PPARG Chromosome 3
Peroxisome proliferator activated receptor gamma
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What This Gene Does
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]
Gene Info
Gene Group
Peroxisome proliferator activated receptors
Locus Type
gene with protein product
Location
3p25.2
Ensembl
ENSG00000132170
Associated Conditions (16)
Type 2 diabetes mellitus
PPARG-related familial partial lipodystrophy
Obesity
INSULIN RESISTANCE
DIGENIC
PPARG-related disorder
Monogenic diabetes
Inborn genetic diseases
Colon adenocarcinoma
CAROTID INTIMAL MEDIAL THICKNESS 1
Neoplasm
Carcinoma of colon
DIABETES MELLITUS
TYPE II
Lipodystrophy
Familial partial lipodystrophy
Key Variants
RS1553638903
association
Type 2 diabetes mellitus, Type 2 diabetes mellitus
Health Risk
RS1553638909
association
Type 2 diabetes mellitus, Type 2 diabetes mellitus
Health Risk
RS948820149
association
Type 2 diabetes mellitus, Type 2 diabetes mellitus
Health Risk
RS112174008
Conflicting classifications of pathogenicity
PPARG-related familial partial lipodystrophy, Obesity, INSULIN RESISTANCE
Health Risk
RS139894525
Conflicting classifications of pathogenicity
Monogenic diabetes, PPARG-related disorder, Monogenic diabetes
Health Risk
RS147975759
Conflicting classifications of pathogenicity
Obesity, INSULIN RESISTANCE, DIGENIC
Health Risk
RS201126401
Conflicting classifications of pathogenicity
Obesity, PPARG-related familial partial lipodystrophy, INSULIN RESISTANCE
Health Risk
RS28763894
Conflicting classifications of pathogenicity
INSULIN RESISTANCE, DIGENIC, Obesity
Health Risk
RS370830238
Conflicting classifications of pathogenicity
PPARG-related familial partial lipodystrophy, Obesity, INSULIN RESISTANCE
Health Risk
RS41415646
Conflicting classifications of pathogenicity
PPARG-related familial partial lipodystrophy, Obesity, INSULIN RESISTANCE
Health Risk
RS751812338
Conflicting classifications of pathogenicity
Health Risk
RS777334819
Conflicting classifications of pathogenicity
Obesity, PPARG-related familial partial lipodystrophy, INSULIN RESISTANCE
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553638903 | Health Risk | association | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS1553638909 | Health Risk | association | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS948820149 | Health Risk | association | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS112174008 | Health Risk | Conflicting classifications of pathogenicity | PPARG-related familial partial lipodystrophy, Obesity, INSULIN RESISTANCE |
| RS139894525 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, PPARG-related disorder, Monogenic diabetes |
| RS147975759 | Health Risk | Conflicting classifications of pathogenicity | Obesity, INSULIN RESISTANCE, DIGENIC |
| RS201126401 | Health Risk | Conflicting classifications of pathogenicity | Obesity, PPARG-related familial partial lipodystrophy, INSULIN RESISTANCE |
| RS28763894 | Health Risk | Conflicting classifications of pathogenicity | INSULIN RESISTANCE, DIGENIC, Obesity |
| RS370830238 | Health Risk | Conflicting classifications of pathogenicity | PPARG-related familial partial lipodystrophy, Obesity, INSULIN RESISTANCE |
| RS41415646 | Health Risk | Conflicting classifications of pathogenicity | PPARG-related familial partial lipodystrophy, Obesity, INSULIN RESISTANCE |
| RS751812338 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777334819 | Health Risk | Conflicting classifications of pathogenicity | Obesity, PPARG-related familial partial lipodystrophy, INSULIN RESISTANCE |
| RS1326880981 | Health Risk | Likely pathogenic | CAROTID INTIMAL MEDIAL THICKNESS 1, PPARG-related familial partial lipodystrophy, CAROTID INTIMAL MEDIAL THICKNESS 1 |
| RS1378972597 | Health Risk | Likely pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS148195788 | Health Risk | Likely pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS150296212 | Health Risk | Likely pathogenic | PPARG-related familial partial lipodystrophy, INSULIN RESISTANCE, DIGENIC |
| RS1553643326 | Health Risk | Likely pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS1553647989 | Health Risk | Likely pathogenic | PPARG-related familial partial lipodystrophy, Neoplasm, PPARG-related familial partial lipodystrophy |
| RS1553653993 | Health Risk | Likely pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS2049559215 | Health Risk | Likely pathogenic | Obesity, Obesity |
| RS2050647141 | Health Risk | Likely pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS2050647473 | Health Risk | Likely pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS2050651799 | Health Risk | Likely pathogenic | — |
| RS2125177235 | Health Risk | Likely pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS2125284331 | Health Risk | Likely pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS2125284643 | Health Risk | Likely pathogenic | — |
| RS2125285337 | Health Risk | Likely pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS2470725074 | Health Risk | Likely pathogenic | PPARG-related disorder, PPARG-related disorder |
| RS780238349 | Health Risk | Likely pathogenic | — |
| RS121909242 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS121909243 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS121909245 | Health Risk | Pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS121909246 | Health Risk | Pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS1553650477 | Health Risk | Pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS2050642774 | Health Risk | Pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS2051760352 | Health Risk | Pathogenic | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2125215016 | Health Risk | Pathogenic | DIABETES MELLITUS, TYPE II, DIGENIC |
| RS2125252529 | Health Risk | Pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS2125323710 | Health Risk | Pathogenic | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS2470895197 | Health Risk | Pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS2470953036 | Health Risk | Pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS587776687 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS72551362 | Health Risk | Pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS72551363 | Health Risk | Pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS770557781 | Health Risk | Pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related disorder, PPARG-related familial partial lipodystrophy |
| RS121909244 | Health Risk | Pathogenic/Likely pathogenic | PPARG-related familial partial lipodystrophy, Lipodystrophy, PPARG-related familial partial lipodystrophy |
| RS1354592503 | Health Risk | Pathogenic/Likely pathogenic | PPARG-related familial partial lipodystrophy, Familial partial lipodystrophy, PPARG-related disorder |
| RS72551364 | Health Risk | Pathogenic/Likely pathogenic | PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy |