PPARD

Gene Information
 
Gene Symbol
PPARD
 
Aliases
FAAR, NR1C2, NUC1, NUCI, NUCII, PPARB
 
Entrez Gene ID
 
Gene Name
Peroxisome proliferator activated receptor delta
 
Chromosomal Location
6p21.31
 
HGNC ID
 
Summary
This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. The encoded protein is thought to function as an integrator of transcriptional repression and nuclear receptor signaling. It may inhibit the ligand-induced transcriptional activity of peroxisome proliferator activated receptors alpha and gamma, though evidence for this effect is inconsistent. Expression of this gene in colorectal cancer cells may be variable but is typically relatively low. Knockout studies in mice suggested a role for this protein in myelination of the corpus callosum, lipid metabolism, differentiation, and epidermal cell proliferation. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2017]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP Id
Upstream Sequence
SNP
Downstream Sequence Functional Significance References
rs2267668 TTGTGGGACTTCAGAAGAGAGAAAGA
C/T
GTGGGCTGGACATCAAAGAAGGCCT Intron variant 19681917

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0000122 Biological process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0006006 Biological process Glucose metabolic process NAS 15793256
GO:0006091 Biological process Generation of precursor metabolites and energy TAS 1333051
GO:0006357 Biological process Regulation of transcription by RNA polymerase II TAS 1333051
GO:0006631 Biological process Fatty acid metabolic process IBA 21873635
Protein Information
 
Protein Name
Peroxisome proliferator-activated receptor delta, PPAR-beta, PPAR-delta, PPARD/MYO1D fusion, nuclear hormone receptor 1, nuclear receptor subfamily 1 group C member 2, peroxisome proliferator-activated receptor beta
 
Function
Ligand-activated transcription factor. Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Has a preference for poly-unsaturated fatty acids, such as gamma-linoleic acid and eicosapentanoic acid. Once activated by a ligand, the receptor binds to promoter elements of target genes. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the acyl-CoA oxidase gene. Decreases expression of NPC1L1 once activated by a ligand.
 
Refseq Proteins
 
UniProt
 
PDB
Pathways
 
KEGG
 
Reactome
 

PPAR signaling pathway
Wnt signaling pathway
Pathways in cancer
Acute myeloid leukemia

 

Carnitine metabolism
Regulation of pyruvate dehydrogenase (PDH) complex
Nuclear Receptor transcription pathway
Signaling by Retinoic Acid

Interactions
 
STRING MINT IntAct
ENSP00000270142 P00441 P00441
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Cardiomyopathy
Myocardial Diseases
Digestive System Diseases
Alcoholic fatty liver
Non-alcoholic Fatty Liver Disease
Fatty Liver
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
PPAR-alpha Leu162Val, PPARGC1A, PPAR-gamma2 Pro12Ala and PPAR-gamma2 -681C/G variants 
 
PPAR-delta rs2267668A/G, PPAR-delta-87T/C 
 
Direct 
 
Common polymorphisms in the PPARGC1A, PPAR-delta and PPAR-gamma2 loci are associated with PCOS. 

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