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 result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008] See more...

Aliases for APOA2 Gene

Aliases for APOA2 Gene

  • Apolipoprotein A2 2 3 4 5
  • Apolipoprotein A-II 2 3 4
  • Apo-AII 3 4
  • ApoA-II 3 4
  • ApoAII 3
  • APOA2 5

External Ids for APOA2 Gene

Previous GeneCards Identifiers for APOA2 Gene

  • GC01M158903
  • GC01M156924
  • GC01M157969
  • GC01M158408
  • GC01M158005
  • GC01M159458
  • GC01M161192
  • GC01M132549

Summaries for APOA2 Gene

Entrez Gene Summary for APOA2 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 result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for APOA2 Gene

APOA2 (Apolipoprotein A2) is a Protein Coding gene. Diseases associated with APOA2 include Hypercholesterolemia, Familial, 1 and Aapoaii Amyloidosis. Among its related pathways are Lipoprotein metabolism and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and lipid binding.

UniProtKB/Swiss-Prot Summary for APOA2 Gene

  • May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism.

Gene Wiki entry for APOA2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOA2 Gene

Genomics for APOA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APOA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APOA2

Top Transcription factor binding sites by QIAGEN in the APOA2 gene promoter:
  • CREB
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • LCR-F1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for APOA2 Gene

Genomic Locations for APOA2 Gene
chr1:161,222,292-161,223,631
(GRCh38/hg38)
Size:
1,340 bases
Orientation:
Minus strand
chr1:161,192,082-161,193,421
(GRCh37/hg19)
Size:
1,340 bases
Orientation:
Minus strand

Genomic View for APOA2 Gene

Genes around APOA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOA2 Gene

Proteins for APOA2 Gene

  • Protein details for APOA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02652-APOA2_HUMAN
    Recommended name:
    Apolipoprotein A-II
    Protein Accession:
    P02652
    Secondary Accessions:
    • B2R524

    Protein attributes for APOA2 Gene

    Size:
    100 amino acids
    Molecular mass:
    11175 Da
    Quaternary structure:
    • Monomer. Homodimer; disulfide-linked. Also forms a disulfide-linked heterodimer with APOD (PubMed:7918467).Interacts with APOA1BP and NDRG1.
    • (Microbial infection) Interacts with HCV core protein.

neXtProt entry for APOA2 Gene

Post-translational modifications for APOA2 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for APOA2

No data available for DME Specific Peptides for APOA2 Gene

Domains & Families for APOA2 Gene

Gene Families for APOA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for APOA2 Gene

InterPro:
Blocks:
  • Apolipoprotein A-II (ApoA-II)
ProtoNet:

Suggested Antigen Peptide Sequences for APOA2 Gene

GenScript: Design optimal peptide antigens:
  • Apolipoprotein A2 (APOA2_HUMAN)
  • Apolipoprotein A-II, isoform CRA_a (D3DVG8_HUMAN)
  • Apolipoprotein A-II (Q76EI7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02652

UniProtKB/Swiss-Prot:

APOA2_HUMAN :
  • Belongs to the apolipoprotein A2 family.
Family:
  • Belongs to the apolipoprotein A2 family.
genes like me logo Genes that share domains with APOA2: view

Function for APOA2 Gene

Molecular function for APOA2 Gene

UniProtKB/Swiss-Prot Function:
May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism.
GENATLAS Biochemistry:
apolipoprotein A-II,associated with HDL (see TSG1M)

Phenotypes From GWAS Catalog for APOA2 Gene

Gene Ontology (GO) - Molecular Function for APOA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 27477018
GO:0005319 lipid transporter activity IDA 1606170
GO:0005515 protein binding IPI 11991719
GO:0005543 phospholipid binding IDA 218942
GO:0008035 high-density lipoprotein particle binding IBA 21873635
genes like me logo Genes that share ontologies with APOA2: view
genes like me logo Genes that share phenotypes with APOA2: view

Human Phenotype Ontology for APOA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for APOA2 Gene

MGI Knock Outs for APOA2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOA2

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for APOA2 Gene

Localization for APOA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOA2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOA2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
endosome 4
cytosol 4
plasma membrane 2
mitochondrion 2
peroxisome 2
nucleus 2
cytoskeleton 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for APOA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IEA --
GO:0005769 early endosome TAS --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with APOA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for APOA2 Gene

Pathways & Interactions for APOA2 Gene

genes like me logo Genes that share pathways with APOA2: view

Pathways by source for APOA2 Gene

2 KEGG pathways for APOA2 Gene
1 GeneGo (Thomson Reuters) pathway for APOA2 Gene
  • Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)

Gene Ontology (GO) - Biological Process for APOA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0002526 acute inflammatory response IEA --
GO:0002719 negative regulation of cytokine production involved in immune response IDA 12458630
GO:0002740 negative regulation of cytokine secretion involved in immune response IDA --
GO:0006641 triglyceride metabolic process TAS 11551871
genes like me logo Genes that share ontologies with APOA2: view

No data available for SIGNOR curated interactions for APOA2 Gene

Drugs & Compounds for APOA2 Gene

(17) Drugs for APOA2 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 249
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0

(16) Additional Compounds for APOA2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with APOA2: view

Transcripts for APOA2 Gene

mRNA/cDNA for APOA2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOA2

Alternative Splicing Database (ASD) splice patterns (SP) for APOA2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - -
SP2: - - -
SP3: -
SP4: - - - -
SP5:
SP6: - - -

Relevant External Links for APOA2 Gene

GeneLoc Exon Structure for
APOA2

Expression for APOA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APOA2 Gene

mRNA differential expression in normal tissues according to GTEx for APOA2 Gene

This gene is overexpressed in Liver (x52.5).

Protein differential expression in normal tissues from HIPED for APOA2 Gene

This gene is overexpressed in Plasma (25.6) and Serum (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APOA2 Gene



Protein tissue co-expression partners for APOA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APOA2

SOURCE GeneReport for Unigene cluster for APOA2 Gene:

Hs.237658

mRNA Expression by UniProt/SwissProt for APOA2 Gene:

P02652-APOA2_HUMAN
Tissue specificity: Plasma; synthesized in the liver and intestine.

Evidence on tissue expression from TISSUES for APOA2 Gene

  • Liver(5)
  • Muscle(4.5)
  • Bone marrow(4.2)
  • Spleen(4)
  • Heart(3.8)
  • Blood(3.3)
  • Intestine(2.4)
  • Lung(2.4)
  • Kidney(2.4)
  • Nervous system(2.2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with APOA2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for APOA2 Gene

Orthologs for APOA2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for APOA2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia APOA2 30 31
  • 98.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia APOA2 30 31
  • 85.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia APOA2 30 31
  • 79.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Apoa2 30 17 31
  • 74.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Apoa2 30
  • 70.75 (n)
Oppossum
(Monodelphis domestica)
Mammalia APOA2 31
  • 56 (a)
OneToOne
Species where no ortholog for APOA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for APOA2 Gene

ENSEMBL:
Gene Tree for APOA2 (if available)
TreeFam:
Gene Tree for APOA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APOA2: view image

Paralogs for APOA2 Gene

No data available for Paralogs for APOA2 Gene

Variants for APOA2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for APOA2 Gene

APOA2_HUMAN-P02652
A homozygous transition at position 1 of intron 3 of APOA2 results in deficiency of apolipoprotein A-II, without significant influence either on lipid and lipoprotein profiles or on the occurrence of coronary artery disease [MIM:107670].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOA2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
17935 Pathogenic: APOLIPOPROTEIN A-II DEFICIENCY, FAMILIAL, DUE TO APOA-II (HIROSHIMA) 161,222,917(-) C/T SPLICE_DONOR_VARIANT
774279 Benign: not provided 161,223,055(-) C/CCA INTRON_VARIANT
806258 Uncertain Significance: not provided 161,222,466(-) G/A MISSENSE_VARIANT
806259 Likely Benign: not provided 161,223,347(-) C/T INTRON_VARIANT
874371 Uncertain Significance: Apolipoprotein A-II deficiency 161,222,982(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for APOA2 Gene

Variation tolerance for APOA2 Gene

Residual Variation Intolerance Score: 44.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.06; 1.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOA2 Gene

Human Gene Mutation Database (HGMD)
APOA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOA2

SNP Genotyping and Copy Number Assay Products

No data available for Structural Variations from Database of Genomic Variants (DGV) for APOA2 Gene

Disorders for APOA2 Gene

MalaCards: The human disease database

(32) MalaCards diseases for APOA2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search APOA2 in MalaCards View complete list of genes associated with diseases

Genatlas disease for APOA2 Gene

apolipoprotein A-II deficiency

Additional Disease Information for APOA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with APOA2: view

No data available for UniProtKB/Swiss-Prot for APOA2 Gene

Publications for APOA2 Gene

  1. APOA2, dietary fat, and body mass index: replication of a gene-diet interaction in 3 independent populations. (PMID: 19901143) Corella D … Ordovas JM (Archives of internal medicine 2009) 3 23 41
  2. Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis. (PMID: 19878569) Chen SN … Marian AJ (BMC medical genetics 2009) 3 23 41
  3. Characterization of specifically oxidized apolipoproteins in mildly oxidized high density lipoprotein. (PMID: 12576517) Pankhurst G … Stocker R (Journal of lipid research 2003) 3 4 23
  4. Novel mass spectrometric immunoassays for the rapid structural characterization of plasma apolipoproteins. (PMID: 12562854) Niederkofler EE … Nelson RW (Journal of lipid research 2003) 3 4 23
  5. Sequence polymorphism at the human apolipoprotein AII gene ( APOA2): unexpected deficit of variation in an African-American sample. (PMID: 12136239) Fullerton SM … Nickerson DA (Human genetics 2002) 3 4 41

Products for APOA2 Gene

Sources for APOA2 Gene