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
wntPathway	WNT Signaling Pathway	5
pparPathway	Basic mechanism of action of PPARa, PPARb(d) and PPARg and effects on gene expression	1
nuclearRsPathway	Nuclear Receptors in Lipid Metabolism and Toxicity	2

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

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

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