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PPARG

Chr 3p25.2

peroxisome proliferator activated receptor gamma

Aliases:
PPARG1, PPARG2, NR1C3, PPARgamma
MANE:
ENST00000651735.1
OMIM: 601487 ↗NCBI: 5468 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Diabetes with additional phenotypes suggestive of a monogenic aetiology

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Familial diabetes

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Insulin resistance (including lipodystrophy)

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Monogenic diabetes

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Severe insulin resistance and lipodystrophy syndromes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Ectodermal dysplasia

    Unknown

  • Familial cicatricial alopecia

    Unknown

  • Severe early-onset obesity

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

  • type 2 diabetes mellitus

    0.86

  • PPARG-related familial partial lipodystrophy

    0.81

  • diabetes mellitus

    0.74

  • ulcerative colitis

    0.62

  • morbid obesity

    0.61

  • Abnormality of the skeletal system

    0.57

  • coronary artery disorder

    0.55

  • colon carcinoma

    0.52

  • obesity disorder

    0.52

  • metabolic syndrome

    0.51

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Peroxisome proliferator-activated receptor gamma

Ligand-activated transcription factor that forms obligate heterodimers with the retinoic acid receptor and acts as a key regulator of biological processes, such as adipocyte differentiation, lipid metabolism, glucose homeostasis and beta-oxidation of fatty acids (PubMed:16150867, PubMed:20829347, PubMed:23525231, PubMed:8702406, PubMed:8706692, PubMed:9065481). Activated by lipid ligands: binds peroxisome proliferators, such as hypolipidemic drugs, and fatty acids, such as prostaglandin J2 metabolites (PubMed:16150867, PubMed:20829347, PubMed:23525231, PubMed:8702406, PubMed:8706692, PubMed:9065481). Ligand-binding results in a conformational change in the receptor, promoting dissociation of repressors and recruitment of coactivators, and subsequent activation of target gene expression (PubMed:16150867, PubMed:20829347, PubMed:23525231, PubMed:8702406, PubMed:8706692, PubMed:9065481). Specifically binds to DNA specific PPAR response elements (PPRE) and modulates the transcription of its target genes, such as acyl-CoA oxidase (By similarity). Acts as a critical regulator of gut homeostasis by suppressing NF-kappa-B-mediated pro-inflammatory responses (PubMed:20829347). Plays a role in the regulation of cardiovascular circadian rhythms by regulating the transcription of BMAL1 in the blood vessels (By similarity)

Diseases associated with PPARG

Curated MONDO disease pages that list PPARG among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.