Disease relevance of IGSF6

• The mouse and human IGSF6 (DORA) genes map to the inflammatory bowel disease 1 locus and are embedded in an intron of a gene of unknown function [1].

High impact information on IGSF6

• We have previously characterized IGSF6 (DORA), a novel member of the immunoglobulin superfamily (IGSF) from human and rat expressed in dendritic and myeloid cells [1].
• The seven SNPs in IGSF6 formed five distinct linkage disequilibrium groups [2].
• Screening of the six exons of IGSF6 for single nucleotide polymorphisms (SNPs) detected four novel SNPs, and validated three of six SNPs listed in the international SNP database (dbSNP) [2].
• Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease [2].
• Its homologue, IGSF6, possible involves in mouse embryonic development [3].

Biological context of IGSF6

• The immunoglobulin superfamily 6 gene (IGSF6) on chromosome 16p11-p12 has been investigated as a positional and functional candidate for inflammatory bowel disease (IBD) susceptibility [2].

Analytical, diagnostic and therapeutic context of IGSF6

• The presence of IGSF6 specific transcript was detected by Northern blot in the RNAs extracted from 11 to 14 day postconception [3].
• In situ hybridization performed on mice embryos sections showed the differential presence of IGSF6 in developing lung and kidney [3].

References