APOA2 (apolipoprotein A2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 336
Gene name Apolipoprotein A2
Gene symbol APOA2
Synonyms (NCBI Gene)
Apo-AIIApoA-IIapoAII
Chromosome 1
Chromosome location 1q23.3
Summary This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may resul
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs771259264 C>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
16
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT789751 hsa-miR-193a-3p CLIP-seq
MIRT789752 hsa-miR-193b CLIP-seq
MIRT789753 hsa-miR-28-5p CLIP-seq
MIRT789754 hsa-miR-3117-3p CLIP-seq
MIRT789755 hsa-miR-3132 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
HNF4A Unknown 1639815
NR2F1 Unknown 1639815
NR2F6 Unknown 1639815
USF1 Unknown 9880489
USF2 Unknown 9880489
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
76
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002719 Process Negative regulation of cytokine production involved in immune response IDA 12458630
GO:0005102 Function Signaling receptor binding IPI 27477018
GO:0005319 Function Lipid transporter activity IDA 1606170
GO:0005515 Function Protein binding IPI 11991719, 14967812, 17786215, 25416956, 29892012, 32296183
GO:0005543 Function Phospholipid binding IDA 218942
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
107670 601 ENSG00000158874
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02652
Protein name Apolipoprotein A-II (Apo-AII) (ApoA-II) (Apolipoprotein A2) [Cleaved into: Proapolipoprotein A-II (ProapoA-II); Truncated apolipoprotein A-II (Apolipoprotein A-II(1-76))]
Protein function May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04711 ApoA-II 24 → 98 Apolipoprotein A-II (ApoA-II) Family
Tissue specificity TISSUE SPECIFICITY: Plasma; synthesized in the liver and intestine.
Sequence
Sequence length 100
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  PPAR signaling pathway
Cholesterol metabolism 		  PPARA activates gene expression
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Chylomicron assembly
Chylomicron remodeling
Retinoid metabolism and transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
APOLIPOPROTEIN A-II DEFICIENCY Pathogenic rs771259264 RCV006253670
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
APOA2-related disorder Benign; Conflicting classifications of pathogenicity; Likely benign rs6413453, rs17244502, rs6413454 RCV003967823
RCV003967824
RCV003951800
RCV003935584
RCV003973134
RCV003973138
Apolipoprotein A-II amyloidosis Uncertain significance rs5082 RCV005357153
Hypercholesterolemia, familial, 1 Uncertain significance rs5082 RCV000019529
Show/Hide Text Mining Associations (74)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 11703582, 12787390, 7639323
Alzheimer Disease Associate 28943632, 35011591
Amyloidosis Associate 11703582, 29455155
Amyloidosis Familial Associate 11849445, 12787390, 29455155
Amyloidosis familial visceral Associate 11703582
Arthritis Psoriatic Stimulate 22649206
Atherosclerosis Associate 12576517
Atherosclerosis Inhibit 33889392
Carcinoma Hepatocellular Stimulate 22726459
Carcinoma Hepatocellular Associate 33327311