Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferator... See more...

Aliases for PPARA Gene

Aliases for PPARA Gene

  • Peroxisome Proliferator Activated Receptor Alpha 2 3 5
  • Peroxisome Proliferator-Activated Receptor Alpha 2 3 4
  • NR1C1 2 3 4
  • Peroxisome Proliferative Activated Receptor, Alpha 2 3
  • Nuclear Receptor Subfamily 1 Group C Member 1 3 4
  • PPAR-Alpha 3 4
  • HPPAR 2 3
  • PPAR 3 4
  • Peroxisome Proliferator-Activated Nuclear Receptor Alpha Variant 3 3
  • PPARalpha 3
  • PPARA 5

External Ids for PPARA Gene

Previous HGNC Symbols for PPARA Gene

  • PPAR

Previous GeneCards Identifiers for PPARA Gene

  • GC22P043114
  • GC22P044760
  • GC22P044868
  • GC22P044954
  • GC22P046546
  • GC22P029490

Summaries for PPARA Gene

Entrez Gene Summary for PPARA Gene

  • Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPARA Gene

PPARA (Peroxisome Proliferator Activated Receptor Alpha) is a Protein Coding gene. Diseases associated with PPARA include Fatty Liver Disease and Lipid Metabolism Disorder. Among its related pathways are Organelle biogenesis and maintenance and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is PPARD.

UniProtKB/Swiss-Prot Summary for PPARA Gene

  • Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl-2-oleoyl-sn-glycerol-3-phosphocholine (16:0/18:1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regulates satiety. Receptor for peroxisome proliferators such as hypolipidemic drugs and fatty acids. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the ACOX1 and P450 genes. Transactivation activity requires heterodimerization with RXRA and is antagonized by NR2C2. May be required for the propagation of clock information to metabolic pathways regulated by PER2.

Tocris Summary for PPARA Gene

  • Peroxisome proliferator-activated receptor alpha (PPARalpha) is a member of the nuclear receptor family of ligand-activated transcription factors that heterodimerize with the retinoic X receptor (RXR) to regulate gene expression.

Gene Wiki entry for PPARA Gene

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

Genomics for PPARA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPARA 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 PPARA on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the PPARA gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4

Genomic Locations for PPARA Gene

Genomic Locations for PPARA Gene
chr22:46,150,521-46,243,756
(GRCh38/hg38)
Size:
93,236 bases
Orientation:
Plus strand
chr22:46,546,424-46,639,653
(GRCh37/hg19)
Size:
93,230 bases
Orientation:
Plus strand

Genomic View for PPARA Gene

Genes around PPARA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PPARA Gene

Proteins for PPARA Gene

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

    Protein Symbol:
    Q07869-PPARA_HUMAN
    Recommended name:
    Peroxisome proliferator-activated receptor alpha
    Protein Accession:
    Q07869
    Secondary Accessions:
    • B0G0X3
    • Q16241
    • Q6I9S0
    • Q92486
    • Q92689
    • Q9Y3N1

    Protein attributes for PPARA Gene

    Size:
    468 amino acids
    Molecular mass:
    52225 Da
    Quaternary structure:
    • Heterodimer; with RXRA. This heterodimerization is required for DNA binding and transactivation activity. Interacts with NCOA3 coactivator. Interacts with CITED2; the interaction stimulates its transcriptional activity. Also interacts with PPARBP in vitro. Interacts with AKAP13, LPIN1, PRDM16 and coactivator NCOA6. Interacts with ASXL1 and ASXL2. Interacts with PER2. Interacts with SIRT1; the interaction seems to be modulated by NAD(+) levels (PubMed:24043310). Interacts with CRY1 and CRY2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for PPARA Gene

    Alternative splice isoforms for PPARA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPARA Gene

Post-translational modifications for PPARA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for PPARA Gene

Domains & Families for PPARA Gene

Gene Families for PPARA Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for PPARA Gene

InterPro:
Blocks:
  • Steroid hormone receptor signature
  • Peroxisome proliferator-activated receptor (1C nuclear receptor) signature
  • Peroxisome proliferator-activated receptor alpha signature
ProtoNet:

Suggested Antigen Peptide Sequences for PPARA Gene

GenScript: Design optimal peptide antigens:
  • Peroxisome proliferator-activated receptor alpha splice variant (B0G0X3_HUMAN)
  • Peroxisome proliferator-activated nuclear receptor alpha variant 3 (F1D8S4_HUMAN)
  • Nuclear receptor subfamily 1 group C member 1 (PPARA_HUMAN)
  • Peroxisome proliferator-activated receptor alpha (Q86SF0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q07869

UniProtKB/Swiss-Prot:

PPARA_HUMAN :
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with PPARA: view

Function for PPARA Gene

Molecular function for PPARA Gene

UniProtKB/Swiss-Prot Function:
Ligand-activated transcription factor. Key regulator of lipid metabolism. Activated by the endogenous ligand 1-palmitoyl-2-oleoyl-sn-glycerol-3-phosphocholine (16:0/18:1-GPC). Activated by oleylethanolamide, a naturally occurring lipid that regulates satiety. Receptor for peroxisome proliferators such as hypolipidemic drugs and fatty acids. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the ACOX1 and P450 genes. Transactivation activity requires heterodimerization with RXRA and is antagonized by NR2C2. May be required for the propagation of clock information to metabolic pathways regulated by PER2.
UniProtKB/Swiss-Prot Induction:
Down-regulated by aging.
GENATLAS Biochemistry:
peroxisome proliferator-activated receptor,alpha isoform,steroid/thyroid hormone receptor superfamily,heterodimerizing with RXR*,highly expressed in liver,involved in the control of fatty acid synthesis,oxidation and ketogenesis,plyaing a critical role in the cellular fasting response

Phenotypes From GWAS Catalog for PPARA Gene

Gene Ontology (GO) - Molecular Function for PPARA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA --
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 9748239
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001103 RNA polymerase II repressing transcription factor binding IBA,IPI 19955185
genes like me logo Genes that share ontologies with PPARA: view
genes like me logo Genes that share phenotypes with PPARA: view

Animal Models for PPARA Gene

MGI Knock Outs for PPARA:
  • Ppara Ppara<tm1Gonz>
  • Ppara Ppara<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for PPARA

CRISPR Products

miRNA for PPARA Gene

miRTarBase miRNAs that target PPARA

Transcription Factor Targets for PPARA Gene

Selected GeneGlobe predicted Target genes for PPARA

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for PPARA

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

Localization for PPARA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPARA 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 PPARA gene
Compartment Confidence
nucleus 5
peroxisome 4
cytosol 4
plasma membrane 3
extracellular 3
mitochondrion 3
endoplasmic reticulum 3
cytoskeleton 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPARA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,TAS 16271724
GO:0005654 nucleoplasm TAS --
GO:0042025 host cell nucleus IEA --
GO:0090575 RNA polymerase II transcription factor complex IBA 21873635
genes like me logo Genes that share ontologies with PPARA: view

Pathways & Interactions for PPARA Gene

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

Pathways by source for PPARA Gene

2 GeneGo (Thomson Reuters) pathways for PPARA Gene
  • Transcription PPAR Pathway
  • Transcription Sin3 and NuRD in transcription regulation
2 Qiagen pathways for PPARA Gene
  • PGC1Alpha Pathway
  • PPAR Pathway

SIGNOR curated interactions for PPARA Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PPARA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 9748239
GO:0001666 response to hypoxia IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006629 lipid metabolic process TAS 7684926
genes like me logo Genes that share ontologies with PPARA: view

Drugs & Compounds for PPARA Gene

(153) Drugs for PPARA Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fenofibrate Approved Pharma Target, agonist PPARalpha agonist 185
Bezafibrate Approved, Investigational Pharma Agonist, Target, agonist 16
Clofibrate Approved, Investigational Pharma Agonist, Target, agonist, activator 2
Gemfibrozil Approved Pharma Agonist, Inhibitor, Inhibition, Target, agonist, activator 30
Ciprofibrate Approved, Investigational Pharma Agonist, Target, agonist 3

(90) Additional Compounds for PPARA Gene - From: HMDB, Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
oleoylethanolamide
Agonist
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1

(5) Tocris Compounds for PPARA Gene

Compound Action Cas Number
CP 775146 Selective, high affinity PPARalpha agonist 702680-17-9
Fenofibrate PPARalpha agonist 49562-28-9
GW 6471 PPARalpha antagonist 880635-03-0
GW 7647 Highly selective, potent PPARalpha agonist. Orally active 265129-71-3
WY 14643 Selective PPARalpha agonist 50892-23-4

(25) ApexBio Compounds for PPARA Gene

Compound Action Cas Number
15-deoxy-Δ-12,14-Prostaglandin J2 87893-55-8
AUDA 479413-70-2
BADGE 1675-54-3
Balaglitazone PPAR-γ partial agonist 199113-98-9
Bezafibrate 41859-67-0
Ciglitazone 74772-77-3
Ciprofibrate 52214-84-3
Clofibrate 637-07-0
Clofibric Acid 882-09-7
CP 775146 702680-17-9
Fenofibrate 49562-28-9
Gemfibrozil 25812-30-0
GSK 0660 1014691-61-2
GW 7647 265129-71-3
GW0742 PPARδ/β agonist,potent and selective 317318-84-6
GW9662 PPARγ antagonist 22978-25-2
Inolitazone dihydrochloride PPARγ agonist,high-affinity and novel 223132-38-5
Pioglitazone 111025-46-8
Rosiglitazone HCl 302543-62-0
Rosiglitazone maleate PPARγ agonist,high-affinity and selective,potent insulin sensitizer 155141-29-0
S26948 353280-43-0
SR 1664 1338259-05-4
SR 202 PPAR antagonist 76541-72-5
Tesaglitazar 251565-85-2
WY-14643 (Pirinixic Acid) PPARα agonist,selective and highly potent 50892-23-4
genes like me logo Genes that share compounds with PPARA: view

Drug Products

Transcripts for PPARA Gene

mRNA/cDNA for PPARA Gene

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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for PPARA

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b
SP1: - - -
SP2: - - -
SP3: -
SP4: - - - -
SP5: - - - -
SP6: - - -
SP7: - - - -
SP8: -

Relevant External Links for PPARA Gene

GeneLoc Exon Structure for
PPARA

Expression for PPARA Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPARA Gene

This gene is overexpressed in Liver (x5.8).

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

SOURCE GeneReport for Unigene cluster for PPARA Gene:

Hs.103110

mRNA Expression by UniProt/SwissProt for PPARA Gene:

Q07869-PPARA_HUMAN
Tissue specificity: Skeletal muscle, liver, heart and kidney. Expressed in monocytes (PubMed:28167758).

Evidence on tissue expression from TISSUES for PPARA Gene

  • Liver(4.8)
  • Nervous system(4.7)
  • Muscle(3.8)
  • Heart(3.7)
  • Kidney(3.6)
  • Blood(3.5)
  • Intestine(3.3)
  • Skin(3.1)
  • Pancreas(3)
  • Thyroid gland(2.9)
  • Spleen(2.9)
  • Adrenal gland(2.7)
  • Stomach(2.5)
  • Lung(2.4)
  • Bone marrow(2.4)
  • Urine(2.3)
  • Lymph node(2.3)
  • Gall bladder(2.3)
  • Bone(2.3)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with PPARA: view

No data available for 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 PPARA Gene

Orthologs for PPARA Gene

This gene was present in the common ancestor of chordates.

Orthologs for PPARA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPARA 30 31
  • 99.57 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPARA 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PPARA 30 31
  • 87.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPARA 30 31
  • 85.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppara 30 17 31
  • 85.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppara 30
  • 85.19 (n)
Oppossum
(Monodelphis domestica)
Mammalia PPARA 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PPAR 31
  • 89 (a)
OneToOne
PPARA 30
  • 79.2 (n)
Lizard
(Anolis carolinensis)
Reptilia PPARA 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100497346 30
  • 73.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68537 30
Zebrafish
(Danio rerio)
Actinopterygii pparab 31 31
  • 77 (a)
OneToMany
LOC100534818 30
  • 72.67 (n)
pparaa 31
  • 66 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 25 (a)
OneToMany
Species where no ortholog for PPARA 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 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 PPARA Gene

ENSEMBL:
Gene Tree for PPARA (if available)
TreeFam:
Gene Tree for PPARA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPARA: view image

Paralogs for PPARA Gene

(13) SIMAP similar genes for PPARA Gene using alignment to 5 proteins:

  • PPARA_HUMAN
  • B0QYX1_HUMAN
  • B0QYX2_HUMAN
  • L8E859_HUMAN
  • Q86SF0_HUMAN
genes like me logo Genes that share paralogs with PPARA: view

Variants for PPARA Gene

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

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
727172 Benign: not provided 46,219,853(+) C/T SYNONYMOUS_VARIANT
731182 Likely Benign: not provided 46,215,209(+) C/T MISSENSE_VARIANT
734299 Likely Benign: not provided 46,232,073(+) G/A SYNONYMOUS_VARIANT
738459 Likely Benign: not provided 46,215,279(+) C/T SYNONYMOUS_VARIANT
744956 Likely Benign: not provided 46,235,130(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PPARA Gene

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

Variant ID Type Subtype PubMed ID
dgv1328e212 CNV loss 25503493
dgv2469n106 OTHER inversion 24896259
esv2667871 CNV deletion 23128226
esv3403009 CNV duplication 20981092
esv3558259 CNV deletion 23714750
esv3568451 CNV loss 25503493
esv3568455 CNV loss 25503493
esv3568456 CNV loss 25503493
esv3568457 CNV loss 25503493
esv3647943 CNV loss 21293372
esv3647944 CNV loss 21293372
esv3647945 CNV loss 21293372
esv3647946 CNV loss 21293372
esv3647947 CNV loss 21293372
esv3647949 CNV loss 21293372
nsv1071457 CNV deletion 25765185
nsv1073169 CNV deletion 25765185
nsv1123606 CNV deletion 24896259
nsv1152661 OTHER inversion 26484159
nsv191496 CNV deletion 16902084
nsv474632 CNV novel sequence insertion 20440878
nsv819654 CNV gain 19587683
nsv829281 CNV gain 20364138
nsv829293 CNV gain 20364138
nsv834224 CNV loss 17160897

Variation tolerance for PPARA Gene

Residual Variation Intolerance Score: 40.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.37; 85.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPARA Gene

Human Gene Mutation Database (HGMD)
PPARA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPARA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPARA Gene

Disorders for PPARA Gene

MalaCards: The human disease database

(65) MalaCards diseases for PPARA Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fatty liver disease
  • steatosis of liver
lipid metabolism disorder
  • dyslipidemia
non-alcoholic steatohepatitis
  • non-alcoholic fatty liver disease
alcoholic cardiomyopathy
  • alcohol-induced heart muscle disease
liver disease
  • disorder of liver
- elite association - COSMIC cancer census association via MalaCards
Search PPARA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PPARA

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

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

Publications for PPARA Gene

  1. Associations of polymorphisms of eight muscle- or metabolism-related genes with performance in Mount Olympus marathon runners. (PMID: 20044476) Tsianos GI … Ioannidis JP (Journal of applied physiology (Bethesda, Md. : 1985) 2010) 3 23 41
  2. Association of PPARalpha gene polymorphisms and lipid serum levels in a Brazilian elderly population. (PMID: 19822141) Chen ES … Smith Mde A (Experimental and molecular pathology 2010) 3 23 41
  3. Do PPARGC1A and PPARalpha polymorphisms influence sprint or endurance phenotypes? (PMID: 19422653) Eynon N … Oliveira J (Scandinavian journal of medicine & science in sports 2010) 3 23 41
  4. Optimization of an enzyme-linked immunosorbent assay to screen ligand of Peroxisome proliferator-activated receptor alpha. (PMID: 19263263) Cho MC … Yoon DY (Immunopharmacology and immunotoxicology 2009) 3 4 23
  5. Genetic variation in the ADIPOR2 gene is associated with liver fat content and its surrogate markers in three independent cohorts. (PMID: 19208777) Kotronen A … Fisher RM (European journal of endocrinology 2009) 3 23 41

Products for PPARA Gene

  • Addgene plasmids for PPARA
  • Signalway ELISA kits for PPARA
  • Signalway Proteins for PPARA

Sources for PPARA Gene