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

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

rs3134603 in PPT2-EGFL8;PPT2 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs3134603 in PPT2-EGFL8;PPT2 gene and Multiple Myeloma PMID 23955597 2013 Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.

rs3134603 in PPT2-EGFL8;PPT2 gene and Multiple Sclerosis PMID 20598377 2010 Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.

rs10947233 in PPT2-EGFL8;PPT2 gene and Pulmonary Emphysema PMID 24383474 2014 Among 7,914 participants, we identified regions at genome-wide significance for percent emphysema in or near SNRPF (rs7957346; P = 2.2 × 10(-8)) and PPT2 (rs10947233; P = 3.2 × 10(-8)), both of which replicated in an additional 6,023 individuals of European ancestry.

rs10947233 in PPT2-EGFL8;PPT2 gene and Pulmonary function PMID 20010835 2010 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

rs10947233 in PPT2-EGFL8;PPT2 gene and Pulmonary function (finding) PMID 20010835 2010 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

rs10947233 in PPT2-EGFL8;PPT2 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.