PPARG: Polycystic Ovarian Syndrome Database

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PPARG

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

PPARG

Aliases

CIMT1, GLM1, NR1C3, PPARG1, PPARG2, PPARgamma

Entrez Gene ID

5468

Gene Name

Peroxisome proliferator activated receptor gamma

Chromosomal Location

3p25.2

HGNC ID

HGNC:9236

Summary

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]

RefSeq DNA

NG_011749.1

RefSeq mRNA

NM_138712.3, NM_005037.6, NM_015869.5, NM_138711.4, NM_138712.4, NM_001330615.2, NM_001354666.2, NM_001354667.2, NM_001354668.2, NM_001354669.2, NM_001354670.2, NM_001374261.1, NM_001374262.1, NM_001374263.1, NM_001374264.1, NM_001374265.1, NM_001374266.1

e!Ensembl

Gene	ENSG00000132170
Transcript	ENST00000397010, ENST00000397029, ENST00000309576, ENST00000397015, ENST00000643888, ENST00000643197, ENST00000644622, ENST00000455517, ENST00000652522, ENST00000652431, ENST00000652098, ENST00000651735, ENST00000397026, ENST00000438682, ENST00000397000, ENST00000287820, ENST00000397023, ENST00000396999, ENST00000650761, ENST00000651826, ENST00000397012, ENST00000650840, ENST00000650650
Protein	ENSP00000380205, ENSP00000380224, ENSP00000312472, ENSP00000380210, ENSP00000494934, ENSP00000495840, ENSP00000494873, ENSP00000411931, ENSP00000498500, ENSP00000498717, ENSP00000498300, ENSP00000498313, ENSP00000380221, ENSP00000392285, ENSP00000380196, ENSP00000287820, ENSP00000380218, ENSP00000380195, ENSP00000498354, ENSP00000499004, ENSP00000380207, ENSP00000499041, ENSP00000498420

Gene Ontology (GO)

Show/Hide all(96 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IBA	21873635
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IDA	12700342
GO:0006629	Biological process	Lipid metabolic process	TAS	9568716
GO:0006631	Biological process	Fatty acid metabolic process	IBA	21873635
GO:0006919	Biological process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	18293083
GO:0007165	Biological process	Signal transduction	IDA	9568716
GO:0007275	Biological process	Multicellular organism development	IBA	21873635
GO:0007584	Biological process	Response to nutrient	TAS	10973253
GO:0008217	Biological process	Regulation of blood pressure	IMP	10622252
GO:0009755	Biological process	Hormone-mediated signaling pathway	IBA	21873635
GO:0010742	Biological process	Macrophage derived foam cell differentiation	IDA	26504087
GO:0010745	Biological process	Negative regulation of macrophage derived foam cell differentiation	IC	12700342
GO:0010745	Biological process	Negative regulation of macrophage derived foam cell differentiation	IDA	19114110
GO:0010871	Biological process	Negative regulation of receptor biosynthetic process	IDA	12700342
GO:0010887	Biological process	Negative regulation of cholesterol storage	IBA	21873635
GO:0010887	Biological process	Negative regulation of cholesterol storage	IDA	19114110
GO:0010891	Biological process	Negative regulation of sequestering of triglyceride	IDA	12700342
GO:0016525	Biological process	Negative regulation of angiogenesis	IDA	28566713
GO:0019216	Biological process	Regulation of lipid metabolic process	IBA	21873635
GO:0030154	Biological process	Cell differentiation	IBA	21873635
GO:0030224	Biological process	Monocyte differentiation	IDA	9568716
GO:0032526	Biological process	Response to retinoic acid	IBA	21873635
GO:0032526	Biological process	Response to retinoic acid	IDA	16239304
GO:0032869	Biological process	Cellular response to insulin stimulus	IBA	21873635
GO:0032869	Biological process	Cellular response to insulin stimulus	IMP	10622252
GO:0033993	Biological process	Response to lipid	IBA	21873635
GO:0033993	Biological process	Response to lipid	ISS	9568715
GO:0035357	Biological process	Peroxisome proliferator activated receptor signaling pathway	IMP	20622039
GO:0042593	Biological process	Glucose homeostasis	IMP	10622252
GO:0042953	Biological process	Lipoprotein transport	IDA	9568716
GO:0043388	Biological process	Positive regulation of DNA binding	IMP	19043829
GO:0043537	Biological process	Negative regulation of blood vessel endothelial cell migration	IDA	28566713
GO:0045087	Biological process	Innate immune response	TAS	17145956
GO:0045713	Biological process	Low-density lipoprotein particle receptor biosynthetic process	IDA	9568716
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	IBA	21873635
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IMP	19043829
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	9568715, 12700342, 16239304, 17611579
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IMP	20622039
GO:0048469	Biological process	Cell maturation	IDA	9568716
GO:0048662	Biological process	Negative regulation of smooth muscle cell proliferation	IDA	20622039
GO:0050872	Biological process	White fat cell differentiation	TAS	12588810
GO:0051091	Biological process	Positive regulation of DNA-binding transcription factor activity	IDA	18293083
GO:0055088	Biological process	Lipid homeostasis	TAS	9113987
GO:0060336	Biological process	Negative regulation of interferon-gamma-mediated signaling pathway	IMP	21268089
GO:0060694	Biological process	Regulation of cholesterol transporter activity	IC	17611579
GO:0060965	Biological process	Negative regulation of gene silencing by miRNA	IMP	28522568
GO:0061614	Biological process	Pri-miRNA transcription by RNA polymerase II	IDA	28566713
GO:0071404	Biological process	Cellular response to low-density lipoprotein particle stimulus	IDA	9568716
GO:1904706	Biological process	Negative regulation of vascular smooth muscle cell proliferation	IDA	28522568
GO:1904706	Biological process	Negative regulation of vascular smooth muscle cell proliferation	IMP	24960162
GO:1905461	Biological process	Positive regulation of vascular associated smooth muscle cell apoptotic process	IMP	28522568
GO:1905563	Biological process	Negative regulation of vascular endothelial cell proliferation	IMP	24244514, 24960162
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	9568716
GO:0032991	Cellular component	Protein-containing complex	IDA	19043829
GO:0090575	Cellular component	RNA polymerase II transcription factor complex	IBA	21873635
GO:0090575	Cellular component	RNA polymerase II transcription factor complex	IDA	9568716
GO:0000976	Molecular function	Transcription regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000977	Molecular function	RNA polymerase II regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	19274049
GO:0001103	Molecular function	RNA polymerase II repressing transcription factor binding	IBA	21873635
GO:0001227	Molecular function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	21873635
GO:0003677	Molecular function	DNA binding	IDA	16239304
GO:0003690	Molecular function	Double-stranded DNA binding	IMP	19043829
GO:0003700	Molecular function	DNA-binding transcription factor activity	IDA	9568715
GO:0004879	Molecular function	Nuclear receptor activity	IDA	10622252
GO:0004955	Molecular function	Prostaglandin receptor activity	TAS	9568715
GO:0005504	Molecular function	Fatty acid binding	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	10428834, 12040021, 12522104, 14701856, 16239304, 17500595, 19846556, 20195357, 20660480, 22351778
GO:0008022	Molecular function	Protein C-terminus binding	IDA	19043829
GO:0008134	Molecular function	Transcription factor binding	IBA	21873635
GO:0008134	Molecular function	Transcription factor binding	IPI	26504087
GO:0008144	Molecular function	Drug binding	IBA	21873635
GO:0008144	Molecular function	Drug binding	IDA	9113987, 10622252, 19043829
GO:0008270	Molecular function	Zinc ion binding	IDA	19043829
GO:0008289	Molecular function	Lipid binding	IBA	21873635
GO:0019899	Molecular function	Enzyme binding	IPI	12039952
GO:0030374	Molecular function	Nuclear receptor transcription coactivator activity	IBA	21873635
GO:0030374	Molecular function	Nuclear receptor transcription coactivator activity	IDA	16239304
GO:0033613	Molecular function	Activating transcription factor binding	IDA	10622252
GO:0038023	Molecular function	Signaling receptor activity	IBA	21873635
GO:0042277	Molecular function	Peptide binding	IDA	19043829
GO:0042802	Molecular function	Identical protein binding	IPI	25609649
GO:0043565	Molecular function	Sequence-specific DNA binding	IDA	9568716
GO:0043621	Molecular function	Protein self-association	IDA	19043829
GO:0044212	Molecular function	Transcription regulatory region DNA binding	IDA	18293083
GO:0046965	Molecular function	Retinoid X receptor binding	IDA	9568715
GO:0046965	Molecular function	Retinoid X receptor binding	IPI	19043829
GO:0046982	Molecular function	Protein heterodimerization activity	IDA	19043829
GO:0050544	Molecular function	Arachidonic acid binding	ISS	9568715
GO:0050692	Molecular function	DBD domain binding	IDA	19043829
GO:0050693	Molecular function	LBD domain binding	IDA	19043829
GO:0051393	Molecular function	Alpha-actinin binding	IPI	22351778

Protein Information

Protein Name

Peroxisome proliferator-activated receptor gamma, PPAR-gamma, nuclear receptor subfamily 1 group C member 3, peroxisome proliferator-activated nuclear receptor gamma variant 1

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. (Microbial infection) Upon treatment with M.tuberculosis or its lipoprotein LpqH, phosphorylation of MAPK p38 and IL-6 production are modulated, probably via this protein

Refseq Proteins

NP_619726.2, NP_005028.4, NP_056953.2, NP_619725.2, NP_001317544.1, NP_001341595.1, NP_001341596.1, NP_001341597.1, NP_001341598.1, NP_001341599.1, NP_001361190.1, NP_001361191.1, NP_001361192.1, NP_001361193.1, NP_001361194.1, NP_001361195.1

UniProt

P37231

PDB

1RDT, 1FM6, 1FM9, 1K74, 2FVJ, 2GTK, 2HFP, 2PRG, 3CWD, 3ET3, 3FEJ, 3FUR, 3G9E, 3H0A, 3LMP, 3QT0, 3S9S, 3T03, 3V9Y, 3VN2, 4F9M, 4FGY, 4HEE, 4Y29, 5DSH, 5DV3, 5DV6, 5DV8, 5DVC, 5DWL, 5GTN, 5GTO, 5GTP, 5JI0, 5YCN, 5YCP, 3DZU, 3DZY, 3E00, 1I7I, 1KNU, 1NYX, 1PRG, 1WM0, 1ZEO, 1ZGY, 2ATH, 2F4B, 2G0G, 2G0H, 2HWQ,

Pathways
	KEGG	Reactome
	PPAR signaling pathway AMPK signaling pathway Longevity regulating pathway Osteoclast differentiation Thermogenesis Huntington disease Pathways in cancer Transcriptional misregulation in cancer Thyroid cancer	PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation Nuclear Receptor transcription pathway Regulation of PTEN gene transcription

Interactions

STRING	MINT	IntAct
ENSP00000420194		P41180

View interactions

Associated Diseases

Show/Hide all(12 )

Disease group	Disease Name	References
Blood Disorders
Blood Disorders	Leukostasis	12468449
Cardiovascular Diseases
	Hypertensive disease	15199296, 19666838, 27292124
	Heart Failure	26670611
	Myocardial Failure	26670611
	Atherosclerosis	18269830
Digestive System Diseases
	Liver Diseases	22968431
	Crohn Disease	21829567
	Enteritis	21829567
	Colitis	21829567
Endocrine System Diseases
	Diabetes Mellitus	24509480, 22885922, 29358691, 28869590, 16123366, 17317762, 16249460, 21484566, 28182703, 15592662, 16168052
	Cushing Syndrome	16809932
	Glomerulosclerosis	28182703
	PCOS	30286768, 12615821
Immune System Diseases
Immune System Diseases	Antiphospholipid Syndrome	28182703
Musculoskeletal Diseases
	Arthritis	17568789
	Osteoarthrosis Deformans	17568789
Neoplasms
	Stomach Cancer	19140230, 15492468
	Pancreatic Neoplasm	11741176, 11034103
	Thyroid Cancer	15785241
	Gastric Cancer	15492468, 19140230
	Liver Cancer	16374840, 20143881
	Colorectal Cancer	16489531
	Cribriform Carcinoma	11034103
	Adenocarcinoma	11034103
	Colonic Neoplasms	20540935, 10394368
	Barrett Esophagus	15387324
	Carcinoma	11034103
	Barrett Epithelium	15387324
	Lymphoma	17255338
Nervous System Diseases
	Chronobiology Disorders	22899986
	Circadian Rhythm Disorders	22899986
Nutritional and Metabolic Diseases
	Dyslipidemias	16168052
	Obesity	10690291, 9753710, 28242765, 11089532
	Lipoidosis	21123845
	Metabolic Diseases	19589179
	Gluocose Intolerance	18448614
Psychiatric/Brain disorders
	Alzheimer Disease	16407166, 15993441
	Mood Disorders	24651066
	Senile Dementia	16407166, 15993441
	Schizophrenia	19560328
	Obstructive Sleep Apnea	21669017
Renal Disorder
	Kidney Insufficiency	24011919, 20623750, 24433871, 28182703
	Polycystic Kidney Diseases	20210794
	Glomerulonephritis	11318962
	Kidney Failure	20623750, 24011919, 24433871, 28182703
	Nephritis	11318962
	Diabetic Nephropathy	28182703
Skin and Connective Tissue Diseases
	Pustulosis	10815854
	Lipodystrophy	17356052, 12663460, 25741868, 11788685, 12453919, 10622252, 17299075, 19793595
	Psoriasis	10815854

References

Show/Hide all(22)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
20130411	PGC-1alpha	PCOS	PPAR-gammaPro12Ala and the PGC-1alpha Gly482Ser polymorphism		Related	Korean (184 PCOS and 256 controls)	PCOS patients, the PPAR-gammaPro12Ala and the PGC-1alpha Gly482Ser polymorphism may modulate the concentrations of serum HDL levels
20406953	FOXO1 and SLC2A4	Hyperinsulinemic			Related	7 PCOS and 7 Control	Derepression of PPARG transcription by the high levels of p-FOXO1Ser319 could partially account for the lower levels of SLC2A4 found in PCOSE h-Ins
21827375			Pro12Ala polymorphism		Related	54 PCOS and 51 control	In the PCOS women, a single Ala allele may have a protective role as far as hyperleptinemia is concerned
24040456			P12A	NIH criteria	Related	120 Chinese women with PCOS and 118 normal subjects	In PCOS patients, the PPAR-gamma Pro12Ala polymorphism may modulate the concentrations of serum fasting TG levels and fat-deposition in abdomen, respectively
22564702			P12A		Direct	2176 cases, 2373 controls	The meta-analysis study supported thatPPAR- 2 Pro12Ala polymorphism was capable of reducing polycystic ovary syndrome risk in Europeans, but not in Asians
23748472	Insulin		Pro12Ala polymorphism	Rotterdam criteria	Related	450 PCOS and 300 Controls	Pro12Ala polymorphism of PPAR showed significant association with decreased PCOS susceptibility
21853931			Pro12Ala polymorphism		Related	European population (54 PCOSand 51 control)	Pro12Ala polymorphism observed in women from the Lower Silesian population was significantly higher than in the majority of European
22527903			Pro12Ala polymorphism		Direct	2,149 patients, 2,124 controls	Ala variant would decrease the risk of PCOS and result in lower BMI and fast insulin levels in a European population, but had no impact on HOMA-IR in PCOS patients
20840271			Pro12Ala polymorphism in exon 2 of the PPAR-		Related	183 PCOS and 148 controls	PPAR- gene polymorphisms do not appear to affect the risk for PCOS, except for the reduced testosterone levels
20045799					Direct	180 PCOS and 140 controls	Not associated with PCOS
19549442			Pro12Ala and His447His polymorphisms of PPAR-gamma	NIH-NNICHD criteria	Related	Korean population	Pro12Ala and His447His polymorphisms of PPAR-gamma are associated with PCOS in a Korean population.
18680073					Related	21 PCOS and 120 Control	alterations in inflammatory serum markers appear to be a feature of PCOS per se, and are independent of PPAR gamma variants
17141766				NICHD criteria	Direct	285 PCOS and 187 controls	PPARG does not appear to be an important modifier gene in PCOS
16785159			Pro12Ala polymorphism of the PPAR-gamma		Related	100 PCOS and 100 control	Pro12Ala polymorphism of the PPAR-gamma gene may be a modifier of insulin resistance in women with PCOS
16600233	PGC-1alpha			Rotterdam criteria	Related	Chinese Han (201 PCOS and 147 control)	significant differences with peroxisome proliferator-activated receptor-gamma2 Pro12Ala and peroxisome proliferator-activated receptor-gamma-1alpha Gly482Ser polymorphism distributions between Chinese women with PCOS and controls, or with body mass index and reproductive hormones among various genotypic groups of PCOS
16316841			Pro12Ala PPAR-gamma gene polymorphism		Related	55 PCOS and 80 control	Pro12Ala PPAR-gamma gene polymorphism may be protective against IR and might prevent the development of diabetes mellitus with PCOS
15853827			Pro12Ala polymorphism of the PPARgamma		Related	102 PCOSand 104 control	Pro12Ala polymorphism of the PPARgamma gene is associated with increased insulin sensitivity and lower hirsutism scores inPCOS women
15472214	Adiponectin			NICHD criteria	Direct	120 PCOS and 120 control	adiponectin concentrations are similar in PCOS and controls,no effect of the PPAR-gamma gene Pro12Ala polymorphism on serum adiponectin levels
14671186				NICHD criteria	Related	100 PCOS and 100 controls	it plays a role in the complex pathogenetic mechanism of obesity in PCOS
12615821			Pro12 Ala polymorphism of PPARgamma gene		Related	135 PCOS and 115control	PPARgamma gene polymorphism in the pathogenesis of PCOS, the presence of the Ala isoform being protective against the development of PCOS
11836319	IR		Pro(12)Ala in PPARG	NIH criteria	Related	Caucasian (218 PCOS )	Pro(12)Ala in PPARG is a modifier of insulin resistance in Caucasian women with PCOS
22575725	IRS-1		IRS-1 polymorphisms (Gly972Arg and G2323A) and two PPAR- polymorphisms (Pro12Ala and His447His)		Related	South Indian population (250 PCOS and 299 controls)	while IRS-1, contrary to the earlier findings in other ethnic groups, seems to have a probable protective role against development of specific PCOS sub-phenotypes, the evidence for a probable protective role of PPAR- is reaffirmed in our study