NOD2
LOCUS ID64127
GENE_SYMBOLNOD2
GENE NAMEnucleotide-binding oligomerization domain containing 2
SYNONYMNSCD, ACUG, BLAU, IBD1, NLRC2, NOD2B, CARD15, CLR16.3, PSORA
CHROMOSOME16
HOMOLOGENE ID11156
microRNAsNANA
GENE SUMMARY
This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Altertively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Thus, NOD2 is one of the critical components of a signal transduction pathway that links renal injury to inflammation and podocyte insulin resistance in diabetic nephropathy.23594678