APOA4 (apolipoprotein A4)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 337
Gene name Apolipoprotein A4
Gene symbol APOA4
Synonyms (NCBI Gene)
ADTKD6
Chromosome 11
Chromosome location 11q23.3
Summary Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3`UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs5110 C>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT2173137 hsa-miR-4461 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Transcription factor Regulation Reference
PPARA Unknown 19433068
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0002227 Process Innate immune response in mucosa IDA 15254593
GO:0002227 Process Innate immune response in mucosa IEA
GO:0005319 Function Lipid transporter activity TAS 3080432
GO:0005507 Function Copper ion binding IDA 16945374
GO:0005515 Function Protein binding IPI 24311788, 32296183, 32814053
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
107690 602 ENSG00000110244
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.
P06727
Protein name Apolipoprotein A-IV (Apo-AIV) (ApoA-IV) (Apolipoprotein A4)
Protein function May have a role in chylomicrons and VLDL secretion and catabolism. Required for efficient activation of lipoprotein lipase by ApoC-II; potent activator of LCAT. Apoa-IV is a major component of HDL and chylomicrons.
PDB 3S84
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01442 Apolipoprotein 61 → 250 Apolipoprotein A1/A4/E domain Domain
PF01442 Apolipoprotein 244 → 393 Apolipoprotein A1/A4/E domain Domain
Tissue specificity TISSUE SPECIFICITY: Synthesized primarily in the intestine and secreted in plasma.
Sequence 
MFLKAVVLTLALVAVAGARAEVSADQVATVMWDYFSQLSNNAKEAVEHLQKSELTQQLNA
LFQDKLGEVNTYAGDLQKKLVPFATELHERLAKDSEKLKEEIGKELEELRARLLPHANEV
SQKIGDNLRELQQRLEPYADQLRTQVSTQAEQLRRQLTPYAQRMERVLRENADSLQASLR
PHADELKAKIDQNVEELKGRLTPYADEFKVKIDQTVEELRRSLAPYAQDTQEKLNHQLEG
LTFQMKKNAEELKARISASAEELRQRLAPLAEDVRGNLRGNTEGLQKSLAELGGHLDQQV
EEFRRRVEPYGENFNKALVQQMEQLRQKLGPHAGDVEGHLSFLEKDLRDKVNSFFSTFKE
KESQDKTLSLPELEQQQEQQQEQQQEQVQMLAPLES
Sequence length 396
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 
  Fat digestion and absorption
Vitamin digestion and absorption
Cholesterol metabolism
Lipid and atherosclerosis 		 
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 Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
APOA4-related disorder Benign; Likely benign; Uncertain significance rs5101, rs12721041, rs147610191, rs146365840, rs1320283776, rs370537175, rs373562176, rs5106, rs5105 RCV003968508
RCV003923738
RCV003911305
RCV003936410
RCV003408782
RCV003961834
RCV003934194
RCV003906084
RCV004756141
APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 Benign rs5110 RCV000019494
APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0 Benign rs539176882 RCV002223142
APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3 Benign rs121909576 RCV000019496
Show/Hide Text Mining Associations (86)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 15146166, 21900878, 22155582, 35008745, 36209425
Adenocarcinoma Associate 36171259
Adenoma Associate 37565794
Adenomatous Polyposis Coli Associate 37565794
Alzheimer Disease Inhibit 26491253
Alzheimer Disease Associate 37307028
Amyloidosis Associate 21900878, 35418036
Atherosclerosis Inhibit 15175360, 16105043, 27600335
Atherosclerosis Associate 20554794, 9925658
Blood Platelet Disorders Associate 40074081