The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabeti... See more...

Aliases for PPARGC1B Gene

Aliases for PPARGC1B Gene

  • PPARG Coactivator 1 Beta 2 3 5
  • PGC1B 2 3 4
  • PERC 2 3 4
  • Peroxisome Proliferator-Activated Receptor Gamma, Coactivator 1 Beta 2 3
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Beta 3 4
  • PGC-1-Related Estrogen Receptor Alpha Coactivator 3 4
  • PPAR-Gamma Coactivator 1-Beta 3 4
  • PPARgamma Coactivator 1 Beta 2 3
  • PPARGC-1-Beta 3 4
  • Peroxisome Proliferative Activated Receptor, Gamma, Coactivator 1, Beta 2
  • PGC-1(Beta) 3
  • PGC-1-Beta 4
  • PPARGC1B 5
  • PPARGC1 4
  • ERRL1 3
  • PGC1 4

External Ids for PPARGC1B Gene

Previous GeneCards Identifiers for PPARGC1B Gene

  • GC05P149138
  • GC05P149090
  • GC05P149109
  • GC05P144256

Summaries for PPARGC1B Gene

Entrez Gene Summary for PPARGC1B Gene

  • The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this gene increase the risk of the development of obesity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

GeneCards Summary for PPARGC1B Gene

PPARGC1B (PPARG Coactivator 1 Beta) is a Protein Coding gene. Diseases associated with PPARGC1B include Type 2 Diabetes Mellitus and Diabetes Mellitus. Among its related pathways are Insulin resistance and AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is PPARGC1A.

UniProtKB/Swiss-Prot Summary for PPARGC1B Gene

  • Plays a role of stimulator of transcription factors and nuclear receptors activities. Activates transcriptional activity of estrogen receptor alpha, nuclear respiratory factor 1 (NRF1) and glucocorticoid receptor in the presence of glucocorticoids. May play a role in constitutive non-adrenergic-mediated mitochondrial biogenesis as suggested by increased basal oxygen consumption and mitochondrial number when overexpressed. May be involved in fat oxidation and non-oxidative glucose metabolism and in the regulation of energy expenditure. Induces the expression of PERM1 in the skeletal muscle in an ESRRA-dependent manner.

Gene Wiki entry for PPARGC1B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPARGC1B Gene

Genomics for PPARGC1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPARGC1B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPARGC1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPARGC1B

Top Transcription factor binding sites by QIAGEN in the PPARGC1B gene promoter:
  • AP-4
  • HNF-4alpha1
  • HNF-4alpha2
  • Nkx2-5
  • p300
  • Pax-3
  • STAT1

Genomic Locations for PPARGC1B Gene

Latest Assembly
chr5:149,730,298-149,857,861
(GRCh38/hg38)
Size:
127,564 bases
Orientation:
Plus strand

Previous Assembly
chr5:149,109,873-149,234,585
(GRCh37/hg19 by Entrez Gene)
Size:
124,713 bases
Orientation:
Plus strand

chr5:149,109,861-149,234,585
(GRCh37/hg19 by Ensembl)
Size:
124,725 bases
Orientation:
Plus strand

Genomic View for PPARGC1B Gene

Genes around PPARGC1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPARGC1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPARGC1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPARGC1B Gene

Proteins for PPARGC1B Gene

  • Protein details for PPARGC1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YN6-PRGC2_HUMAN
    Recommended name:
    Peroxisome proliferator-activated receptor gamma coactivator 1-beta
    Protein Accession:
    Q86YN6
    Secondary Accessions:
    • A2RUM8
    • A2RUN0
    • B3KVW0
    • Q86YN3
    • Q86YN4
    • Q86YN5
    • Q8N1N9
    • Q8TDE4
    • Q8TDE5

    Protein attributes for PPARGC1B Gene

    Size:
    1023 amino acids
    Molecular mass:
    113222 Da
    Quaternary structure:
    • Interacts with hepatocyte nuclear factor 4-alpha/HNF4A, Sterol regulatory binding transcription factor 1/SREBF1, PPAR-alpha/PPARA, thyroid hormone receptor beta/THRB and host cell factor/HCFC1. Interacts with estrogen-related receptor gamma/ESRRG and alpha/ESRRA. Interacts with PRDM16 (By similarity). Interacts with estrogen receptor alpha/ESR1.
    Miscellaneous:
    • [Isoform 5]: Lacks LXXLL motif 1 and has a reduced ability to enhance the hormone-dependent activity of estrogen receptor alpha.

    Three dimensional structures from OCA and Proteopedia for PPARGC1B Gene

    Alternative splice isoforms for PPARGC1B Gene

neXtProt entry for PPARGC1B Gene

Post-translational modifications for PPARGC1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPARGC1B Gene

Domains & Families for PPARGC1B Gene

Gene Families for PPARGC1B Gene

Protein Domains for PPARGC1B Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)

Suggested Antigen Peptide Sequences for PPARGC1B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ41620 fis, clone CTONG3008831, highly similar to Peroxisome proliferator-activated receptor gamma coactivator 1-beta (B3KVW0_HUMAN)
  • PPARGC1B protein (B7ZM40_HUMAN)
  • PGC-1-related estrogen receptor alpha coactivator (PRGC2_HUMAN)
  • PPARGC1B protein (Q8TAL0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86YN6

UniProtKB/Swiss-Prot:

PRGC2_HUMAN :
  • Contains 2 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, which are usually required for the association with nuclear receptors.
Domain:
  • Contains 2 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, which are usually required for the association with nuclear receptors.
genes like me logo Genes that share domains with PPARGC1B: view

Function for PPARGC1B Gene

Molecular function for PPARGC1B Gene

UniProtKB/Swiss-Prot Function:
Plays a role of stimulator of transcription factors and nuclear receptors activities. Activates transcriptional activity of estrogen receptor alpha, nuclear respiratory factor 1 (NRF1) and glucocorticoid receptor in the presence of glucocorticoids. May play a role in constitutive non-adrenergic-mediated mitochondrial biogenesis as suggested by increased basal oxygen consumption and mitochondrial number when overexpressed. May be involved in fat oxidation and non-oxidative glucose metabolism and in the regulation of energy expenditure. Induces the expression of PERM1 in the skeletal muscle in an ESRRA-dependent manner.
UniProtKB/Swiss-Prot Induction:
Repressed by saturated fatty acids such as palmitate and stearate in skeletal muscle cells. Induced by insulin and reduced by aging in skeletal muscle biopsies. Down-regulated in type 2 diabetes mellitus subjects as well as in pre-diabetics.

Phenotypes From GWAS Catalog for PPARGC1B Gene

Gene Ontology (GO) - Molecular Function for PPARGC1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003712 transcription coregulator activity IEA,IDA 11854298
GO:0003723 RNA binding IEA,NAS 11854298
GO:0008134 transcription factor binding IEA,IBA 21873635
GO:0030331 estrogen receptor binding IEA,IDA 11854298
genes like me logo Genes that share ontologies with PPARGC1B: view
genes like me logo Genes that share phenotypes with PPARGC1B: view

Animal Models for PPARGC1B Gene

MGI Knock Outs for PPARGC1B:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPARGC1B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPARGC1B Gene

Localization for PPARGC1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPARGC1B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPARGC1B gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 3
plasma membrane 2
extracellular 2
peroxisome 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPARGC1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11854298
GO:0005654 nucleoplasm IDA,TAS --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IDA --
GO:0016592 mediator complex IDA 11854298
genes like me logo Genes that share ontologies with PPARGC1B: view

Pathways & Interactions for PPARGC1B Gene

genes like me logo Genes that share pathways with PPARGC1B: view

Gene Ontology (GO) - Biological Process for PPARGC1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0006355 regulation of transcription, DNA-templated IEA,IDA 23836911
GO:0006390 mitochondrial transcription IEA --
GO:0007015 actin filament organization IEA --
GO:0010694 positive regulation of alkaline phosphatase activity IEA --
genes like me logo Genes that share ontologies with PPARGC1B: view

No data available for SIGNOR curated interactions for PPARGC1B Gene

Drugs & Compounds for PPARGC1B Gene

(2) Drugs for PPARGC1B Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiodarone Approved, Investigational Pharma Target, agonist 141

(1) Additional Compounds for PPARGC1B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PPARGC1B: view

Transcripts for PPARGC1B Gene

mRNA/cDNA for PPARGC1B Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPARGC1B

Alternative Splicing Database (ASD) splice patterns (SP) for PPARGC1B Gene

No ASD Table

Relevant External Links for PPARGC1B Gene

GeneLoc Exon Structure for
PPARGC1B

Expression for PPARGC1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPARGC1B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPARGC1B

SOURCE GeneReport for Unigene cluster for PPARGC1B Gene:

Hs.483816

mRNA Expression by UniProt/SwissProt for PPARGC1B Gene:

Q86YN6-PRGC2_HUMAN
Tissue specificity: Ubiquitous with higher expression in heart, brain and skeletal muscle.

Evidence on tissue expression from TISSUES for PPARGC1B Gene

  • Muscle(2.6)
  • Heart(2.4)
  • Liver(2.4)
  • Nervous system(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with PPARGC1B: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPARGC1B Gene

Orthologs for PPARGC1B Gene

This gene was present in the common ancestor of animals.

Orthologs for PPARGC1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPARGC1B 29 30
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPARGC1B 29 30
  • 88.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPARGC1B 29 30
  • 86.24 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppargc1b 29 16 30
  • 82.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppargc1b 29
  • 81.91 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PPARGC1B 30
  • 57 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPARGC1B 30
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PPARGC1B 29 30
  • 64.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPARGC1B 30
  • 46 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppargc1b 29
  • 55.31 (n)
Str.17645 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.20150 29
Zebrafish
(Danio rerio)
Actinopterygii ppargc1b 29 30
  • 52.88 (n)
OneToOne
-- 29
Fruit Fly
(Drosophila melanogaster)
Insecta Spargel 30
  • 11 (a)
OneToMany
Species where no ortholog for PPARGC1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PPARGC1B Gene

ENSEMBL:
Gene Tree for PPARGC1B (if available)
TreeFam:
Gene Tree for PPARGC1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPARGC1B: view image
Alliance of Genome Resources:
Additional Orthologs for PPARGC1B

Paralogs for PPARGC1B Gene

Paralogs for PPARGC1B Gene

genes like me logo Genes that share paralogs with PPARGC1B: view

Variants for PPARGC1B Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PPARGC1B Gene

PRGC2_HUMAN-Q86YN6
Variation of PPARGC1B may contribute to the pathogenesis of obesity, with a widespread Ala-203 allele being a risk factor for the development of this common disorders.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPARGC1B Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs114273610 Benign: not provided 149,842,279(+) T/G
NM_133263.4(PPARGC1B):c.2718T>G (p.Ile906Met)
MISSENSE
rs12659862 Benign: not provided 149,833,654(+) C/T
NM_133263.4(PPARGC1B):c.1581C>T (p.Asp527=)
SYNONYMOUS
rs147532359 Benign: not provided 149,826,828(+) C/G
NM_133263.4(PPARGC1B):c.408C>G (p.Pro136=)
SYNONYMOUS
rs150637009 Benign: not provided 149,840,090(+) G/A
NM_133263.4(PPARGC1B):c.2668G>A (p.Ala890Thr)
MISSENSE
rs201352371 Benign: not provided 149,837,082(+) A/G
NM_133263.4(PPARGC1B):c.2618+9A>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPARGC1B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PPARGC1B Gene

Variant ID Type Subtype PubMed ID
dgv10112n54 CNV gain 21841781
dgv727n27 CNV gain 19166990
esv1706104 CNV deletion 17803354
esv24664 CNV gain+loss 19812545
esv2730909 CNV deletion 23290073
esv2730910 CNV deletion 23290073
esv32926 CNV gain 17666407
esv3566805 CNV deletion 23714750
esv3890751 CNV gain 25118596
nsv1019813 CNV gain 25217958
nsv1023343 CNV gain 25217958
nsv1027896 CNV gain 25217958
nsv1073502 CNV deletion 25765185
nsv1073923 CNV deletion 25765185
nsv1143316 CNV deletion 24896259
nsv462482 CNV loss 19166990
nsv462484 CNV loss 19166990
nsv5060 CNV deletion 18451855
nsv5061 CNV insertion 18451855
nsv599949 CNV loss 21841781
nsv599950 CNV loss 21841781
nsv950425 CNV deletion 24416366

Variation tolerance for PPARGC1B Gene

Residual Variation Intolerance Score: 86.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.79; 86.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPARGC1B Gene

Human Gene Mutation Database (HGMD)
PPARGC1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPARGC1B
Leiden Open Variation Database (LOVD)
PPARGC1B

SNP Genotyping and Copy Number Assays for research

Disorders for PPARGC1B Gene

MalaCards: The human disease database

(3) MalaCards diseases for PPARGC1B Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPARGC1B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PPARGC1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPARGC1B Gene

Publications for PPARGC1B Gene

  1. Evidence of an association between genetic variation of the coactivator PGC-1beta and obesity. (PMID: 15863669) Andersen G … Pedersen O (Journal of medical genetics 2005) 3 4 22 40
  2. The PGC-1-related protein PERC is a selective coactivator of estrogen receptor alpha. (PMID: 11854298) Kressler D … Kralli A (The Journal of biological chemistry 2002) 2 3 4 22
  3. Impact of the peroxisome proliferator activated receptor-gamma coactivator-1beta (PGC-1beta) Ala203Pro polymorphism on in vivo metabolism, PGC-1beta expression and fibre type composition in human skeletal muscle. (PMID: 17579828) Ling C … Poulsen P (Diabetologia 2007) 3 22 40
  4. Peroxisome proliferator-activated receptor γ coactivator 1 (PGC-1)- and estrogen-related receptor (ERR)-induced regulator in muscle 1 (Perm1) is a tissue-specific regulator of oxidative capacity in skeletal muscle cells. (PMID: 23836911) Cho Y … Kralli A (The Journal of biological chemistry 2013) 3 4
  5. Single-nucleotide polymorphisms within the antioxidant defence system and associations with aggressive prostate cancer. (PMID: 20477822) Abe M … Chan JM (BJU international 2011) 3 40

Products for PPARGC1B Gene

Sources for PPARGC1B Gene