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	PPARGC1B
Symbol Alias	PERC, PGC1B
Approved Name	peroxisome proliferator-activated receptor gamma, coactivator 1 beta
Previous Name	peroxisome proliferative activated receptor, gamma, coactivator 1, beta
Location	5q33.1
Position	chr5:149730298-149855022, 1
External Links	HGNC: 30022 Entrez Gene: 133522 Ensembl: ENSG00000155846 UCSC: uc003lrc.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kripke, D. F.,2009	SNP: rs7732671	Significant association was observed in the BP group.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 34)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[11854298]	283

GO terms by database search (count: 33)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003723	RNA binding	molecular function	NAS[11854298]	14
GO:0006366	transcription from RNA polymerase II promoter	biological process	IDA[11854298]	31
GO:0006996	organelle organization	biological process	TAS	23
GO:0001503	ossification	biological process	IEA	5
GO:0007005	mitochondrion organization	biological process	TAS	8
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	biological process	IBA	11
GO:0016592	mediator complex	cellular component	IDA[11854298]	5
GO:0006355	regulation of transcription, DNA-templated	biological process	IDA[23836911]	62
GO:0045672	positive regulation of osteoclast differentiation	biological process	IEA	5
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[11854298]	91
GO:0051384	response to glucocorticoid	biological process	IEA	11
GO:0045780	positive regulation of bone resorption	biological process	IEA	2
GO:0001104	RNA polymerase II transcription cofactor activity	molecular function	IDA[11854298]	4
GO:2000273	positive regulation of receptor activity	biological process	IDA[11854298]	2
GO:0034614	cellular response to reactive oxygen species	biological process	IEA	1
GO:0010694	positive regulation of alkaline phosphatase activity	biological process	IEA	1
GO:0045892	negative regulation of transcription, DNA-templated	biological process	IEA	43
GO:0008134	transcription factor binding	molecular function	IBA	28
GO:0007015	actin filament organization	biological process	IEA	7
GO:0051591	response to cAMP	biological process	IEA	4
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0030520	intracellular estrogen receptor signaling pathway	biological process	IDA[11854298]	2
GO:0005739	mitochondrion	cellular component	IEA	75
GO:0030331	estrogen receptor binding	molecular function	IDA[11854298]	3
GO:0030374	ligand-dependent nuclear receptor transcription coactivator activity	molecular function	IDA[11854298]	3
GO:0006390	transcription from mitochondrial promoter	biological process	IEA	2
GO:0060346	bone trabecula formation	biological process	IEA	1
GO:0030546	receptor activator activity	molecular function	IDA[11854298]	2
GO:0000166	nucleotide binding	molecular function	IEA	17
GO:0042327	positive regulation of phosphorylation	biological process	IEA	3
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0044255	cellular lipid metabolic process	biological process	TAS	13
GO:0050682	AF-2 domain binding	molecular function	IPI[11854298]	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PPARGC1B	ESRRG	YES	in vitro;in vivo	12470660
PPARGC1B	HCFC1	NO	in vitro;in vivo	11733490
PPARGC1B	HNF4A	YES	in vitro;in vivo	11733490
PPARGC1B	AKT1	YES	in vitro	17554339

Related other genetic factors

Gene related SNPs (count: 6)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7732671	chr5:149832680 - 149832680(1)	missense_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 5)

rs_ID	Location	Functional Annotation
rs17572019	chr5:149832908 - 149832908(1)	missense_variant; upstream_gene_variant
rs13178617	chr5:149831829 - 149831829(1)	intron_variant; upstream_gene_variant
rs10491361	chr5:149829205 - 149829205(1)	intron_variant; upstream_gene_variant
rs17462080	chr5:149820839 - 149820839(1)	downstream_gene_variant; intron_variant
rs7729592	chr5:149820093 - 149820093(1)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5q31-q33	chr5:131200000-160500000	1 (1/0/0)
5q32	chr5:145100000-150400000	2 (0/2/0)
5q32-5q33.3	chr5:145100000-160500000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr5:149730298..149855022 View in gBrowse