{
  "url": "https://dantelabs.com/cs/genes/pparg",
  "gene": {
    "slug": "pparg",
    "symbol": "PPARG",
    "name": "peroxisome proliferator activated receptor gamma",
    "hgnc": "HGNC:9236",
    "summary": null,
    "location": "3p25.2",
    "locusType": "gene with protein product",
    "aliases": [
      "PPARG1",
      "PPARG2",
      "NR1C3",
      "PPARgamma"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000132170",
    "entrezId": 5468,
    "omim": [
      "601487"
    ],
    "uniprot": [
      "P37231"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 12289070,
      "end": 12434344,
      "strand": "+",
      "ensemblTranscript": "ENST00000651735.1",
      "refseqTranscript": "NM_138711.6",
      "ensemblProtein": "ENSP00000498313.1",
      "refseqProtein": "NP_619725.3",
      "exons": [
        {
          "start": 12289070,
          "end": 12289134
        },
        {
          "start": 12312380,
          "end": 12312453
        },
        {
          "start": 12379704,
          "end": 12379931
        },
        {
          "start": 12381322,
          "end": 12381491
        },
        {
          "start": 12392614,
          "end": 12392752
        },
        {
          "start": 12405882,
          "end": 12406081
        },
        {
          "start": 12416704,
          "end": 12417154
        },
        {
          "start": 12433898,
          "end": 12434344
        }
      ],
      "cds": {
        "start": 12379712,
        "end": 12434145
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 12328867,
      "end": 12475855,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 11861707,
      "end": 12861706,
      "genes": [
        {
          "symbol": "SYN2",
          "ensemblId": "ENSG00000157152",
          "biotype": "protein_coding",
          "start": 12004325,
          "end": 12192032,
          "strand": "+",
          "slug": "syn2"
        },
        {
          "symbol": "TIMP4",
          "ensemblId": "ENSG00000157150",
          "biotype": "protein_coding",
          "start": 12149834,
          "end": 12159395,
          "strand": "-",
          "slug": "timp4"
        },
        {
          "symbol": "TSEN2",
          "ensemblId": "ENSG00000154743",
          "biotype": "protein_coding",
          "start": 12480529,
          "end": 12541549,
          "strand": "+",
          "slug": "tsen2"
        },
        {
          "symbol": "MKRN2OS",
          "ensemblId": "ENSG00000225526",
          "biotype": "protein_coding",
          "start": 12514934,
          "end": 12561059,
          "strand": "-",
          "slug": "mkrn2os"
        },
        {
          "symbol": "MKRN2",
          "ensemblId": "ENSG00000075975",
          "biotype": "protein_coding",
          "start": 12557011,
          "end": 12603555,
          "strand": "+",
          "slug": "mkrn2"
        },
        {
          "symbol": "RAF1",
          "ensemblId": "ENSG00000132155",
          "biotype": "protein_coding",
          "start": 12582101,
          "end": 12664201,
          "strand": "-",
          "slug": "raf1"
        },
        {
          "symbol": "TMEM40",
          "ensemblId": "ENSG00000088726",
          "biotype": "protein_coding",
          "start": 12733528,
          "end": 12769457,
          "strand": "-",
          "slug": "tmem40"
        },
        {
          "symbol": "CAND2",
          "ensemblId": "ENSG00000144712",
          "biotype": "protein_coding",
          "start": 12796472,
          "end": 12836433,
          "strand": "+",
          "slug": "cand2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289809",
          "biotype": "protein_coding",
          "start": 12825768,
          "end": 12871919,
          "strand": "+"
        },
        {
          "symbol": "RPL32",
          "ensemblId": "ENSG00000144713",
          "biotype": "protein_coding",
          "start": 12834467,
          "end": 12841587,
          "strand": "-",
          "slug": "rpl32"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "lipodystrophy",
        "name": "Lipodystrophy",
        "diseases": [
          {
            "mondoId": "MONDO:0020088",
            "name": "Familial Partial Lipodystrophy",
            "genes": 7,
            "inheritance": null,
            "description": "Includes the LMNA (Dunnigan), PPARG, PLIN1, LIPE, AKT2, CAV1 and PLAAT3 forms, which cause loss of fat from the limbs and buttocks with insulin resistance, diabetes, high triglycerides and fatty liver.",
            "management": "Knowing allows early screening and treatment of diabetes, triglycerides and liver disease, and in selected cases metreleptin.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/cs/conditions/lipodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-skeletal-muscle-fiber-size",
        "name": "Abnormality of skeletal muscle fiber size",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-skeletal-muscle-fiber-size"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-skin",
        "name": "Absent/small skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-skin"
      },
      {
        "slug": "insulin-resistance",
        "name": "Body fails to respond to insulin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/insulin-resistance"
      },
      {
        "slug": "calf-muscle-pseudohypertrophy",
        "name": "Calf muscle pseudohypertrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/calf-muscle-pseudohypertrophy"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "slug": "loss-of-facial-adipose-tissue",
        "name": "Decreased amount of facial fat",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-facial-adipose-tissue"
      },
      {
        "slug": "decreased-circulating-hdl-c-concentration",
        "name": "Decreased circulating high-density lipoprotein cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-hdl-c-concentration"
      },
      {
        "slug": "decreased-resting-energy-expenditure",
        "name": "Decreased resting energy expenditure",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-resting-energy-expenditure"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hirsutism",
        "name": "Excessive hairiness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hirsutism"
      },
      {
        "slug": "generalized-hirsutism",
        "name": "Excessive hairiness over body",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-hirsutism"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperglycemia",
        "name": "High blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "slug": "hyperuricemia",
        "name": "High blood uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperuricemia"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "lipodystrophy",
        "name": "Inability to make and keep healthy fat tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lipodystrophy"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "skeletal-muscle-hypertrophy",
        "name": "Increased skeletal muscle cells",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-hypertrophy"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "increased-waist-to-hip-ratio",
        "name": "Increased waist to hip ratio",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/increased-waist-to-hip-ratio"
      },
      {
        "slug": "insulin-resistant-diabetes-mellitus",
        "name": "Insulin resistant diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/insulin-resistant-diabetes-mellitus"
      },
      {
        "slug": "oligomenorrhea",
        "name": "Light or infrequent menstrual periods",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oligomenorrhea"
      },
      {
        "slug": "loss-of-gluteal-subcutaneous-adipose-tissue",
        "name": "Loss of fat tissue below the skin in gluts",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/loss-of-gluteal-subcutaneous-adipose-tissue"
      },
      {
        "slug": "loss-of-subcutaneous-adipose-tissue-in-limbs",
        "name": "Loss of fat tissue below the skin in limbs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/loss-of-subcutaneous-adipose-tissue-in-limbs"
      },
      {
        "slug": "lipoatrophy",
        "name": "Loss of fat tissue in localized area",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lipoatrophy"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "atherosclerosis",
        "name": "Narrowing and hardening of arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atherosclerosis"
      },
      {
        "slug": "type-ii-diabetes-mellitus",
        "name": "Noninsulin-dependent diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus"
      },
      {
        "slug": "obesity",
        "name": "Obesity",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/obesity"
      },
      {
        "slug": "dysmenorrhea",
        "name": "Painful menstruation",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysmenorrhea"
      },
      {
        "slug": "pancreatitis",
        "name": "Pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatitis"
      },
      {
        "slug": "coronary-artery-atherosclerosis",
        "name": "Plaque build-up in arteries supplying blood to heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coronary-artery-atherosclerosis"
      },
      {
        "slug": "polycystic-ovaries",
        "name": "Polycystic ovaries",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polycystic-ovaries"
      },
      {
        "slug": "secondary-amenorrhea",
        "name": "Previous menstrual periods stop",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/secondary-amenorrhea"
      },
      {
        "slug": "primary-amenorrhea",
        "name": "Primary amenorrhea",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/primary-amenorrhea"
      },
      {
        "slug": "prominent-superficial-veins",
        "name": "Prominent veins",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/prominent-superficial-veins"
      },
      {
        "slug": "prominent-veins-on-trunk",
        "name": "Prominent veins on trunk",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/prominent-veins-on-trunk"
      },
      {
        "slug": "reduced-subcutaneous-adipose-tissue",
        "name": "Reduced fat tissue below the skin",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/reduced-subcutaneous-adipose-tissue"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "thin-skin",
        "name": "Thin skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-skin"
      },
      {
        "slug": "xanthomatosis",
        "name": "Yellow bumps of fatty deposits on skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/xanthomatosis"
      }
    ],
    "related": [
      {
        "slug": "akt2",
        "symbol": "AKT2",
        "name": "AKT serine/threonine kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/akt2"
      },
      {
        "slug": "cav1",
        "symbol": "CAV1",
        "name": "caveolin 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/cav1"
      },
      {
        "slug": "lipe",
        "symbol": "LIPE",
        "name": "lipase E, hormone sensitive type",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/lipe"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "name": "lamin A/C",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/lmna"
      },
      {
        "slug": "plaat3",
        "symbol": "PLAAT3",
        "name": "phospholipase A and acyltransferase 3",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/plaat3"
      },
      {
        "slug": "plin1",
        "symbol": "PLIN1",
        "name": "perilipin 1",
        "shared": 1,
        "url": "https://dantelabs.com/cs/genes/plin1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}