APOA2 apolipoprotein A2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: APOA2provided by HGNC
Official Full Name: apolipoprotein A2provided by HGNC
Primary source: HGNC:HGNC:601
See related: Ensembl:ENSG00000158874 MIM:107670; AllianceGenome:HGNC:601
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: apoAII; Apo-AII; ApoA-II
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 result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward liver (RPKM 5129.5) See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (161222292..161223628, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (160359748..160361078, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (161192082..161193418, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CETP and APOA2 polymorphisms are associated with weight loss and healthy eating behavior changes in response to digital lifestyle modifications.
Title: CETP and APOA2 polymorphisms are associated with weight loss and healthy eating behavior changes in response to digital lifestyle modifications.
Apolipoprotein A2 isoforms associated with exocrine pancreatic insufficiency in early chronic pancreatitis.
Title: Apolipoprotein A2 isoforms associated with exocrine pancreatic insufficiency in early chronic pancreatitis.
Interaction between Apo A-II -265T > C polymorphism and dietary total antioxidant capacity on some oxidative stress and inflammatory markers in patients with type 2 diabetes mellitus.
Title: Interaction between Apo A-II -265T > C polymorphism and dietary total antioxidant capacity on some oxidative stress and inflammatory markers in patients with type 2 diabetes mellitus.
Resolution of apolipoprotein A1 and A2 proteoforms: their cardiometabolic correlates and implications for future research.
Title: Resolution of apolipoprotein A1 and A2 proteoforms: their cardiometabolic correlates and implications for future research.
Dietary acid load modifies the effects of ApoA2-265 T > C polymorphism on lipid profile and serum leptin and ghrelin levels among type 2 diabetic patients.
Title: Dietary acid load modifies the effects of ApoA2-265 T > C polymorphism on lipid profile and serum leptin and ghrelin levels among type 2 diabetic patients.
Spectrum of Apolipoprotein AI and Apolipoprotein AII Proteoforms and Their Associations With Indices of Cardiometabolic Health: The CARDIA Study.
Title: Spectrum of Apolipoprotein AI and Apolipoprotein AII Proteoforms and Their Associations With Indices of Cardiometabolic Health: The CARDIA Study.
Interaction between Apo A-II -265T>C polymorphism and dietary total antioxidant capacity on some anthropometric indices and serum lipid profile in patients with type 2 diabetes mellitus.
Title: Interaction between Apo A-II -265T>C polymorphism and dietary total antioxidant capacity on some anthropometric indices and serum lipid profile in patients with type 2 diabetes mellitus.
Familial hypertriglyceridemia: an entity with distinguishable features from other causes of hypertriglyceridemia.
Title: Familial hypertriglyceridemia: an entity with distinguishable features from other causes of hypertriglyceridemia.
Neuroprotective associations of apolipoproteins A-I and A-II with neurofilament levels in early multiple sclerosis.
Title: Neuroprotective associations of apolipoproteins A-I and A-II with neurofilament levels in early multiple sclerosis.
Human apolipoprotein A-II reduces atherosclerosis in knock-in rabbits.
Title: Human apolipoprotein A-II reduces atherosclerosis in knock-in rabbits.

Submit: New GeneRIF Correction See all GeneRIFs (92)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypercholesterolemia, familial, 1 MedGen: C0745103 OMIM: 143890 GeneReviews: Familial Hypercholesterolemia	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-17 (e-PCR)
- UniSTS:88066

SHGC-32683 (e-PCR)
- UniSTS:51274

SHGC-2468 (e-PCR)
- UniSTS:40340

APOA2 (e-PCR)
- UniSTS:46281

APOA2 (e-PCR)
- UniSTS:503779

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables apolipoprotein receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables cholesterol binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to cholesterol transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables heat shock protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables high-density lipoprotein particle binding	IBA Inferred from Biological aspect of Ancestor more info
enables high-density lipoprotein particle receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables lipid binding	IDA Inferred from Direct Assay more info	PubMed
enables lipid transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine-sterol O-acyltransferase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipoprotein particle stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in diacylglycerol catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in high-density lipoprotein particle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in high-density lipoprotein particle clearance	IDA Inferred from Direct Assay more info	PubMed
involved_in high-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in lipoprotein metabolic process	IEA Inferred from Electronic Annotation more info
involved_in low-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cholesterol import	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cholesterol transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cytokine production involved in immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lipase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of very-low-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-methionine modification	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylcholine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of CoA-transferase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of lipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phagocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in protein oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of intestinal cholesterol absorption	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein stability	IDA Inferred from Direct Assay more info	PubMed
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to glucose	IDA Inferred from Direct Assay more info	PubMed
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in reverse cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in triglyceride metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in triglyceride-rich lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
part_of chylomicron	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in early endosome	TAS Traceable Author Statement more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
part_of high-density lipoprotein particle	TAS Traceable Author Statement more info	PubMed
part_of spherical high-density lipoprotein particle	IBA Inferred from Biological aspect of Ancestor more info
part_of spherical high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
part_of very-low-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: apolipoprotein A-II

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.