250.75UniSTS
NCBI RH Map19484.8UniSTS
RH36305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,450,515 - 45,450,614UniSTSGRCh37
Build 361950,142,355 - 50,142,454RGDNCBI36
Celera1942,254,829 - 42,254,928RGD
Cytogenetic Map19q13.2UniSTS
HuRef1941,881,074 - 41,881,173UniSTS
GeneMap99-GB4 RH Map19250.75UniSTS
NCBI RH Map19484.8UniSTS
APOC2_2725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,452,391 - 45,452,849UniSTSGRCh37
Build 361950,144,231 - 50,144,689RGDNCBI36
Celera1942,256,705 - 42,257,163RGD
HuRef1941,882,950 - 41,883,408UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1235
Count of miRNA genes:392
Interacting mature miRNAs:419
Transcripts:ENST00000585786, ENST00000590360, ENST00000591597, ENST00000592257
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 213 213 213
Medium 32 87 242 208 78 204 22 2 1168 5 3 286 4 10 12
Low 1124 825 821 151 711 29 2232 393 2334 148 744 753 131 374 1327 2
Below cutoff 1177 1758 412 47 615 16 1791 1595 175 191 622 493 35 725 1229

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA883870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV694494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY422955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU596546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ525875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT073872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252490   ⟹   ENSP00000252490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1944,946,051 - 44,949,565 (+)Ensembl
RefSeq Acc Id: ENST00000585786   ⟹   ENSP00000465001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1944,948,286 - 44,949,332 (+)Ensembl
RefSeq Acc Id: ENST00000590360   ⟹   ENSP00000466775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1944,947,203 - 44,949,565 (+)Ensembl
RefSeq Acc Id: ENST00000591597   ⟹   ENSP00000476835
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1944,946,056 - 44,949,399 (+)Ensembl
RefSeq Acc Id: ENST00000592257   ⟹   ENSP00000477261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1944,946,035 - 44,949,395 (+)Ensembl
RefSeq Acc Id: NM_000483   ⟹   NP_000474
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381944,946,051 - 44,949,565 (+)NCBI
GRCh371945,449,239 - 45,452,822 (+)ENTREZGENE
Build 361950,141,083 - 50,144,658 (+)NCBI Archive
HuRef1941,879,798 - 41,883,381 (+)ENTREZGENE
CHM1_11945,452,071 - 45,455,660 (+)NCBI
T2T-CHM13v2.01947,770,875 - 47,774,393 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000474   ⟸   NM_000483
- Peptide Label: precursor
- UniProtKB: P02655 (UniProtKB/Swiss-Prot),   A0A024R0T9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000252490   ⟸   ENST00000252490
RefSeq Acc Id: ENSP00000465001   ⟸   ENST00000585786
RefSeq Acc Id: ENSP00000466775   ⟸   ENST00000590360
RefSeq Acc Id: ENSP00000476835   ⟸   ENST00000591597
RefSeq Acc Id: ENSP00000477261   ⟸   ENST00000592257

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02655-F1-model_v2 AlphaFold P02655 1-101 view protein structure

Promoters
RGD ID:6795143
Promoter ID:HG_KWN:30245
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_000483
Position:
Human AssemblyChrPosition (strand)Source
Build 361950,140,876 - 50,141,376 (+)MPROMDB
RGD ID:6849570
Promoter ID:EP17051
Type:single initiation site
Name:HS_APOC2
Description:Apolipoprotein CII.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:liver
Experiment Methods:RNA sequencing by primer extension; Sequencing of a full-length cDNA
Position:
Human AssemblyChrPosition (strand)Source
Build 361950,141,148 - 50,141,208EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000483.5(APOC2):c.274dup (p.Gln92fs) duplication APOLIPOPROTEIN C-II (ST. MICHAEL) [RCV000002685]|Familial apolipoprotein C-II deficiency [RCV000002686] Chr19:44949215..44949216 [GRCh38]
Chr19:45452472..45452473 [GRCh37]
Chr19:19q13.32
pathogenic
APOC2, 1-BP DEL deletion APOLIPOPROTEIN C-II (TORONTO) [RCV000002687]|Familial apolipoprotein C-II deficiency [RCV000002688] Chr19:19q13.2 pathogenic
NM_000483.5(APOC2):c.55+1G>C single nucleotide variant APOLIPOPROTEIN C-II (HAMBURG) [RCV000002689]|Familial apolipoprotein C-II deficiency [RCV000002690] Chr19:44948534 [GRCh38]
Chr19:45451791 [GRCh37]
Chr19:19q13.32
pathogenic
APOC2, 1-BP DEL, 2943G deletion APOLIPOPROTEIN C-II (NIJMEGEN) [RCV000002691]|Familial apolipoprotein C-II deficiency [RCV000002692] Chr19:19q13.2 pathogenic
NM_000483.5(APOC2):c.215+44G>A single nucleotide variant not provided [RCV001571216] Chr19:44948904 [GRCh38]
Chr19:45452161 [GRCh37]
Chr19:19q13.32
likely benign
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) single nucleotide variant APOLIPOPROTEIN C-II (AFRICAN) [RCV000002682]|Familial apolipoprotein C-II deficiency [RCV000991188]|not provided [RCV000974450]|not specified [RCV001777130] Chr19:44949172 [GRCh38]
Chr19:45452429 [GRCh37]
Chr19:19q13.32
pathogenic|benign|likely benign
NM_000483.5(APOC2):c.177C>A (p.Tyr59Ter) single nucleotide variant APOLIPOPROTEIN C-II (PADOVA) [RCV000002683]|Familial apolipoprotein C-II deficiency [RCV000002684] Chr19:44948822 [GRCh38]
Chr19:45452079 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000483.5(APOC2):c.1A>G (p.Met1Val) single nucleotide variant APOLIPOPROTEIN C-II (PARIS) [RCV000002693]|Familial apolipoprotein C-II deficiency [RCV000002694] Chr19:44948479 [GRCh38]
Chr19:45451736 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000483.5(APOC2):c.177C>G (p.Tyr59Ter) single nucleotide variant APOLIPOPROTEIN C-II (BARI) [RCV000002695]|Familial apolipoprotein C-II deficiency [RCV000002696] Chr19:44948822 [GRCh38]
Chr19:45452079 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) single nucleotide variant Apolipoprotein c-ii variant [RCV000002697]|Familial apolipoprotein C-II deficiency [RCV001135899]|not provided [RCV001551048] Chr19:44948767 [GRCh38]
Chr19:45452024 [GRCh37]
Chr19:19q13.32
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) single nucleotide variant APOLIPOPROTEIN C-II (SAN FRANCISCO) [RCV000002698]|Familial apolipoprotein C-II deficiency [RCV000991187]|not provided [RCV001513190] Chr19:44948823 [GRCh38]
Chr19:45452080 [GRCh37]
Chr19:19q13.32
pathogenic|benign|likely benign|uncertain significance
NM_000483.5(APOC2):c.142T>C (p.Trp48Arg) single nucleotide variant APOLIPOPROTEIN C-II (WAKAYAMA) [RCV000002699]|Familial apolipoprotein C-II deficiency [RCV000002700] Chr19:44948787 [GRCh38]
Chr19:45452044 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000483.5(APOC2):c.255C>A (p.Tyr85Ter) single nucleotide variant APOLIPOPROTEIN C-II (AUCKLAND) [RCV000002701]|Familial apolipoprotein C-II deficiency [RCV000002702] Chr19:44949198 [GRCh38]
Chr19:45452455 [GRCh37]
Chr19:19q13.32
pathogenic
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 copy number loss See cases [RCV000240182] Chr19:43013365..47241534 [GRCh37]
Chr19:19q13.2-13.32
pathogenic
GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3 copy number gain See cases [RCV000239782] Chr19:45284576..45978239 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000483.5(APOC2):c.*116T>C single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000270318] Chr19:44949365 [GRCh38]
Chr19:45452622 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_000483.5(APOC2):c.-2C>T single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000311438]|not provided [RCV001566077] Chr19:44948477 [GRCh38]
Chr19:45451734 [GRCh37]
Chr19:19q13.32
benign|likely benign|uncertain significance
NM_000483.5(APOC2):c.301G>A (p.Glu101Lys) single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000271567] Chr19:44949244 [GRCh38]
Chr19:45452501 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000483.5(APOC2):c.*308dup duplication Familial apolipoprotein C-II deficiency [RCV000281770] Chr19:44949556..44949557 [GRCh38]
Chr19:45452813..45452814 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000483.5(APOC2):c.*90C>T single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000362575]|not provided [RCV001559958] Chr19:44949339 [GRCh38]
Chr19:45452596 [GRCh37]
Chr19:19q13.32
benign|likely benign
NM_000483.5(APOC2):c.*203G>A single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000282845] Chr19:44949452 [GRCh38]
Chr19:45452709 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000483.5(APOC2):c.102G>A (p.Pro34=) single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000368497]|not provided [RCV001545686] Chr19:44948747 [GRCh38]
Chr19:45452004 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_000483.4(APOC2):c.-62T>G single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000369592] Chr19:44946027 [GRCh38]
Chr19:45449284 [GRCh37]
Chr19:19q13.32
benign
NM_000483.5(APOC2):c.*236C>T single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000321517] Chr19:44949485 [GRCh38]
Chr19:45452742 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_000483.5(APOC2):c.*306C>T single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000373927]|not provided [RCV001613064] Chr19:44949555 [GRCh38]
Chr19:45452812 [GRCh37]
Chr19:19q13.32
benign
NM_000483.5(APOC2):c.*24C>T single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000328931] Chr19:44949273 [GRCh38]
Chr19:45452530 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000483.5(APOC2):c.196_197del (p.Ala66fs) deletion not provided [RCV000345386] Chr19:44948840..44948841 [GRCh38]
Chr19:45452097..45452098 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000483.5(APOC2):c.*188_*189insT insertion Familial apolipoprotein C-II deficiency [RCV000379648]|not provided [RCV001653599] Chr19:44949437..44949438 [GRCh38]
Chr19:45452694..45452695 [GRCh37]
Chr19:19q13.32
benign
NM_000483.5(APOC2):c.*174T>C single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000322645] Chr19:44949423 [GRCh38]
Chr19:45452680 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000483.4(APOC2):c.-45C>T single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000394492] Chr19:44946044 [GRCh38]
Chr19:45449301 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1 copy number loss See cases [RCV000512107] Chr19:44300416..45639540 [GRCh37]
Chr19:19q13.31-13.32
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19q13.32(chr19:45338895-45618902)x3 copy number gain not provided [RCV000752710] Chr19:45338895..45618902 [GRCh37]
Chr19:19q13.32
benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_000483.5(APOC2):c.-13-281A>G single nucleotide variant not provided [RCV001691304] Chr19:44948185 [GRCh38]
Chr19:45451442 [GRCh37]
Chr19:19q13.32
benign
NM_000483.5(APOC2):c.*77C>A single nucleotide variant Familial apolipoprotein C-II deficiency [RCV001135901] Chr19:44949326 [GRCh38]
Chr19:45452583 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000483.5(APOC2):c.-13-75C>G single nucleotide variant not provided [RCV001550097] Chr19:44948391 [GRCh38]
Chr19:45451648 [GRCh37]
Chr19:19q13.32
likely benign
NM_000483.5(APOC2):c.56-4G>C single nucleotide variant Familial apolipoprotein C-II deficiency [RCV001134430]|not provided [RCV000963385] Chr19:44948697 [GRCh38]
Chr19:45451954 [GRCh37]
Chr19:19q13.32
benign
NM_000483.5(APOC2):c.189C>A (p.Tyr63Ter) single nucleotide variant Familial apolipoprotein C-II deficiency [RCV000784907] Chr19:44948834 [GRCh38]
Chr19:45452091 [GRCh37]
Chr19:19q13.32
pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NM_000483.5(APOC2):c.195C>A (p.Pro65=) single nucleotide variant Familial apolipoprotein C-II deficiency [RCV001135900]|not provided [RCV001702880]|not specified [RCV001700976] Chr19:44948840 [GRCh38]
Chr19:45452097 [GRCh37]
Chr19:19q13.32
benign|likely benign|uncertain significance
NM_000483.5(APOC2):c.-18G>A single nucleotide variant Familial apolipoprotein C-II deficiency [RCV001134428] Chr19:44946071 [GRCh38]
Chr19:45449328 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000483.5(APOC2):c.56-11T>C single nucleotide variant Familial apolipoprotein C-II deficiency [RCV001134429] Chr19:44948690 [GRCh38]
Chr19:45451947 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn) single nucleotide variant Familial apolipoprotein C-II deficiency [RCV001134431]|not provided [RCV001700702] Chr19:44948730 [GRCh38]
Chr19:45451987 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
NM_000483.5(APOC2):c.-13-67T>G single nucleotide variant not provided [RCV001659208] Chr19:44948399 [GRCh38]
Chr19:45451656 [GRCh37]
Chr19:19q13.32
benign
NM_000483.5(APOC2):c.216-145G>T single nucleotide variant not provided [RCV001656873] Chr19:44949014 [GRCh38]
Chr19:45452271 [GRCh37]
Chr19:19q13.32
benign
NM_000483.5(APOC2):c.-38G>C single nucleotide variant Familial apolipoprotein C-II deficiency [RCV001134427] Chr19:44946051 [GRCh38]
Chr19:45449308 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000483.5(APOC2):c.118del (p.Gln39_Val40insTer) deletion not provided [RCV001700669] Chr19:44948762 [GRCh38]
Chr19:45452019 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000483.5(APOC2):c.216-146_216-145insCTC insertion not provided [RCV001661071] Chr19:44949012..44949013 [GRCh38]
Chr19:45452269..45452270 [GRCh37]
Chr19:19q13.32
benign
NM_000483.5(APOC2):c.216-81T>C single nucleotide variant not provided [RCV001682249]|not specified [RCV001796699] Chr19:44949078 [GRCh38]
Chr19:45452335 [GRCh37]
Chr19:19q13.32
benign
NM_000483.5(APOC2):c.-13-103T>A single nucleotide variant not provided [RCV001620247]|not specified [RCV001796618] Chr19:44948363 [GRCh38]
Chr19:45451620 [GRCh37]
Chr19:19q13.32
benign
NM_000483.5(APOC2):c.216-61A>C single nucleotide variant not provided [RCV001658861] Chr19:44949098 [GRCh38]
Chr19:45452355 [GRCh37]
Chr19:19q13.32
likely benign
NM_000483.5(APOC2):c.-13-76C>G single nucleotide variant not provided [RCV001672398] Chr19:44948390 [GRCh38]
Chr19:45451647 [GRCh37]
Chr19:19q13.32
benign
NM_000483.5(APOC2):c.-13-189T>G single nucleotide variant not provided [RCV001652984] Chr19:44948277 [GRCh38]
Chr19:45451534 [GRCh37]
Chr19:19q13.32
likely benign
GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841) copy number gain not specified [RCV002052686] Chr19:45074342..46133841 [GRCh37]
Chr19:19q13.31-13.32
uncertain significance
NM_000483.5(APOC2):c.56-7C>G single nucleotide variant not provided [RCV002049638] Chr19:44948694 [GRCh38]
Chr19:45451951 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_000483.5(APOC2):c.10C>T (p.Arg4Ter) single nucleotide variant not provided [RCV001900516] Chr19:44948488 [GRCh38]
Chr19:45451745 [GRCh37]
Chr19:19q13.32
pathogenic
NM_000483.5(APOC2):c.34G>A (p.Val12Ile) single nucleotide variant not provided [RCV002092153] Chr19:44948512 [GRCh38]
Chr19:45451769 [GRCh37]
Chr19:19q13.32
likely benign
NM_000483.5(APOC2):c.215+10G>A single nucleotide variant not provided [RCV002089233] Chr19:44948870 [GRCh38]
Chr19:45452127 [GRCh37]
Chr19:19q13.32
likely benign
NM_000483.5(APOC2):c.174G>A (p.Leu58=) single nucleotide variant not provided [RCV002196031] Chr19:44948819 [GRCh38]
Chr19:45452076 [GRCh37]
Chr19:19q13.32
likely benign
NM_000483.5(APOC2):c.8C>T (p.Thr3Ile) single nucleotide variant not provided [RCV002096391] Chr19:44948486 [GRCh38]
Chr19:45451743 [GRCh37]
Chr19:19q13.32
likely benign
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter) single nucleotide variant Familial apolipoprotein C-II deficiency [RCV002249256] Chr19:44949217 [GRCh38]
Chr19:45452474 [GRCh37]
Chr19:19q13.32
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:609 AgrOrtholog
COSMIC APOC2 COSMIC
Ensembl Genes ENSG00000234906 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000252490 ENTREZGENE
  ENSP00000252490.5 UniProtKB/Swiss-Prot
  ENSP00000465001.1 UniProtKB/TrEMBL
  ENSP00000466775.1 UniProtKB/Swiss-Prot
  ENSP00000476835.1 UniProtKB/TrEMBL
  ENSP00000477261.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000252490 ENTREZGENE
  ENST00000252490.7 UniProtKB/Swiss-Prot
  ENST00000585786.1 UniProtKB/TrEMBL
  ENST00000590360.2 UniProtKB/Swiss-Prot
  ENST00000591597.5 UniProtKB/TrEMBL
  ENST00000592257.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1440.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000234906 GTEx
HGNC ID HGNC:609 ENTREZGENE
Human Proteome Map APOC2 Human Proteome Map
InterPro Apo-CII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ApoC-II_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:344 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 344 ENTREZGENE
OMIM 207750 OMIM
  608083 OMIM
PANTHER PTHR16566 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Apo-CII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA52 PharmGKB
UniProt A0A024R0T9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3C2_HUMAN UniProtKB/TrEMBL
  APOC2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6P163_HUMAN UniProtKB/TrEMBL
  V9GYJ8_HUMAN UniProtKB/TrEMBL
  V9GZ01_HUMAN UniProtKB/TrEMBL
UniProt Secondary C0JYY4 UniProtKB/Swiss-Prot
  Q9BS39 UniProtKB/Swiss-Prot
  Q9UDE3 UniProtKB/Swiss-Prot
  Q9UNK3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 APOC2  apolipoprotein C2    apolipoprotein C-II  Symbol and/or name change 5135510 APPROVED