Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: RIPK2Comment on list classification: Not associated with a disease in OMIM or G2P, not found in Orphanet, and not associated with this phenotype in DECIPHER. All pathogenic variants in ClinVar are large structural variants including many genes.Created: 13 Oct 2016, 1:43 p.m.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Publications for RIPK2 were set to PMID: 20452301 - RIP2 expression levels significantly increased in colonic mucosa of children with ulcerative colitis compared to controls, and was also upregulated (p<0.01) in the ileum of both pancolitis and left-sided colitis children; PMID: 25213858 - Using these markers and the FDA-approved RIPK2 inhibitor Gefitinib, we show that pharmacologic RIPK2 inhibition drastically improves disease in a spontaneous model of Crohn Disease-like ileitis. Furthermore, using novel RIPK2-specific inhibitors, we show that cellular recruitment is inhibited in an in vivo peritonitis model. Altogether, the data presented in this work provides a strong rationale for further development and optimization of RIPK2-targeted pharmaceuticals and diagnostics; PMID: 20645315 - SNP association study in patients with IBD "No significant association was observed with IBD, CD, or UC and any single SNP including the nonconservative variant rs2230801...These results indicate that Rip2 does not seem to play a crucial role in the genetic predisposition to IBD."
Publications for RIPK2 were set to PMID: 20452301 - RIP2 expression levels significantly increased in colonic mucosa of children with ulcerative colitis compared to controls, and was also upregulated (p<0.01) in the ileum of both pancolitis and left-sided colitis children; PMID: 25213858 - Using these markers and the FDA-approved RIPK2 inhibitor Gefitinib, we show that pharmacologic RIPK2 inhibition drastically improves disease in a spontaneous model of Crohn Disease-like ileitis. Furthermore, using novel RIPK2-specific inhibitors, we show that cellular recruitment is inhibited in an in vivo peritonitis model. Altogether, the data presented in this work provides a strong rationale for further development and optimization of RIPK2-targeted pharmaceuticals and diagnostics.
This gene has been classified as Red List (Low Evidence).
RIPK2 was created by ellenmcdonagh
RIPK2 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list