PPARD

peroxisome proliferator activated receptor delta, the group of Peroxisome proliferator activated receptors

Basic information

Region (hg38): 6:35342557-35428191

Links

ENSG00000112033 ∙ NCBI:5467 ∙ OMIM:600409 ∙ HGNC:9235 ∙ Uniprot:Q03181 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PPARD gene.

• Inborn genetic diseases (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPARD gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	0

Variants in PPARD

This is a list of pathogenic ClinVar variants found in the PPARD region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-35411121-C-T		not specified	Uncertain significance (Dec 20, 2021)
6-35411148-G-C		not specified	Uncertain significance (Jan 20, 2023)
6-35411206-G-A		not specified	Uncertain significance (Apr 11, 2023)
6-35420192-T-G		not specified	Uncertain significance (Nov 14, 2023)
6-35420198-G-A		not specified	Uncertain significance (Apr 28, 2022)
6-35420228-G-A		not specified	Uncertain significance (Aug 17, 2022)
6-35421842-G-A		not specified	Uncertain significance (Dec 08, 2023)
6-35423994-C-T		not specified	Uncertain significance (Jul 06, 2022)
6-35424028-C-A		not specified	Uncertain significance (Sep 27, 2022)
6-35424095-A-G		not specified	Uncertain significance (Oct 29, 2021)
6-35424144-C-G		not specified	Uncertain significance (Aug 16, 2022)
6-35424344-G-A		not specified	Uncertain significance (Jan 09, 2024)
6-35424590-A-G		not specified	Uncertain significance (Nov 09, 2021)
6-35424593-G-A		not specified	Uncertain significance (Jul 21, 2021)
6-35424654-G-A		not specified	Uncertain significance (Dec 14, 2021)
6-35425852-G-A		not specified	Uncertain significance (Jul 14, 2022)
6-35425879-A-T		not specified	Uncertain significance (Oct 29, 2021)
6-35425987-G-A		not specified	Uncertain significance (May 10, 2022)
6-35426036-C-T		not specified	Likely benign (Dec 07, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPARD	protein_coding	protein_coding	ENST00000311565	6	85634

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.995	0.00502	125738	0	9	125747	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.48	163	280	0.583	0.0000185	2912
Missense in Polyphen		51	118.74	0.4295		1211
Synonymous	0.712	105	115	0.915	0.00000785	848
Loss of Function	3.67	0	15.7	0.00	6.68e-7	199

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000208	0.000207
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000281	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Ligand-activated transcription factor. Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Has a preference for poly-unsaturated fatty acids, such as gamma-linoleic acid and eicosapentanoic acid. Once activated by a ligand, the receptor binds to promoter elements of target genes. Regulates the peroxisomal beta-oxidation pathway of fatty acids. Functions as transcription activator for the acyl-CoA oxidase gene. Decreases expression of NPC1L1 once activated by a ligand. {ECO:0000269|PubMed:1333051, ECO:0000269|PubMed:15604518}.
• Pathway: Acute myeloid leukemia - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Wnt signaling pathway - Homo sapiens (human);NHR;Energy Metabolism;Nuclear Receptors;Adipogenesis;Ectoderm Differentiation;Vitamin D Receptor Pathway;Nuclear Receptors Meta-Pathway;NRF2 pathway;Nuclear Receptors in Lipid Metabolism and Toxicity;Wnt-beta-catenin Signaling Pathway in Leukemia;PPAR signaling pathway;Wnt Signaling Pathway and Pluripotency;Liver steatosis AOP;SCFA and skeletal muscle substrate metabolism;Signal Transduction;Gene expression (Transcription);wnt signaling pathway;Generic Transcription Pathway;Metabolism of lipids;Regulation of pyruvate dehydrogenase (PDH) complex;Pyruvate metabolism;basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression;Pyruvate metabolism and Citric Acid (TCA) cycle;Import of palmitoyl-CoA into the mitochondrial matrix;Nuclear Receptor transcription pathway;RNA Polymerase II Transcription;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;Fatty acid metabolism;Signaling by Retinoic Acid;Signaling by Nuclear Receptors;RXR and RAR heterodimerization with other nuclear receptor;Presenilin action in Notch and Wnt signaling (Consensus)

Recessive Scores

• pRec: 0.610

Intolerance Scores

• loftool: 0.0103
• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.44

Haploinsufficiency Scores

• pHI: 0.675
• hipred: Y
• hipred_score: 0.825
• ghis: 0.601

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.991

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ppard
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; skeleton phenotype; immune system phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; neoplasm; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); hematopoietic system phenotype; growth/size/body region phenotype; muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;glucose metabolic process;proteoglycan metabolic process;generation of precursor metabolites and energy;regulation of transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;lipid metabolic process;fatty acid metabolic process;fatty acid beta-oxidation;vitamin A metabolic process;apoptotic process;multicellular organism development;heart development;embryo implantation;cholesterol metabolic process;cell population proliferation;axon ensheathment;phospholipid biosynthetic process;fatty acid catabolic process;mRNA transcription;response to glucose;hormone-mediated signaling pathway;negative regulation of cholesterol storage;positive regulation of phosphatidylinositol 3-kinase signaling;response to activity;regulation of skeletal muscle satellite cell proliferation;negative regulation of smooth muscle cell migration;fatty acid transport;regulation of lipid metabolic process;cell differentiation;negative regulation of cell growth;intracellular receptor signaling pathway;cell-substrate adhesion;positive regulation of insulin secretion;negative regulation of collagen biosynthetic process;response to vitamin A;response to lipid;wound healing;negative regulation of apoptotic process;steroid hormone mediated signaling pathway;positive regulation of skeletal muscle tissue regeneration;keratinocyte proliferation;positive regulation of fat cell differentiation;negative regulation of myoblast differentiation;positive regulation of epidermis development;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;decidualization;negative regulation of smooth muscle cell proliferation;negative regulation of epithelial cell proliferation;negative regulation of inflammatory response;keratinocyte migration;adipose tissue development;cellular response to lipopolysaccharide;cellular response to hypoxia;apoptotic signaling pathway;positive regulation of blood vessel diameter;negative regulation of pri-miRNA transcription by RNA polymerase II;glucose transmembrane transport;positive regulation of myoblast proliferation
• Cellular component: nuclear chromatin;nucleus;nucleoplasm;RNA polymerase II transcription factor complex
• Molecular function: transcription regulatory region sequence-specific DNA binding;RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;RNA polymerase II repressing transcription factor binding;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;steroid hormone receptor activity;nuclear receptor activity;fatty acid binding;protein binding;transcription factor binding;drug binding;zinc ion binding;lipid binding;nuclear receptor transcription coactivator activity;signaling receptor activity;protein heterodimerization activity;NF-kappaB binding;linoleic acid binding