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
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.
16
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 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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
APOLIPOPROTEIN A-II DEFICIENCY Pathogenic rs771259264 RCV006253670
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
APOA2-related disorder Benign; Conflicting classifications of pathogenicity; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Apolipoprotein A-II amyloidosis Uncertain significance ClinVar
GWAS catalog
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
HYPERCHOLESTEROLEMIA, FAMILIAL — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, familial, 1 Uncertain significance ClinVar
CTD, ClinVar
CTD, ClinVar
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Show/Hide Text Mining Associations (115)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
AA amyloidosis AA amyloidosis BEFREE 29618729
★★★★★
★☆☆☆☆
Found in Text Mining only
AApoAII amyloidosis AApoAII amyloidosis Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute intermittent porphyria Intermittent Porphyria BEFREE 29481802
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 31185305
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 28943632, 35011591 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 11703582, 15166779, 20462363, 21728005, 27768903, 29618729, 30794349
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis Pubtator 11703582, 29455155 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Familial Amyloidosis Pubtator 11849445, 12787390, 29455155 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis familial visceral Visceral amyloidosis Pubtator 11703582 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis, Familial Amyloidosis BEFREE 21728005
★★★★★
★☆☆☆☆
Found in Text Mining only