NOD2

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. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Description

Nucleotide binding oligomerization domain containing 2

Tissue specificity

Tissue enhanced (bone marrow, esophagus, skin , vagina)

Subcell location

Golgi apparatus, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

16 (50693588 - 50734041)

Ensembl ID

ENSG00000167207  (ver. 103.38)

Orthologs

Mouse Nod2: ENSMUSG00000055994

UniProt

Q9HC29

neXtProt

NX_Q9HC29

Human splice variants
Mouse splice variants

Protein structure