APOA4 (apolipoprotein A4)

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.
337
Gene name Gene Name - the full gene name approved by the HGNC.
Apolipoprotein A4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APOA4
Synonyms (NCBI Gene) Gene synonyms aliases
ADTKD6
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs5110 C>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT2173137 hsa-miR-4461 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
PPARA Unknown 19433068
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(73)
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 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
107690 602 ENSG00000110244
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 		 
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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
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Show/Hide Text Mining Associations (86)
Associations from Text Mining Disease 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