Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

Gene Information

Gene Symbol

PPARG

Aliases

CIMT1, GLM1, NR1C3, PPARG1, PPARG2, PPARG5, PPARgamma

Entrez Gene ID

5468

Gene Name

Peroxisome proliferator activated receptor gamma

Chromosomal Location

3p25.2

HGNC ID

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_005037.7, NM_015869.5, NM_138711.6, NM_138712.5, NM_001330615.4, NM_001354666.3, NM_001354667.3, NM_001354668.2, NM_001354669.2, NM_001354670.2, NM_001374261.3, NM_001374262.3, NM_001374263.2, NM_001374264.2, NM_001374265.1, NM_001374266.1

e!Ensembl

Gene	ENSG00000132170
Transcript	ENST00000397010, ENST00000397029, ENST00000309576, ENST00000397015, ENST00000643888, ENST00000643197, ENST00000644622, ENST00000455517, ENST00000652522, ENST00000652431, ENST00000652098, ENST00000651735, ENST00000397026, ENST00000497594, ENST00000438682, ENST00000397000, ENST00000477039, ENST00000287820, ENST00000397023, ENST00000396999, ENST00000650761, ENST00000651826, ENST00000397012, ENST00000650650
Protein	ENSP00000380205, ENSP00000380224, ENSP00000312472, ENSP00000380210, ENSP00000494934, ENSP00000495840, ENSP00000494873, ENSP00000411931, ENSP00000498500, ENSP00000498717, ENSP00000498300, ENSP00000498313, ENSP00000380221, , ENSP00000392285, ENSP00000380196, ENSP00000287820, ENSP00000380218, ENSP00000380195, ENSP00000498354, ENSP00000499004, ENSP00000380207, ENSP00000498420

SNPs

SNP	SNP ID	Associated disease	References
P115Q		Precocious Pubarche	11591408
V290M	rs72551362	Precocious Pubarche	11591408
P467L	rs121909244	Precocious Pubarche	11591408
P12A	rs1801282	Precocious Pubarche	11591408

Gene Ontology (GO)

Show/Hide all(81 )

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: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: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:0045893	Biological process	Positive regulation of transcription, DNA-templated	IMP	19043829
GO:0045923	Biological process	Positive regulation of fatty acid metabolic process	IBA	21873635
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:0048384	Biological process	Retinoic acid receptor signaling pathway	IDA	16239304
GO:0048469	Biological process	Cell maturation	IDA	9568716
GO:0048662	Biological process	Negative regulation of smooth muscle cell proliferation	IDA	20622039
GO:0050728	Biological process	Negative regulation of inflammatory response	IBA	21873635
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:0071404	Biological process	Cellular response to low-density lipoprotein particle stimulus	IDA	9568716
GO:1902895	Biological process	Positive regulation of pri-miRNA transcription by RNA polymerase II	IDA	28566713
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	IDA	9568716
GO:0032991	Cellular component	Protein-containing complex	IDA	19043829
GO:0090575	Cellular component	RNA polymerase II transcription factor complex	IDA	9568716
GO:0000976	Molecular function	Transcription regulatory region sequence-specific DNA binding	IDA	18293083
GO:0000978	Molecular function	RNA polymerase II proximal promoter sequence-specific DNA binding	IBA	21873635
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	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: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	IBA	21873635
GO:0004879	Molecular function	Nuclear receptor activity	IDA	10622252, 16239304
GO:0004955	Molecular function	Prostaglandin receptor activity	TAS	9568715
GO:0005515	Molecular function	Protein binding	IPI	12040021, 12522104, 14701856, 15722453, 16239304, 17500595, 19846556, 20195357, 20660480, 22351778, 32296183
GO:0008022	Molecular function	Protein C-terminus binding	IDA	19043829
GO:0008134	Molecular function	Transcription factor binding	IPI	26504087
GO:0008144	Molecular function	Drug binding	IDA	9113987, 10622252, 19043829
GO:0008270	Molecular function	Zinc ion binding	IDA	19043829
GO:0019899	Molecular function	Enzyme binding	IPI	12039952
GO:0033613	Molecular function	Activating transcription factor binding	IDA	10622252
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:0046965	Molecular function	Retinoid X receptor binding	IDA	9568715
GO:0046965	Molecular function	Retinoid X receptor binding	IPI	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, peroxisome proliferator-activated receptor-gamma 5, peroxisome proliferator-activated receptor-gamma splicing

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 (By similarity). .; (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_005028.5, NP_056953.2, NP_619725.3, NP_619726.3, NP_001317544.2, NP_001341595.2, NP_001341596.2, NP_001341597.1, NP_001341598.1, NP_001341599.1, NP_001361190.2, NP_001361191.2, NP_001361192.2, NP_001361193.2, NP_001361194.1, NP_001361195.1

UniProt

P37231

PDB

1FM6, 1FM9, 1I7I, 1K74, 1KNU, 1NYX, 1PRG, 1RDT, 1WM0, 1ZEO, 1ZGY, 2ATH, 2F4B, 2FVJ, 2G0G, 2G0H, 2GTK, 2HFP, 2HWQ, 2HWR, 2I4J, 2I4P, 2I4Z, 2OM9, 2P4Y, 2POB, 2PRG, 2Q59, 2Q5P, 2Q5S, 2Q61, 2Q6R, 2Q6S, 2Q8S, 2QMV, 2VSR, 2VST, 2VV0, 2VV1, 2VV2, 2VV3, 2VV4, 2XKW, 2YFE, 2ZK0, 2ZK1, 2ZK2, 2ZK3, 2ZK4, 2ZK5, 2ZK6