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

Gene: EGFL8

Alternate names for this Gene: C6orf8|NG3

Gene Summary:

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: EGF like domain multiple 8

Type of Gene: protein-coding

rs3096697 in PPT2-EGFL8;PPT2;EGFL8 gene and Membranous glomerulonephritis PMID 21323541 2011 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

rs2849013 in PPT2-EGFL8;PPT2;EGFL8 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.

rs3096697 in PPT2-EGFL8;PPT2;EGFL8 gene and Vitiligo PMID 20526339 2010 Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.