APOA2 (apolipoprotein A2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
336
Gene name Gene Name - the full gene name approved by the HGNC.
Apolipoprotein A2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APOA2
Synonyms (NCBI Gene) Gene synonyms aliases
Apo-AII, ApoA-II, apoAII
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs771259264 C>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
Transcription factor Regulation Reference
HNF4A Unknown 1639815
NR2F1 Unknown 1639815
NR2F6 Unknown 1639815
USF1 Unknown 9880489
USF2 Unknown 9880489
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(76)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
107670 601 ENSG00000158874
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyloidosis apolipoprotein A-II amyloidosis N/A N/A GenCC
Hypercholesterolemia Hypercholesterolemia, familial, 1 N/A N/A ClinVar
Show/Hide Text Mining Associations (74)
Associations from Text Mining Disease 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