Protein:PPARG |
Protein Summary |
Gene summary |
| Gene name: PPARG | ASpdb.0 ID: 5468 | Gene | Gene symbol | PPARG | Gene ID | 5468 |
| Gene name | peroxisome proliferator activated receptor gamma |
| Synonyms | CIMT1|GLM1|NR1C3|PPARG1|PPARG2|PPARG5|PPARgamma |
| Cytomap | 3p25.2 |
| Type of gene | protein-coding |
| Description | peroxisome proliferator-activated receptor gammaPPAR-gammanuclear receptor subfamily 1 group C member 3peroxisome proliferator-activated receptor-gamma 5peroxisome proliferator-activated receptor-gamma splicing |
| Modification date | 20240416 |
| UniProtAcc | P37231 |
Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Gene | PPARG | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12700342 |
| Gene | PPARG | GO:0000976 | transcription cis-regulatory region binding | 18293083 |
| Gene | PPARG | GO:0000978 | RNA polymerase II cis-regulatory region sequence-specific DNA binding | 25704091 |
| Gene | PPARG | GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | 25704091 |
| Gene | PPARG | GO:0003677 | DNA binding | 18382765 |
| Gene | PPARG | GO:0003700 | DNA-binding transcription factor activity | 9568715 |
| Gene | PPARG | GO:0004879 | nuclear receptor activity | 10622252|16239304 |
| Gene | PPARG | GO:0005634 | nucleus | 18382765 |
| Gene | PPARG | GO:0005634 | nucleus | 9568716 |
| Gene | PPARG | GO:0005654 | nucleoplasm | - |
| Gene | PPARG | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 18293083 |
| Gene | PPARG | GO:0007165 | signal transduction | 9568716 |
| Gene | PPARG | GO:0008270 | zinc ion binding | 19043829 |
| Gene | PPARG | GO:0010628 | positive regulation of gene expression | 18382765 |
| Gene | PPARG | GO:0010629 | negative regulation of gene expression | 28467929 |
| Gene | PPARG | GO:0010742 | macrophage derived foam cell differentiation | - |
| Gene | PPARG | GO:0010745 | negative regulation of macrophage derived foam cell differentiation | 19114110 |
| Gene | PPARG | GO:0010875 | positive regulation of cholesterol efflux | 24751522 |
| Gene | PPARG | GO:0010887 | negative regulation of cholesterol storage | 19114110 |
| Gene | PPARG | GO:0010891 | negative regulation of sequestering of triglyceride | 12700342 |
| Gene | PPARG | GO:0016525 | negative regulation of angiogenesis | 28566713 |
| Gene | PPARG | GO:0030224 | monocyte differentiation | 9568716 |
| Gene | PPARG | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 31023188 |
| Gene | PPARG | GO:0035357 | peroxisome proliferator activated receptor signaling pathway | 25704091 |
| Gene | PPARG | GO:0042277 | peptide binding | 19043829 |
| Gene | PPARG | GO:0042789 | mRNA transcription by RNA polymerase II | 16373399 |
| Gene | PPARG | GO:0042953 | lipoprotein transport | 9568716 |
| Gene | PPARG | GO:0043231 | intracellular membrane-bounded organelle | - |
| Gene | PPARG | GO:0043235 | receptor complex | 19043829 |
| Gene | PPARG | GO:0043407 | negative regulation of MAP kinase activity | 18382765 |
| Gene | PPARG | GO:0043537 | negative regulation of blood vessel endothelial cell migration | 28566713 |
| Gene | PPARG | GO:0043565 | sequence-specific DNA binding | 9568716 |
| Gene | PPARG | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9568715|12700342|16239304|16373399|17611579|24751522 |
| Gene | PPARG | GO:0046965 | nuclear retinoid X receptor binding | 9568715 |
| Gene | PPARG | GO:0048384 | retinoic acid receptor signaling pathway | 16239304 |
| Gene | PPARG | GO:0048469 | cell maturation | 9568716 |
| Gene | PPARG | GO:0048662 | negative regulation of smooth muscle cell proliferation | 18382765|20622039|31023188 |
| Gene | PPARG | GO:0050692 | DNA binding domain binding | 19043829 |
| Gene | PPARG | GO:0050693 | LBD domain binding | 19043829 |
| Gene | PPARG | GO:0051091 | positive regulation of DNA-binding transcription factor activity | 18293083 |
| Gene | PPARG | GO:0071404 | cellular response to low-density lipoprotein particle stimulus | 9568716 |
| Gene | PPARG | GO:0090575 | RNA polymerase II transcription regulator complex | 9568716|16373399 |
| Gene | PPARG | GO:0140297 | DNA-binding transcription factor binding | 10622252 |
| Gene | PPARG | GO:1901202 | negative regulation of extracellular matrix assembly | 25704091 |
| Gene | PPARG | GO:1902894 | negative regulation of miRNA transcription | 24751522 |
| Gene | PPARG | GO:1902895 | positive regulation of miRNA transcription | 25704091|28566713 |
| Gene | PPARG | GO:1904706 | negative regulation of vascular associated smooth muscle cell proliferation | 28522568 |
| Gene | PPARG | GO:1904893 | negative regulation of receptor signaling pathway via STAT | 28467929 |
| Gene | PPARG | GO:1905599 | positive regulation of low-density lipoprotein receptor activity | 9568716 |
| Gene | PPARG | GO:2000272 | negative regulation of signaling receptor activity | 12700342 |
AS Summary |
Information of the canonical protein with experimentally identified structure from PDB (2023). |
| UniProt Acc | File name | PDB ID | Method | Resolution | Chain | Start | End |
| P37231-1 | P37231-1_3e00_D.pdb | 3E00 | X-ray | 3.1 | D | 135 | 505 |
ASpdb's canonical and alternatively spliced isoform information. |
| accession_id | gene_name | canonical_id | alternative_id | canonical_length | alternative_length | canonical_start | canonical_end | type | originalSEQ | variationSEQ | alternative_start | alternative_end |
| P37231 | PPARG | P37231-1 | P37231-2 | 505 | 477 | 1 | 28 | Deletion | none | none | 0 | 0 |
| P37231 | PPARG | P37231-1 | P37231-3 | 505 | 186 | 1 | 28 | Deletion | none | none | 0 | 0 |
| P37231 | PPARG | P37231-1 | P37231-3 | 505 | 186 | 207 | 213 | Substitution | AIRFGRM | EELQKDS | 179 | 185 |
| P37231 | PPARG | P37231-1 | P37231-3 | 505 | 186 | 214 | 504 | Deletion | none | none | 185 | 185 |
Multiple sequence alignment of our canonical and alternatively spliced PPARG |
Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of PPARG |
| UniProt-id | ENSG | ENST | ENSP |
| P37231-1 | ENSG00000132170.24 | ENST00000287820.10 | ENSP00000287820.6 |
| UniProt-id | NM ID | NP ID |
| P37231-1 | NM_015869.4 | NP_056953.2 |
Amino acid sequences of our canonical and alternatively spliced PPARG |
| accession_id | Protein sequence |
| P37231-1 | MGETLGDSPIDPESDSFTDTLSANISQEMTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYEDIPFTRTDPVV ADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNC RIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTT DKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKSIPGFVNLDLNDQVTLLKYGVHEIIYTMLAS LMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLNVKPIEDIQDNLLQALELQLK |
| P37231-2 | MTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYEDIPFTRTDPVVADYKYDLKLQEYQSAIKVEPASPPYYSE KTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNAI RFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTTDKSPFVIYDMNSLMMGEDKIKFKHITPL QEQSKEVAIRIFQGCQFRSVEAVQEITEYAKSIPGFVNLDLNDQVTLLKYGVHEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPF GDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLNVKPIEDIQDNLLQALELQLKLNHPESSQLFAKLLQKMTDLRQIVTEHV |
| P37231-3 | MTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYEDIPFTRTDPVVADYKYDLKLQEYQSAIKVEPASPPYYSE KTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNEE |
Protein Functional Features |
Main function of this protein. (from UniProt) |
| PPARG (go to UniProt):P37231 |
Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained protein feature among the 13 regional features. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| P37231 | Domain | 238 | 503 | Note=NR LBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01189 | Type=Deletion;Start=214;End=504 |
| P37231 | DNA binding | 136 | 210 | Note=Nuclear receptor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00407 | Type=Substitution;Start=207;End=213 |
| P37231 | Region | 205 | 280 | Note=Interaction with FAM120B;Ontology_term=ECO:0000250;evidence=ECO:0000250 | Type=Substitution;Start=207;End=213 |
| P37231 | Region | 205 | 280 | Note=Interaction with FAM120B;Ontology_term=ECO:0000250;evidence=ECO:0000250 | Type=Deletion;Start=214;End=504 |
| P37231 | Motif | 495 | 503 | Note=9aaTAD;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30468856;Dbxref=PMID:30468856 | Type=Deletion;Start=214;End=504 |
Gene Isoform Structures and Expression Levels for PPARG |
Gene structures of our canonical and alternative spliced genes of PPARG* Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Expression levels of gene isoforms across GTEx. |
Expression levels of gene isoforms across TCGA. |
Protein Structures |
PDB and CIF files of the predicted protein structures * Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
| 3D view using mol* of P37231-1 |
| 3D view using mol* of P37231-2 |
| 3D view using mol* of P37231-3 |
pLDDT Score Distribution |
pLDDT score distribution of the predicted protein structures from AlphaFold2* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
| pLDDT distribution across the protein length of P37231-1 |
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| pLDDT distribution across the protein length of P37231-2 |
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| pLDDT distribution across the protein length of P37231-3 |
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Ramachandran Plot of Protein Structures |
Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide. |
| Ramachandran plot of P37231-1 |
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| Ramachandran plot of P37231-2 |
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| Ramachandran plot of P37231-3 |
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Potential Active Site Information |
The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite. |
| UniProt-id | Site score | Size | D score | Volume | Exposure | Enclosure | Contact | Phobic | Philic | Balance | Don/Acc | Residues |
| P37231-1 | 1.204 | 257 | 1.248 | 430.465 | 0.28 | 0.919 | 1.214 | 2.44 | 0.749 | 3.259 | 0.669 | 254,255,256,292,294,295,309,310,312,313,314,316,31 7,319,320,323,324,351,354,355,357,358,361,367,368, 369,370,371,372,376,381,384,391,392,395,477,481,49 3,497,501 |
| P37231-2 | 1.162 | 336 | 1.181 | 594.076 | 0.337 | 0.911 | 1.203 | 1.961 | 0.938 | 2.091 | 0.879 | 226,227,228,255,259,263,264,265,266,267,273,277,28 0,281,282,283,284,285,286,287,288,289,291,292,295, 323,326,327,329,330,332,333,339,340,341,342,343,34 4,348,353,363,364,367,449,453,465,469,473 |
| P37231-3 | 0.731 | 47 | 0.597 | 106.673 | 0.569 | 0.64 | 0.879 | 0.226 | 1.325 | 0.17 | 0.662 | 120,121,122,123,124,132,136,179,180,181,182,183,18 4 |
Protein Structure and Feature Comparision |
Protein Structure Comparision Using Template Modeling Scores (TM-score). |
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Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green) |
| 3D view using mol* of P37231-1_P37231-1_3e00_D.pdb |
Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of P37231-1_3e00_D_P37231-2.pdb |
| 3D view using mol* of P37231-1_3e00_D_P37231-3.pdb |
Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green) |
| 3D view using mol* of P37231-1_P37231-2.pdb |
| 3D view using mol* of P37231-1_P37231-3.pdb |
Protein Feature Comparison of the protein sequendary structures among the protiens. |
| ./stats/secondary_structure/figure/P37231-1_vs_P37231-2.png |
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| ./stats/secondary_structure/figure/P37231-1_vs_P37231-3.png |
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Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens. |
| ./stats/relative_asa/P37231-1_vs_P37231-2.png |
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| ./stats/relative_asa/P37231-1_vs_P37231-3.png |
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Protein-Protein Interaction |
Interactors from UniProt. |
| Accession_id | Subsection | Start | End | Funcitonal feature | Splicing information |
| P37231 | Region | 205 | 280 | Note=Interaction with FAM120B;Ontology_term=ECO:0000250;evidence=ECO:0000250 | Type=Substitution;Start=207;End=213 |
| P37231 | Region | 205 | 280 | Note=Interaction with FAM120B;Ontology_term=ECO:0000250;evidence=ECO:0000250 | Type=Deletion;Start=214;End=504 |
Interactors from STRING. |
| Gene name | Interactors |
Related Drugs to PPARG |
Drugs targeting this gene/protein. (DrugBank) |
| UniProt accession | Gene name | DrugBank ID | Drug name | Drug group | Actions |
| P37231 | PPARG | DB08435 | (5E,14E)-11-oxoprosta-5,9,12,14-tetraen-1-oic acid | experimental | |
| P37231 | PPARG | DB14009 | Medical Cannabis | experimental, investigational | |
| P37231 | PPARG | DB08302 | 3-[5-(2-nitropent-1-en-1-yl)furan-2-yl]benzoic acid | experimental | |
| P37231 | PPARG | DB08604 | Triclosan | approved, investigational | |
| P37231 | PPARG | DB07675 | (2S)-2-ETHOXY-3-{4-[2-(10H-PHENOXAZIN-10-YL)ETHOXY]PHENYL}PROPANOIC ACID | experimental | |
| P37231 | PPARG | DB13961 | Fish oil | approved, nutraceutical | |
| P37231 | PPARG | DB08402 | 2-[(2,4-DICHLOROBENZOYL)AMINO]-5-(PYRIMIDIN-2-YLOXY)BENZOIC ACID | experimental | |
| P37231 | PPARG | DB08560 | 3-FLUORO-N-[1-(4-FLUOROPHENYL)-3-(2-THIENYL)-1H-PYRAZOL-5-YL]BENZENESULFONAMIDE | experimental | |
| P37231 | PPARG | DB11133 | Omega-3 fatty acids | approved, nutraceutical | ligand |
| P37231 | PPARG | DB08121 | (2S)-2-(biphenyl-4-yloxy)-3-phenylpropanoic acid | experimental | |
| P37231 | PPARG | DB12007 | Isoflavone | experimental | agonist |
| P37231 | PPARG | DB11811 | Arhalofenate | investigational | |
| P37231 | PPARG | DB07842 | (2S)-2-(4-ethylphenoxy)-3-phenylpropanoic acid | experimental | |
| P37231 | PPARG | DB09213 | Dexibuprofen | approved, investigational | activator |
| P37231 | PPARG | DB09201 | Ciglitazone | experimental | agonist |
| P37231 | PPARG | DB09198 | Lobeglitazone | experimental | activator |
| P37231 | PPARG | DB11672 | Curcumin | approved, investigational | |
| P37231 | PPARG | DB07302 | 9(S)-HODE | experimental | |
| P37231 | PPARG | DB07863 | 2-chloro-5-nitro-N-phenylbenzamide | experimental | |
| P37231 | PPARG | DB13873 | Fenofibric acid | approved | |
| P37231 | PPARG | DB09061 | Cannabidiol | approved, investigational | activator |
| P37231 | PPARG | DB07724 | Indeglitazar | experimental | |
| P37231 | PPARG | DB09006 | Clinofibrate | experimental | |
| P37231 | PPARG | DB07723 | 3-(5-methoxy-1H-indol-3-yl)propanoic acid | experimental | |
| P37231 | PPARG | DB08915 | Aleglitazar | investigational | agonist |
| P37231 | PPARG | DB08760 | (2S)-2-(4-chlorophenoxy)-3-phenylpropanoic acid | experimental | |
| P37231 | PPARG | DB07509 | difluoro(5-{2-[(5-octyl-1H-pyrrol-2-yl-kappaN)methylidene]-2H-pyrrol-5-yl-kappaN}pentanoato)boron | experimental | |
| P37231 | PPARG | DB12662 | Naveglitazar | investigational | |
| P37231 | PPARG | DB14011 | Nabiximols | investigational | |
| P37231 | PPARG | DB06521 | Ertiprotafib | investigational | |
| P37231 | PPARG | DB06533 | Ragaglitazar | investigational | |
| P37231 | PPARG | DB07172 | (5R,6E,8Z,11Z,14Z,17Z)-5-hydroxyicosa-6,8,11,14,17-pentaenoic acid | experimental | |
| P37231 | PPARG | DB03756 | Doconexent | approved, investigational | activator |
| P37231 | PPARG | DB06536 | Tesaglitazar | investigational | |
| P37231 | PPARG | DB03600 | Capric acid | experimental | ligand |
| P37231 | PPARG | DB00197 | Troglitazone | approved, investigational, withdrawn | agonist, regulator |
| P37231 | PPARG | DB00731 | Nateglinide | approved, investigational | agonist |
| P37231 | PPARG | DB02746 | Phthalic Acid | experimental | |
| P37231 | PPARG | DB00132 | alpha-Linolenic acid | approved, investigational, nutraceutical | |
| P37231 | PPARG | DB00795 | Sulfasalazine | approved | agonist |
| P37231 | PPARG | DB02709 | Resveratrol | investigational | |
| P37231 | PPARG | DB14034 | Darglitazone | experimental | agonist |
| P37231 | PPARG | DB07111 | (4S,5E,7Z,10Z,13Z,16Z,19Z)-4-hydroxydocosa-5,7,10,13,16,19-hexaenoic acid | experimental | |
| P37231 | PPARG | DB00159 | Icosapent | approved, nutraceutical | agonist, regulator |
| P37231 | PPARG | DB02266 | Flufenamic acid | approved | agonist |
| P37231 | PPARG | DB00845 | Clofazimine | approved, investigational | modulator |
| P37231 | PPARG | DB00912 | Repaglinide | approved, investigational | agonist |
| P37231 | PPARG | DB06908 | (2S)-3-(1-{[2-(2-CHLOROPHENYL)-5-METHYL-1,3-OXAZOL-4-YL]METHYL}-1H-INDOL-5-YL)-2-ETHOXYPROPANOIC ACID | experimental | |
| P37231 | PPARG | DB00966 | Telmisartan | approved, investigational | partial agonist |
| P37231 | PPARG | DB07053 | 2-{5-[3-(7-PROPYL-3-TRIFLUOROMETHYLBENZO[D]ISOXAZOL-6-YLOXY)PROPOXY]INDOL-1-YL}ETHANOIC ACID | experimental | |
| P37231 | PPARG | DB01014 | Balsalazide | approved, investigational | agonist |
| P37231 | PPARG | DB01393 | Bezafibrate | approved, investigational | agonist |
| P37231 | PPARG | DB01050 | Ibuprofen | approved | activator |
| P37231 | PPARG | DB01067 | Glipizide | approved, investigational | agonist |
| P37231 | PPARG | DB01118 | Amiodarone | approved, investigational | agonist |
| P37231 | PPARG | DB06926 | (9Z,11E,13S)-13-hydroxyoctadeca-9,11-dienoic acid | experimental | |
| P37231 | PPARG | DB01132 | Pioglitazone | approved, investigational | agonist |
| P37231 | PPARG | DB01252 | Mitiglinide | investigational | agonist |
| P37231 | PPARG | DB00573 | Fenoprofen | approved | |
| P37231 | PPARG | DB06510 | Muraglitazar | investigational | |
| P37231 | PPARG | DB14635 | Curcumin sulfate | experimental | |
| P37231 | PPARG | DB04224 | Oleic Acid | approved, investigational, vet_approved | ligand |
| P37231 | PPARG | DB00313 | Valproic acid | approved, investigational | |
| P37231 | PPARG | DB05187 | Elafibranor | investigational | |
| P37231 | PPARG | DB05490 | AMG-131 | investigational | partial agonist |
| P37231 | PPARG | DB00328 | Indomethacin | approved, investigational | activator |
| P37231 | PPARG | DB05854 | CLX-0921 | investigational | |
| P37231 | PPARG | DB04971 | Reglitazar | investigational | |
| P37231 | PPARG | DB04689 | 2-{5-[3-(6-BENZOYL-1-PROPYLNAPHTHALEN-2-YLOXY)PROPOXY]INDOL-1-YL}ETHANOIC ACID | experimental | |
| P37231 | PPARG | DB00412 | Rosiglitazone | approved, investigational | agonist |
| P37231 | PPARG | DB04270 | (S)-3-(4-(2-Carbazol-9-Yl-Ethoxy)-Phenyl)-2-Ethoxy-Propionic Acid | experimental | |
| P37231 | PPARG | DB07208 | (8E,10S,12Z)-10-hydroxy-6-oxooctadeca-8,12-dienoic acid | experimental | |
| P37231 | PPARG | DB00244 | Mesalazine | approved | agonist |
| P37231 | PPARG | DB07209 | (8R,9Z,12Z)-8-hydroxy-6-oxooctadeca-9,12-dienoic acid | experimental |
Related Diseases to PPARG |
Previous studies relating to the alternative splicing of PPARG and disease information from the MeSH term (PubMed) |
| Gene | PMID | Title | Abstract | MeSH ID | MeSH term |
| PPARG | 12588773 | A functional polymorphism in a STAT5B site of the human PPAR gamma 3 gene promoter affects height and lipid metabolism in a French population. | The peroxisome proliferator-activated receptor-gamma (PPARgamma) plays a role in adipocyte differentiation and insulin sensitization. It has been shown that genetic variation in the PPARgamma gene alters body weight control, lipid and insulin homeostasis, and the susceptibility to type 2 diabetes. Four PPARgamma isoforms are generated by alternative splicing and promoter usage. PPARgamma3 is only expressed in adipose tissue, colon, and macrophages and therefore seems to be a good candidate gene for metabolic and cardiovascular-associated diseases. In the present study, we looked for genetic variation in the PPARgamma3 promoter. | D008052 | Lipid Metabolism, Inborn Errors |
| PPARG | 16180511 | The difference of mutation in the peroxisome proliferator activated receptor gamma2 gene among people at high altitudes and low altitudes in Bolivia. | Peroxisome proliferator activated receptor (PPAR) gamma is present in two isoforms generated by alternative splicing, PPAR gamma 1 and PPAR gamma 2. A Pro12Ala polymorphism in human PPAR gamma 2 moderately reduces its transcriptional activity, and thus PPAR gamma 2 is thought to be a promising candidate gene for several human disorders, including obesity and type 2 diabetes mellitus. In this report, we examined the polymorphism of the PPAR gamma 2 gene in people at high and low altitudes in Bolivia, and found a significant difference in the frequency of Ala carriers (Pro/Ala and Ala/Ala) between 153 native high-altitude Bolivian subjects (64.1%) and 288 low-altitude Bolivian subjects (37.9%). The frequency of this Ala allele in Bolivian subjects was fairly higher than that in other ethnic groups. As body mass index, however, was not associated with Pro12Ala polymorphism of the PPAR gamma 2 gene among either the high altitude Bolivians or low altitude Bolivians, Pro12Ala polymorphism of the gene has little relationship to obesity in Bolivians. | D009765 | Obesity |
| PPARG | 16513680 | Peroxisome proliferator-activated receptor (PPAR) gamma gene polymorphisms and colorectal cancer risk among Chinese in Singapore. | Peroxisome proliferator-activated receptor (PPAR) gamma is a ligand-activated nuclear receptor that plays a key role in adipogenesis and adipocyte gene expression, and has recently been linked with possible antineoplastic effects in colonic carcinogenesis. PPARgamma2 and gamma3 are two transcripts arising from the PPARgamma gene through differential promoter usage and alternative splicing. We investigated the associations between PPARgamma2 Pro12Ala and PPARgamma3 C-681G gene polymorphisms and colorectal cancer (CRC) risk in a case-control study nested within the Singapore Chinese Health Study. Genotypes for the PPARgamma2 and PPARgamma3 polymorphisms were determined on 362 incident CRC cases and 1164 cohort controls by direct sequencing and by fluorogenic 5'-nuclease assay. Unconditional logistic regression models were used for statistical analyses. With adjustment for CRC risk factors, subjects with one or two copies of the G allele of the PPARgamma2 Pro12Ala polymorphism showed a statistically significant reduction in risk compared to those with the CC genotype [odds ratio (OR)=0.53, 95% confidence interval (CI)=0.30-0.92]. For the PPARgamma3 C-681G polymorphism, subjects with one or two copies of the C allele showed a reduction in risk compared to those with the GG genotype (OR=0.72, 95% CI=0.51-1.04). When PPARgamma2 and PPARgamma3 genotypes were considered simultaneously, the number of putative low-risk genotypes was significantly associated with reduced risk of CRC in a gene-dose-dependent manner; the OR (95% CI) was 0.72 (0.49-1.07) among subjects possessing one low-risk genotype (either PPARgamma2 or PPARgamma3), and the comparable figure among subjects possessing both low-risk genotypes was 0.19 (0.07-0.51). | D015179 | Colorectal Neoplasms |
| PPARG | 16513680 | Peroxisome proliferator-activated receptor (PPAR) gamma gene polymorphisms and colorectal cancer risk among Chinese in Singapore. | Peroxisome proliferator-activated receptor (PPAR) gamma is a ligand-activated nuclear receptor that plays a key role in adipogenesis and adipocyte gene expression, and has recently been linked with possible antineoplastic effects in colonic carcinogenesis. PPARgamma2 and gamma3 are two transcripts arising from the PPARgamma gene through differential promoter usage and alternative splicing. We investigated the associations between PPARgamma2 Pro12Ala and PPARgamma3 C-681G gene polymorphisms and colorectal cancer (CRC) risk in a case-control study nested within the Singapore Chinese Health Study. Genotypes for the PPARgamma2 and PPARgamma3 polymorphisms were determined on 362 incident CRC cases and 1164 cohort controls by direct sequencing and by fluorogenic 5'-nuclease assay. Unconditional logistic regression models were used for statistical analyses. With adjustment for CRC risk factors, subjects with one or two copies of the G allele of the PPARgamma2 Pro12Ala polymorphism showed a statistically significant reduction in risk compared to those with the CC genotype [odds ratio (OR)=0.53, 95% confidence interval (CI)=0.30-0.92]. For the PPARgamma3 C-681G polymorphism, subjects with one or two copies of the C allele showed a reduction in risk compared to those with the GG genotype (OR=0.72, 95% CI=0.51-1.04). When PPARgamma2 and PPARgamma3 genotypes were considered simultaneously, the number of putative low-risk genotypes was significantly associated with reduced risk of CRC in a gene-dose-dependent manner; the OR (95% CI) was 0.72 (0.49-1.07) among subjects possessing one low-risk genotype (either PPARgamma2 or PPARgamma3), and the comparable figure among subjects possessing both low-risk genotypes was 0.19 (0.07-0.51). | D020022 | Genetic Predisposition to Disease |
| PPARG | 20403997 | Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer. | Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase (HMGCR), the rate-limiting enzyme in cholesterol synthesis, modifies the effect of statins on serum cholesterol levels. Long-term use of statins is associated with a reduced risk of colorectal cancer (CRC) in some, but not all, studies. We genotyped variants in 40 candidate genes important for cholesterol synthesis and metabolism in a population-based case-control study of CRC involving 2,138 incident cases and 2,049 population-based controls. We identified a single-nucleotide polymorphism in the HMGCR gene that significantly modified the protective association between statins and CRC risk. Compared with nonusers, the unadjusted odds ratio of CRC among statin users with the A/A genotype of rs12654264 in HMGCR was 0.3 (95% confidence interval, 0.18-0.51) and among statin users with the T/T genotype was 0.66 (95% confidence interval, 0.41-1.06; P-interaction = 0.0012). This genetic variant (A/A genotype of rs12654264) also was associated with lower serum levels of low-density lipoprotein among all cases and controls. In colon cancer cell lines, the reduction in cholesterol levels after statin treatment was substantially stronger in cells carrying the A/A genotype, and this difference was related to alternative splicing involving the HMGCR statin-binding domain. We anticipate that these data may advance the development of personalized statin use for reducing the risk of cancer as well as cardiovascular disease among the approximately 25 million people currently using statins worldwide. | D015179 | Colorectal Neoplasms |
Clinically important variants in PPARG |
(ClinVar, 04/20/2024) |
| accession_id | uniprot_id | gene_name | Type | Variant | Clinical_significance |
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