Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	PPARD
Symbol Alias	NUC1, NUCII, FAAR, NR1C2
Approved Name	peroxisome proliferator-activated receptor delta
Previous Name	peroxisome proliferative activated receptor, delta
Location	6p21.2
Position	chr6:35342558-35428191, 1
External Links	HGNC: 9235 Entrez Gene: 5467 Ensembl: ENSG00000112033 UCSC: uc003okm.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Zandi, P. P, 2008 (a)	SNP: rs1053046, rs2016520, rs2076166, rs2076167, rs2076168, rs2076169, rs2267665, rs2267666, rs3734254, rs6457816, rs6906237, rs7744392, rs9462082, rs9470001, rs9658100	We found evidence for association of bipolar disorder with PPARD, a gene in the Wnt signaling pathway.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 64)

GO terms by PBA (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003707	steroid hormone receptor activity	molecular function	IEA	10
GO:0043565	sequence-specific DNA binding	molecular function	IEA	29
GO:0004879	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity	molecular function	IDA[12955147]	7
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IDA[12955147]; NAS[11551955]	66
GO:0005634	nucleus	cellular component	NAS[11551955]	283
GO:0030522	intracellular receptor signaling pathway	biological process	IDA[12955147]; IEA	8
GO:0003677	DNA binding	molecular function	ISS	83
GO:0030154	cell differentiation	biological process	IEA	31

GO terms by database search (count: 56)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0051546	keratinocyte migration	biological process	IEA	1
GO:0030308	negative regulation of cell growth	biological process	IEA	11
GO:0008283	cell proliferation	biological process	ISS; TAS[11847022]	37
GO:0006776	vitamin A metabolic process	biological process	IEA	1
GO:0006915	apoptotic process	biological process	IMP[12909723]	39
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	biological process	IEA	9
GO:0043066	negative regulation of apoptotic process	biological process	IEA	46
GO:0007507	heart development	biological process	IEA	20
GO:0032024	positive regulation of insulin secretion	biological process	IEA	7
GO:0008144	drug binding	molecular function	IDA[10198642]	21
GO:0006629	lipid metabolic process	biological process	ISS	10
GO:0097190	apoptotic signaling pathway	biological process	IMP[11551955]	13
GO:0050728	negative regulation of inflammatory response	biological process	IEA	6
GO:0015758	glucose transport	biological process	NAS[15793256]	7
GO:0042060	wound healing	biological process	IEA	9
GO:0008366	axon ensheathment	biological process	ISS	2
GO:0009749	response to glucose	biological process	IEA	8
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[12955147]	58
GO:0006367	transcription initiation from RNA polymerase II promoter	biological process	TAS	20
GO:0014912	negative regulation of smooth muscle cell migration	biological process	IEA	2
GO:0009299	mRNA transcription	biological process	IEA	1
GO:0006091	generation of precursor metabolites and energy	biological process	TAS[1333051]	5
GO:0043401	steroid hormone mediated signaling pathway	biological process	IEA	10
GO:0031589	cell-substrate adhesion	biological process	IEA	1
GO:0008270	zinc ion binding	molecular function	IEA	77
GO:0005515	protein binding	molecular function	IPI[23455924]	563
GO:0008289	lipid binding	molecular function	IDA[12955147]	8
GO:0014823	response to activity	biological process	IEA	11
GO:0060612	adipose tissue development	biological process	IEA	5
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	ISS	62
GO:0051059	NF-kappaB binding	molecular function	IEA	3
GO:0009062	fatty acid catabolic process	biological process	TAS[15192438]	3
GO:0015908	fatty acid transport	biological process	ISS	2
GO:0048662	negative regulation of smooth muscle cell proliferation	biological process	IEA	7
GO:0006006	glucose metabolic process	biological process	NAS[15793256]	10
GO:0010467	gene expression	biological process	TAS	41
GO:0045909	positive regulation of vasodilation	biological process	IEA	14
GO:0045600	positive regulation of fat cell differentiation	biological process	NAS[10991946]	9
GO:0006357	regulation of transcription from RNA polymerase II promoter	biological process	TAS[1333051]	21
GO:0046697	decidualization	biological process	TAS[11551955]	1
GO:0003713	transcription coactivator activity	molecular function	IEA	22
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0006029	proteoglycan metabolic process	biological process	IEA	1
GO:0050680	negative regulation of epithelial cell proliferation	biological process	IEA	4
GO:0008203	cholesterol metabolic process	biological process	TAS[15192438]	5
GO:0045892	negative regulation of transcription, DNA-templated	biological process	ISS	43
GO:0043616	keratinocyte proliferation	biological process	IEA	4
GO:0033189	response to vitamin A	biological process	IEA	2
GO:0007566	embryo implantation	biological process	TAS[11551955]	8
GO:0070539	linoleic acid binding	molecular function	IDA[10198642]	1
GO:0032966	negative regulation of collagen biosynthetic process	biological process	IEA	2
GO:0008654	phospholipid biosynthetic process	biological process	IEA	2
GO:0071456	cellular response to hypoxia	biological process	IEA	13
GO:0006635	fatty acid beta-oxidation	biological process	ISS; TAS[15192438]	3
GO:0045684	positive regulation of epidermis development	biological process	IEA	1
GO:0008284	positive regulation of cell proliferation	biological process	IEA	44

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa05221	Acute myeloid leukemia	7
hsa03320	PPAR signaling pathway	4

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04310	Wnt signaling pathway	20

Gene related BioCarta pathways (count: 3)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 3)

ID	Name	No. of Genes in BDgene
nuclearRsPathway	Nuclear Receptors in Lipid Metabolism and Toxicity	2
wntPathway	WNT Signaling Pathway	5
pparPathway	Basic mechanism of action of PPARa, PPARb(d) and PPARg and effects on gene expression	1

Gene related interactors from protein-protein interactions data in HPRD (count: 22)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PPARD	BCL6	NO	in vitro;in vivo	12970571
PPARD	HDAC1	NO	in vivo	11867749
PPARD	PROX1	NO	yeast 2-hybrid	15604093
PPARD	RXRB	NO	yeast 2-hybrid	15604093
PPARD	EP300	NO	in vitro	10567538
PPARD	GADD45B	NO	in vitro	10872826
PPARD	GADD45G	NO	in vitro	10872826
PPARD	NCOR1	NO	in vitro	15001550
PPARD	SRC	NO	in vitro	15001550
PPARD	HDAC3	NO	in vivo	11867749
PPARD	NR0B2	NO	yeast 2-hybrid	15604093
PPARD	PEBP1	NO	in vitro	15001550
PPARD	DUT	NO	in vitro;in vivo	8910358
PPARD	SMAD9	NO	yeast 2-hybrid	15231748
PPARD	HDAC2	NO	in vivo	11867749
PPARD	SPEN	NO	in vivo	11867749
PPARD	RXRA	NO	yeast 2-hybrid	15604093
PPARD	RANBP9	NO	yeast 2-hybrid	15604093
PPARD	NRIP1	YES	in vitro	15001550
PPARD	RXRG	NO	yeast 2-hybrid	15604093
PPARD	PRDX6	NO	yeast 2-hybrid	15604093
PPARD	HDAC7	NO	in vitro	12970571

Related other genetic factors

Gene related SNPs (count: 37)

Literature-origin SNPs (count: 15)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7744392	chr6:35354986 - 35354986(1)	intron_variant	1(1/0/0)
rs1053046	chr6:35427801 - 35427801(1)	3_prime_UTR_variant; downstream_gene_variant	1(0/1/0)
rs9470001	chr6:35365964 - 35365964(1)	intron_variant	1(0/1/0)
rs6457816	chr6:35395071 - 35395071(1)	intron_variant	1(0/1/0)
rs2267665	chr6:35401714 - 35401714(1)	intron_variant	1(1/0/0)
rs2076166	chr6:35425627 - 35425627(1)	downstream_gene_variant; intron_variant	1(1/0/0)
rs2076169	chr6:35420702 - 35420702(1)	intron_variant	1(1/0/0)
rs9658100	chr6:35388863 - 35388863(1)	intron_variant	1(0/1/0)
rs2267666	chr6:35402951 - 35402951(1)	intron_variant	1(1/0/0)
rs2076168	chr6:35422222 - 35422222(1)	intron_variant	1(1/0/0)
rs3734254	chr6:35427233 - 35427233(1)	3_prime_UTR_variant; downstream_gene_variant	1(1/0/0)
rs6906237	chr6:35407749 - 35407749(1)	intron_variant	1(1/0/0)
rs9462082	chr6:35418264 - 35418264(1)	intron_variant	1(1/0/0)
rs2016520	chr6:35411001 - 35411001(1)	5_prime_UTR_variant; intron_variant	1(1/0/0)
rs2076167	chr6:35424010 - 35424010(1)	synonymous_variant	1(1/0/0)

LD-proxies (count: 22)

rs_ID	Location	Functional Annotation
rs9658080	chr6:35369420 - 35369420(1)	intron_variant
rs7758272	chr6:35355198 - 35355198(1)	intron_variant
rs2038067	chr6:35406689 - 35406689(1)	intron_variant
rs9470015	chr6:35401307 - 35401307(1)	intron_variant
rs7749160	chr6:35429350 - 35429350(1)	downstream_gene_variant
rs760783	chr6:35428227 - 35428227(1)	downstream_gene_variant
rs2267669	chr6:35410347 - 35410347(1)	intron_variant
rs2267668	chr6:35410145 - 35410145(1)	intron_variant
rs6901410	chr6:35362253 - 35362253(1)	intron_variant
rs7739752	chr6:35371258 - 35371258(1)	intron_variant
rs9296148	chr6:35369690 - 35369690(1)	intron_variant
rs9658083	chr6:35369514 - 35369514(1)	intron_variant
rs1040436	chr6:35400132 - 35400132(1)	intron_variant
rs6902123	chr6:35362644 - 35362644(1)	intron_variant
rs7751481	chr6:35403976 - 35403976(1)	intron_variant
rs1883322	chr6:35402029 - 35402029(1)	intron_variant
rs6922548	chr6:35385746 - 35385746(1)	intron_variant
rs1053049	chr6:35427841 - 35427841(1)	3_prime_UTR_variant; downstream_gene_variant
rs9470007	chr6:35381962 - 35381962(1)	intron_variant
rs2267667	chr6:35404747 - 35404747(1)	intron_variant
rs6919334	chr6:35374098 - 35374098(1)	intron_variant
rs2038068	chr6:35406684 - 35406684(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6p21	chr6:30500000-46200000	1 (0/1/0)
6p23-p21.1	chr6:13400000-46200000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
18797401	744	Positive

Gene relationship with MDD

View in gBrowse

Region: chr6:35342558..35428191 View in gBrowse