Basic Information

PPARGC1A

Full name: PPARG coactivator 1 alpha

Gene type: protein coding

HGNC ID: HGNC:9237

Gene location: 4p15.2

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/10891

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:9237

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_013261.5

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q9UBK2

AlphaFold: https://alphafold.ebi.ac.uk/entry/Q9UBK2

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/604517

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=10891

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa04152+10891

Variant resources

Gene Disease type Variant type NCBI dbSNP Alleles Variant location
PPARGC1A Michigan-nvAMD Non Coding Transcript Variant rs3774923 C>T chr4:23793441 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs12650562 C>G / C>T chr4:23799564 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs7682765 T>C chr4:23801584 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs2932965 A>G / A>T chr4:23803863 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs3774921 C>G / C>T chr4:23809024 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Missense Variant rs3736265 G>A / G>T chr4:23813084 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Missense Variant rs8192678 C>T chr4:23814039 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs3755862 C>A / C>T chr4:23815214 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs2970848 A>C / A>G chr4:23815404 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs2932976 G>A / G>C chr4:23820705 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs2970853 A>C / A>G / A>T chr4:23821896 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs6448226 G>A chr4:23835030 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs7665116 T>A / T>C chr4:23851388 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs6850464 A>G chr4:23857859 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs4235308 T>C / T>G chr4:23862789 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs4550905 G>A / G>C / G>T chr4:23873936 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs4361373 C>G / C>T chr4:23874052 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs17637318 T>C / T>G chr4:23879362 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Intron Variant rs4469064 A>G chr4:23882173 (GRCh38.p13)
PPARGC1A Michigan-nvAMD Stop Gained rs2946385 G>A / G>T chr4:23884700 (GRCh38.p13)