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Aliases for PPARG Gene

Aliases for PPARG Gene

  • Peroxisome Proliferator Activated Receptor Gamma 2 3 5
  • Peroxisome Proliferator-Activated Receptor Gamma 2 3
  • Nuclear Receptor Subfamily 1 Group C Member 3 3 4
  • PPAR-Gamma 3 4
  • NR1C3 3 4
  • Peroxisome Proliferator-Activated Nuclear Receptor Gamma Variant 1 3
  • Peroxisome Proliferative Activated Receptor, Gamma 2
  • PPARgamma 3
  • PPARG1 3
  • PPARG2 3
  • CIMT1 3
  • GLM1 3

External Ids for PPARG Gene

Previous GeneCards Identifiers for PPARG Gene

  • GC03P012258
  • GC03P012304
  • GC03P012305
  • GC03P012263

Summaries for PPARG Gene

Entrez Gene Summary for PPARG 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 PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPARG Gene

PPARG (Peroxisome Proliferator Activated Receptor Gamma) is a Protein Coding gene. Diseases associated with PPARG include Lipodystrophy, Familial Partial, Type 3 and Obesity. Among its related pathways are Regulation of retinoblastoma protein and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is PPARA.

UniProtKB/Swiss-Prot for PPARG Gene

  • 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 genes, such as acyl-CoA oxidase. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. ARF6 acts as a key regulator of the tissue-specific adipocyte P2 (aP2) enhancer. Acts as a critical regulator of gut homeostasis by suppressing NF-kappa-B-mediated proinflammatory responses. Plays a role in the regulation of cardiovascular circadian rhythms by regulating the transcription of ARNTL/BMAL1 in the blood vessels (By similarity).

Tocris Summary for PPARG Gene

  • Peroxisome proliferator-activated receptor gamma (PPARgamma) is a member of the nuclear receptor family of ligand-activated transcription factors that heterodimerize with the retinoic X receptor (RXR) to regulate gene expression.

Gene Wiki entry for PPARG Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPARG Gene

Genomics for PPARG Gene

Regulatory Elements for PPARG Gene

Enhancers for PPARG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F012327 1.3 FANTOM5 Ensembl 35.1 +40.7 40740 1.8 ZNF316 MAFK PPARG SYN2 TIMP4 ENSG00000225026 GC03P012338
GH03F012307 1.1 Ensembl ENCODE 30.3 +21.2 21208 2.6 SOX13 ELF3 SAP130 RAD21 YY1 TEAD3 FOS HOMEZ MIXL1 GATAD2A PPARG TIMP4 SYN2 ENSG00000225026
GH03F012325 0.9 Ensembl 27 +38.7 38731 1.0 ZNF316 MAFG MAFK PPARG SYN2 TIMP4 ENSG00000225026
GH03F012301 1.5 FANTOM5 Ensembl ENCODE 25.8 +15.7 15721 3.0 INSM2 FEZF1 ZEB1 ZNF366 SCRT2 FOS ZNF362 SP3 YY2 TSHZ1 PPARG SYN2 TIMP4 RAF1 ENSG00000225026
GH03F012191 1.3 FANTOM5 Ensembl ENCODE 22.6 -93.6 -93560 4.0 ATF1 WRNIP1 SIN3A YY1 GTF3C2 ZNF766 ZNF143 FOS DEK JUNB SYN2 PPARG TAMM41 ENSG00000271716 TIMP4 RAF1 GC03P012190 PIR34150 PIR33937
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PPARG on UCSC Golden Path with GeneCards custom track

Genomic Location for PPARG Gene

Chromosome:
3
Start:
12,287,368 bp from pter
End:
12,471,013 bp from pter
Size:
183,646 bases
Orientation:
Plus strand

Genomic View for PPARG Gene

Genes around PPARG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPARG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPARG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPARG Gene

Proteins for PPARG Gene

  • Protein details for PPARG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37231-PPARG_HUMAN
    Recommended name:
    Peroxisome proliferator-activated receptor gamma
    Protein Accession:
    P37231
    Secondary Accessions:
    • A8K3G6
    • B5BUA1
    • O00684
    • O00710
    • O14515
    • Q0QJH8
    • Q15178
    • Q15179
    • Q15180
    • Q15832
    • Q86U60
    • Q96J12

    Protein attributes for PPARG Gene

    Size:
    505 amino acids
    Molecular mass:
    57620 Da
    Quaternary structure:
    • Interacts with FOXO1 (acetylated form) (By similarity). Heterodimer with other nuclear receptors, such as RXRA. The heterodimer with the retinoic acid receptor RXRA is called adipocyte-specific transcription factor ARF6. Interacts with NCOA6 coactivator, leading to a strong increase in transcription of target genes. Interacts with coactivator PPARBP, leading to a mild increase in transcription of target genes. Interacts with NOCA7 in a ligand-inducible manner. Interacts with NCOA1 and NCOA2 LXXLL motifs. Interacts with ASXL1, ASXL2, DNTTIP2, FAM120B, MAP2K1/MEK1, NR0B2, PDPK1, PRDM16, PRMT2 and TGFB1I1. Interacts (when activated by agonist) with PPP5C. Interacts with HELZ2 and THRAP3; the interaction stimulates the transcriptional activity of PPARG. Interacts with PER2, the interaction is ligand dependent and blocks PPARG recruitment to target promoters. Interacts with NOCT. Interacts with ACTN4.
    SequenceCaution:
    • Sequence=AAN38992.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA23354.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAF83270.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA62153.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PPARG Gene

    Alternative splice isoforms for PPARG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPARG Gene

Post-translational modifications for PPARG Gene

  • O-GlcNAcylation at Thr-84 reduces transcriptional activity in adipocytes.
  • Phosphorylated in basal conditions and dephosphorylated when treated with the ligand. May be dephosphorylated by PPP5C. The phosphorylated form may be inactive and dephosphorylation at Ser-112 induces adipogenic activity (By similarity).
  • Glycosylation at Thr 84
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPARG Gene

Domains & Families for PPARG Gene

Graphical View of Domain Structure for InterPro Entry

P37231

UniProtKB/Swiss-Prot:

PPARG_HUMAN :
  • Contains 1 nuclear receptor DNA-binding domain.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with PPARG: view

Function for PPARG Gene

Molecular function for PPARG Gene

GENATLAS Biochemistry:
peroxisome proliferator-activated receptor,steroid/thyroid hormone coactivator receptor superfamily,heterodimerizing with RXR*,coactivated by SRCO1,expressed (isoform 1) in the diploid trophoblast lineages and required for placental development,expressed at low levels in preadipocytes,induced by CEBPB and CEBPD,coexpressed with and coregulated by PPARG,jointly required for full adipocyte differentiation and fat deposition with variability influencing plasma leptin levels in obese humans,modulator of insulin sensitivity and control of glucose homostasis and blood pressure and activation of antidiabetic effect of thiazolidinediones,negative regulator of macrophage activation,inhibiting production of monocyte inflammatory cytokines,increasing PAI1 expression in endothelial cells.
UniProtKB/Swiss-Prot EnzymeRegulation:
PDPK1 activates its transcriptional activity independently of its kinase activity.
UniProtKB/Swiss-Prot 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 genes, such as acyl-CoA oxidase. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. ARF6 acts as a key regulator of the tissue-specific adipocyte P2 (aP2) enhancer. Acts as a critical regulator of gut homeostasis by suppressing NF-kappa-B-mediated proinflammatory responses. Plays a role in the regulation of cardiovascular circadian rhythms by regulating the transcription of ARNTL/BMAL1 in the blood vessels (By similarity).

Gene Ontology (GO) - Molecular Function for PPARG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001046 core promoter sequence-specific DNA binding ISS --
GO:0003677 DNA binding ISS,IDA --
GO:0003682 chromatin binding ISS --
GO:0003700 transcription factor activity, sequence-specific DNA binding ISS --
GO:0003707 steroid hormone receptor activity IEA --
genes like me logo Genes that share ontologies with PPARG: view
genes like me logo Genes that share phenotypes with PPARG: view

Human Phenotype Ontology for PPARG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PPARG Gene

MGI Knock Outs for PPARG:

Animal Model Products

  • Taconic Biosciences Mouse Models for PPARG
Targeted motifs for PPARG Gene
HOMER Transcription Factor Regulatory Elements motif PPARG
  • Consensus sequence: TGACCTTTGCCCCA Submotif: DR1 Cell Type: 3T3L1 GEO ID: GSE13511

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for PPARG Gene

Localization for PPARG Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPARG Gene

Nucleus. Cytoplasm. Note=Redistributed from the nucleus to the cytosol through a MAP2K1/MEK1-dependent manner. NOCT enhances its nuclear translocation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPARG Gene COMPARTMENTS Subcellular localization image for PPARG gene
Compartment Confidence
nucleus 5
cytosol 4
golgi apparatus 4
peroxisome 4
extracellular 3
mitochondrion 3
cytoskeleton 2
endoplasmic reticulum 2
plasma membrane 2
vacuole 2
lysosome 1

Gene Ontology (GO) - Cellular Components for PPARG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 9568716
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with PPARG: view

Pathways & Interactions for PPARG Gene

genes like me logo Genes that share pathways with PPARG: view

SIGNOR curated interactions for PPARG Gene

Gene Ontology (GO) - Biological Process for PPARG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001890 placenta development ISS --
GO:0002674 negative regulation of acute inflammatory response IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with PPARG: view

Drugs & Compounds for PPARG Gene

(184) Drugs for PPARG Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rosiglitazone Approved, Investigational Pharma Full agonist, Agonist, agonist, Target Potent PPARγ agonist, Potent and selective PPARgamma agonist; antidiabetic agent. 220
Pioglitazone Approved, Investigational Pharma Full agonist, Agonist, agonist, Target 435
Bezafibrate Approved Pharma Agonist, Target, agonist 14
Indomethacin Approved, Investigational Pharma Partial agonist, Agonist, inhibitor, Target, activator Cox inhibitor, Cyclooxygenase inhibitor (COX-1 > COX-2) 114
Balsalazide Approved, Investigational Pharma inhibitor, Target, agonist 7

(89) Additional Compounds for PPARG Gene - From: HMDB, Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
15-deoxy-delta 12 14-prostaglandin J2
Full agonist, Agonist
CDDO
Partial agonist, Agonist
thiazolidinone
Partial agonist, Agonist
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2

(5) Tocris Compounds for PPARG Gene

Compound Action Cas Number
GW 9662 Selective PPARgamma antagonist 22978-25-2
Pioglitazone hydrochloride Selective PPARgamma agonist; antidiabetic agent 112529-15-4
Rosiglitazone Potent and selective PPARgamma agonist; antidiabetic agent. 122320-73-4
T 0070907 Highly potent and selective PPARgamma antagonist 313516-66-4
Troglitazone Selective PPARgamma agonist; antidiabetic agent 97322-87-7

(30) ApexBio Compounds for PPARG Gene

Compound Action Cas Number
15-deoxy-Δ-12,14-Prostaglandin J2 87893-55-8
2-(4-((2-(4-(Trifluoromethyl)phenyl)-5-methylthiazol-4-yl)methylthio)-2- methylphenoxy)acetic acid 317318-70-0
Aleglitazar PPARα/PPARγagonist 475479-34-6
AUDA 479413-70-2
BADGE 1675-54-3
Balaglitazone PPAR-γ partial agonist 199113-98-9
Bezafibrate 41859-67-0
Ciglitazone 74772-77-3
Ciprofibrate 52214-84-3
CP 775146 702680-17-9
Fenofibrate 49562-28-9
Gemfibrozil 25812-30-0
GSK 0660 1014691-61-2
GW 7647 265129-71-3
GW1929 Potent PPARγ agonist 196808-24-9
GW9662 PPARγ antagonist 22978-25-2
Inolitazone PPARgamma agonist 223132-37-4
Inolitazone dihydrochloride PPARγ agonist,high-affinity and novel 223132-38-5
nTZDpa 118414-59-8
Pioglitazone 111025-46-8
Pioglitazone HCl PPARγ agonist 112529-15-4
Rosiglitazone Potent PPARγ agonist 122320-73-4
Rosiglitazone HCl 302543-62-0
Rosiglitazone maleate PPARγ agonist,high-affinity and selective,potent insulin sensitizer 155141-29-0
S26948 353280-43-0
SR 1664 1338259-05-4
SR 202 PPAR antagonist 76541-72-5
T0070907 Human PPARγ antagonist,potent and selective 313516-66-4
Tesaglitazar 251565-85-2
Troglitazone Selective PPARγ agonist 97322-87-7
genes like me logo Genes that share compounds with PPARG: view

Drug Products

Transcripts for PPARG Gene

Unigene Clusters for PPARG Gene

Peroxisome proliferator-activated receptor gamma:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPARG Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c
SP1: - - -
SP2: - - - - - - -
SP3:
SP4: - -
SP5: - - - - -
SP6: - -
SP7: -
SP8: - - - - - - -
SP9: - - - - -

Relevant External Links for PPARG Gene

GeneLoc Exon Structure for
PPARG
ECgene alternative splicing isoforms for
PPARG

Expression for PPARG Gene

mRNA expression in normal human tissues for PPARG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPARG Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x9.0), Adipose - Subcutaneous (x8.6), and Breast - Mammary Tissue (x5.0).

Protein differential expression in normal tissues from HIPED for PPARG Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PPARG Gene



Protein tissue co-expression partners for PPARG Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPARG Gene:

PPARG

SOURCE GeneReport for Unigene cluster for PPARG Gene:

Hs.162646

mRNA Expression by UniProt/SwissProt for PPARG Gene:

P37231-PPARG_HUMAN
Tissue specificity: Highest expression in adipose tissue. Lower in skeletal muscle, spleen, heart and liver. Also detectable in placenta, lung and ovary.
genes like me logo Genes that share expression patterns with PPARG: view

Primer Products

Orthologs for PPARG Gene

This gene was present in the common ancestor of animals.

Orthologs for PPARG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPARG 34 35
  • 99.54 (n)
oppossum
(Monodelphis domestica)
Mammalia PPARG 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPARG 34 35
  • 92.34 (n)
cow
(Bos Taurus)
Mammalia PPARG 34 35
  • 91.02 (n)
mouse
(Mus musculus)
Mammalia Pparg 34 16 35
  • 90.1 (n)
rat
(Rattus norvegicus)
Mammalia Pparg 34
  • 89.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPARG 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPARG 34 35
  • 82.25 (n)
lizard
(Anolis carolinensis)
Reptilia PPARG 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16633 34
African clawed frog
(Xenopus laevis)
Amphibia PPARg 34
zebrafish
(Danio rerio)
Actinopterygii pparg 34 35
  • 67.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta Eip75B 36
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea sex-1 36
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.186 34
Species where no ortholog for PPARG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPARG Gene

ENSEMBL:
Gene Tree for PPARG (if available)
TreeFam:
Gene Tree for PPARG (if available)

Paralogs for PPARG Gene

Variants for PPARG Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PPARG Gene

PPARG_HUMAN-P37231
Genetic variations in PPARG define the body mass index quantitative trait locus 1 (BMIQ1) [MIM:606641]. The body max index (BMI) reflects the amount of fat, lean mass, and body build.
PPARG_HUMAN-P37231
Genetic variations in PPARG influence the carotid intimal medial thickness (CIMT) [MIM:609338]. CIMT is a measure of atherosclerosis that is independently associated with traditional atherosclerotic cardiovascular disease risk factors and coronary atherosclerotic burden. 35 to 45% of the variability in multivariable-adjusted CIMT is explained by genetic factors.

Sequence variations from dbSNP and Humsavar for PPARG Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1800571 Obesity (OBESITY) [MIM:601665], Pathogenic 12,381,349(+) ATCTC(A/C)ACCTT reference, missense
rs28936407 Colon cancer, Colon cancer, Pathogenic 12,416,831(+) GTTTC(A/G)CTCCG intron-variant, reference, missense
rs72551363 Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367], Pathogenic 12,417,048(+) CCTTT(A/T)GGTGA intron-variant, reference, missense
rs72551364 Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367], Pathogenic 12,433,900(+) CAGAC(C/T)GCCCA intron-variant, reference, synonymous-codon, missense
rs121909242 Pathogenic 12,416,825(+) CTGCC(A/C)GTTTC intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PPARG Gene

Variant ID Type Subtype PubMed ID
dgv763e201 CNV deletion 23290073
dgv850e199 CNV deletion 23128226
esv2661678 CNV deletion 23128226
esv2669014 CNV deletion 23128226
esv2724933 CNV deletion 23290073
esv3561485 CNV deletion 23714750
esv3595320 CNV loss 21293372
esv3595321 CNV loss 21293372
esv3595322 CNV gain 21293372
esv3595323 CNV gain 21293372
esv4138 CNV loss 18987735
esv7808 CNV loss 19470904
nsv1000995 CNV gain 25217958
nsv1073206 CNV deletion 25765185
nsv1112379 CNV deletion 24896259
nsv1131682 CNV deletion 24896259
nsv1147269 CNV deletion 26484159
nsv3702 CNV deletion 18451855
nsv589700 CNV loss 21841781
nsv7351 OTHER inversion 18451855
nsv979804 CNV duplication 23825009

Variation tolerance for PPARG Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.88; 67.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPARG Gene

Human Gene Mutation Database (HGMD)
PPARG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPARG

Disorders for PPARG Gene

MalaCards: The human disease database

(46) MalaCards diseases for PPARG Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lipodystrophy, familial partial, type 3
  • insulin resistance, severe, digenic
obesity
  • obesity, association with
carotid intimal medial thickness 1
diabetes mellitus, noninsulin-dependent
  • diabetes, type 2
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search PPARG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PPARG_HUMAN
  • Glioma 1 (GLM1) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269 PubMed:10851250}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. Polymorphic PPARG alleles have been found to be significantly over-represented among a cohort of American patients with sporadic glioblastoma multiforme suggesting a possible contribution to disease susceptibility.
  • Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367]: A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia. {ECO:0000269 PubMed:11788685, ECO:0000269 PubMed:12453919}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in PPARG can lead to type 2 insulin-resistant diabetes and hyptertension. PPARG mutations may be associated with colon cancer. {ECO:0000269 PubMed:10394368}.
  • Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269 PubMed:9753710}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Genatlas disease for PPARG Gene

marked obesity with a high body-mass index and a defect in the regulation of adipocyte differentiation associated with type 2 diabetes

Relevant External Links for PPARG

Genetic Association Database (GAD)
PPARG
Human Genome Epidemiology (HuGE) Navigator
PPARG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPARG
genes like me logo Genes that share disorders with PPARG: view

Publications for PPARG Gene

  1. PPARgamma gene C161T substitution alters lipid profile in Chinese patients with coronary artery disease and type 2 diabetes mellitus. (PMID: 20334678) Wan J. … Roy S. (Cardiovasc Diabetol 2010) 3 22 46 64
  2. Relationship of five type 2 diabetes candidate gene polymorphisms to the age at diagnosis of diabetes in the Slovakian population. (PMID: 20437825) Kozarova M. … Tkac I. (Bratisl Lek Listy 2010) 3 22 46 64
  3. A selective peroxisome proliferator-activated receptor-gamma modulator, telmisartan, binds to the receptor in a different fashion from thiazolidinediones. (PMID: 19147680) Tagami T. … Naruse M. (Endocrinology 2009) 3 22 25 64
  4. Primary pioglitazone failure in Asian Indian diabetics is not related to common Pro12Ala polymorph of PPAR-gamma gene. (PMID: 20112822) Mathur S.K. … Mathur M. (Indian J. Physiol. Pharmacol. 2009) 3 22 46 64
  5. [Effect of the Gly972Arg, SNP43 and Prol2Ala polymorphisms of the genes IRS1, CAPN10 and PPARG2 on secondary failure to sulphonylurea and metformin in patients with type 2 diabetes in YucatA!n, MAcxico]. (PMID: 19418728) GarcA-a-Escalante M.G. … Laviada-Molina H. (Invest Clin 2009) 3 22 46 64

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