Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5468
Gene name Gene Name - the full gene name approved by the HGNC.
Peroxisome proliferator activated receptor gamma
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPARG
Synonyms (NCBI Gene) Gene synonyms aliases
CIMT1, FPLD3, GLM1, NR1C3, PPARG1, PPARG2, PPARG5, PPARgamma
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1800571 C>A Pathogenic Coding sequence variant, missense variant, 5 prime UTR variant
rs1805192 C>G Risk-factor Coding sequence variant, missense variant, 5 prime UTR variant
rs28936407 G>A Pathogenic Genic downstream transcript variant, intron variant, missense variant, coding sequence variant
rs72551362 G>A Pathogenic Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs72551363 T>A Pathogenic Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005023 hsa-miR-27b-3p Luciferase reporter assay, qRT-PCR 19800867
MIRT004000 hsa-miR-20b-5p Luciferase reporter assay, qRT-PCR 21042576
MIRT004000 hsa-miR-20b-5p Luciferase reporter assay, qRT-PCR 21042576
MIRT005489 hsa-miR-138-5p qRT-PCR 20486779
MIRT005957 hsa-miR-130a-3p GFP reporter assay, qRT-PCR, Western blot 21135128
Transcription factors
Transcription factor Regulation Reference
CDX1 Activation 19059241
CEBPD Activation 10649448;18619497;20971808
E2F1 Activation 12110166
E2F1 Unknown 20971808
E2F4 Repression 12110166
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 12700342
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 18293083
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601487 9236 ENSG00000132170
Protein
UniProt ID P37231
Protein name Peroxisome proliferator-activated receptor gamma (PPAR-gamma) (Nuclear receptor subfamily 1 group C member 3)
Protein function Nuclear receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the nuclear receptor binds to DNA specific PPAR response elements (PPRE) and modulates the transcription of its target
PDB 1FM6 , 1FM9 , 1I7I , 1K74 , 1KNU , 1NYX , 1PRG , 1RDT , 1WM0 , 1ZEO , 1ZGY , 2ATH , 2F4B , 2FVJ , 2G0G , 2G0H , 2GTK , 2HFP , 2HWQ , 2HWR , 2I4J , 2I4P , 2I4Z , 2OM9 , 2P4Y , 2POB , 2PRG , 2Q59 , 2Q5P , 2Q5S , 2Q61 , 2Q6R , 2Q6S , 2Q8S , 2QMV , 2VSR , 2VST , 2VV0 , 2VV1 , 2VV2 , 2VV3 , 2VV4 , 2XKW , 2YFE , 2ZK0 , 2ZK1 , 2ZK2 , 2ZK3 , 2ZK4 , 2ZK5 , 2ZK6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12577 PPARgamma_N 31 108 PPAR gamma N-terminal region Family
PF00105 zf-C4 137 205 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 299 486 Ligand-binding domain of nuclear hormone receptor Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary. {ECO:0000269|PubMed:9065481}.
Sequence
Sequence length 505
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  PPAR signaling pathway
Efferocytosis
AMPK signaling pathway
Longevity regulating pathway
Osteoclast differentiation
Thermogenesis
Non-alcoholic fatty liver disease
Huntington disease
Pathways in cancer
Transcriptional misregulation in cancer
Thyroid cancer
Lipid and atherosclerosis
  PPARA activates gene expression
Transcriptional regulation of white adipocyte differentiation
Nuclear Receptor transcription pathway
Regulation of PTEN gene transcription
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Partial Lipodystrophy pparg-related familial partial lipodystrophy rs148195788, rs1553647989, rs1378972597, rs121909244, rs1553650477, rs72551362, rs1553653993, rs72551363, rs770557781, rs72551364, rs121909245, rs121909246, rs1553643326 N/A
neoplasm Neoplasm rs1553647989 N/A
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
Diabetes Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes (adjusted for BMI), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Waist-hip ratio and type 2 diabetes (pairwise), Type 2 diabetes (PheCode 250.2), Body mass index and type 2 diabetes (pairwise), Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Body fat percentage and type 2 diabetes (pairwise), Youth-onset type 2 diabetes, Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy), Type ii diabetes, Type 2 diabetes N/A N/A GWAS
Diabetes Mellitus Type 2 diabetes mellitus N/A N/A ClinVar
Glioma Glioma susceptibility 1 N/A N/A ClinVar
Gout Gout N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 15946122
Abortion Habitual Inhibit 29949879
Abortion Spontaneous Associate 17259396
Abruptio Placentae Associate 30194050
Acne Vulgaris Associate 16785159
Acth Independent Macronodular Adrenal Hyperplasia Inhibit 38098864
Acute Coronary Syndrome Associate 34239024
Adenocarcinoma Associate 10984506, 25931782
Adenocarcinoma Follicular Associate 12651598, 15238980, 15256783, 20056739, 23025542, 24510380, 24798894, 26649796, 29108474
Adenocarcinoma of Lung Associate 22426809