Gene: PPT2

Alternate names for this Gene: C6orf8|G14|PPT-2

Gene Summary: This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: palmitoyl-protein thioesterase 2

Type of Gene: protein-coding

Gene: PPT2-EGFL8

Alternate names for this Gene: PPT-2|PPT2

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring PPT2 (palmitoyl-protein thioesterase 2) and EGFL8 (EGF-like-domain, multiple 8) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: PPT2-EGFL8 readthrough (NMD candidate)

Type of Gene: ncRNA

rs9267812 in PPT2;PPT2-EGFL8 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs9267812 in PPT2;PPT2-EGFL8 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs3134950 in PPT2;PPT2-EGFL8 gene and Fatty acid measurement PMID 23362303 2013 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.

rs3134950 in PPT2;PPT2-EGFL8 gene and Phospholipid measurement PMID 23362303 2013 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.