Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PPARGC1B Gene

Aliases for PPARGC1B Gene

  • PPARG Coactivator 1 Beta 2 3 5
  • Peroxisome Proliferator-Activated Receptor Gamma, Coactivator 1 Beta 2 3
  • 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
  • PGC1B 3 4
  • PERC 3 4
  • Peroxisome Proliferative Activated Receptor, Gamma, Coactivator 1, Beta 2
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Beta 3
  • PGC-1(Beta) 3
  • PGC-1-Beta 4
  • 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 Body Mass Index Quantitative Trait Locus 11 and Kidney Lipoma. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is PPRC1.

UniProtKB/Swiss-Prot 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

Additional gene information for PPARGC1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPARGC1B Gene

Genomics for PPARGC1B Gene

GeneHancer (GH) Regulatory Elements for PPARGC1B Gene

Promoters and enhancers for PPARGC1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I149729 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 563.9 +1.6 1563 4 HDGF FOXA2 CLOCK ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 PPARGC1B GC05P149733 GC05P149734 MIR378A IL17B HMGXB3 CAMK2A AFAP1L1 ARHGEF37 CDX1
GH05I149727 Enhancer 0.7 dbSUPER 556.3 -1.9 -1925 2.4 BCOR KLF1 LEF1 KLF17 ZMYM3 RARA ZKSCAN1 ZNF121 ZNF335 ADNP PPARGC1B RNU6-588P RN7SL868P
GH05I149756 Enhancer 0.7 ENCODE dbSUPER 17.3 +27.2 27231 1.5 CTBP1 ZNF687 NFIB CREB1 HNF4A FOXA1 PPARGC1B MIR378A ENSG00000221043 RNU6-588P GC05P149733 GC05P149853
GH05I149935 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5 +211.1 211082 12.4 PKNOX1 SMAD1 FOXA2 ARNT SIN3A FEZF1 POLR2B ZNF766 FOS JUNB ENSG00000200334 GC05M149941 PDE6A SLC26A2 PPARGC1B CSNK1A1 CD74 HMGXB3
GH05I149751 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.7 +21.9 21866 0.6 SRF TEAD4 TAL1 HMBOX1 CBFA2T3 ZBTB33 SPI1 PPARGC1B ENSG00000221043 RNU6-588P GC05P149733 GC05P149853
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PPARGC1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPARGC1B gene promoter:

Genomic Locations for PPARGC1B Gene

Genomic Locations for PPARGC1B Gene
chr5:149,730,252-149,857,874
(GRCh38/hg38)
Size:
127,623 bases
Orientation:
Plus strand
chr5:149,109,815-149,234,585
(GRCh37/hg19)

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.

    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

No Post-translational modifications

No data available for DME Specific Peptides for PPARGC1B Gene

Domains & Families for PPARGC1B Gene

Gene Families for PPARGC1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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:0001104 RNA polymerase II transcription cofactor activity IDA 11854298
GO:0003676 nucleic acid binding IEA --
GO:0003712 transcription cofactor activity IEA --
GO:0003723 RNA binding NAS,IEA 11854298
GO:0008134 transcription factor binding IBA,IEA --
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:

Clone Products

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 3
cytosol 3
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPARGC1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11854298
GO:0005654 nucleoplasm TAS --
GO:0005739 mitochondrion IEA --
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA,IDA 23836911
GO:0006390 mitochondrial transcription IEA --
GO:0007015 actin filament organization 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: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-(4-((2-(4-(Trifluoromethyl)phenyl)-5-methylthiazol-4-yl)methylthio)-2- methylphenoxy)acetic acid Pharma 0

(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

Drug Products

Transcripts for PPARGC1B Gene

Unigene Clusters for PPARGC1B Gene

Peroxisome proliferator-activated receptor gamma, coactivator 1 beta:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for PPARGC1B Gene

GeneLoc Exon Structure for
PPARGC1B
ECgene alternative splicing isoforms for
PPARGC1B

Expression for PPARGC1B Gene

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

NURSA nuclear receptor signaling pathways regulating expression of PPARGC1B Gene:

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(2.1)
  • Heart(2)
  • Liver(2)
genes like me logo Genes that share expression patterns with PPARGC1B: view

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 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia PPARGC1B 33 34
  • 88.33 (n)
cow
(Bos Taurus)
Mammalia PPARGC1B 33 34
  • 86.24 (n)
mouse
(Mus musculus)
Mammalia Ppargc1b 33 16 34
  • 82.74 (n)
rat
(Rattus norvegicus)
Mammalia Ppargc1b 33
  • 81.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPARGC1B 34
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPARGC1B 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPARGC1B 33 34
  • 64.07 (n)
lizard
(Anolis carolinensis)
Reptilia PPARGC1B 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppargc1b 33
  • 55.31 (n)
Str.17645 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.20150 33
zebrafish
(Danio rerio)
Actinopterygii ppargc1b 33 34
  • 52.88 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Spargel 34
  • 11 (a)
OneToMany
Species where no ortholog for PPARGC1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

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 from dbSNP and Humsavar for PPARGC1B Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs150127383 uncertain-significance, Retinitis Pigmentosa, Recessive 149,858,233(+) T/C downstream_transcript_variant
rs17110632 likely-benign, Retinitis Pigmentosa, Recessive 149,858,124(+) C/G downstream_transcript_variant
rs30884 likely-benign, Retinitis Pigmentosa, Recessive 149,858,353(+) C/T downstream_transcript_variant
rs367679417 uncertain-significance, Retinitis Pigmentosa, Recessive 149,858,269(+) G/C/T downstream_transcript_variant
rs569137634 uncertain-significance, Retinitis Pigmentosa, Recessive 149,858,254(+) CATAA/ downstream_transcript_variant

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

Disorders for PPARGC1B Gene

MalaCards: The human disease database

(5) MalaCards diseases for PPARGC1B Gene - From: HGMD, OMIM, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
body mass index quantitative trait locus 11
  • bmiq11
kidney lipoma
  • lipoma of kidney
vulvitis
vulvar disease
  • vulvar disorders
diabetes mellitus
  • diabetes
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPARGC1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 44 58
  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 58
  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 44 58
  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 58
  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 44 58

Products for PPARGC1B Gene

Sources for PPARGC1B Gene

Content
Loading form....