NOD2 (nucleotide binding oligomerization domain containing 2)

2006-10-01 Affiliation

Identity

HGNC

NOD2

LOCATION

16q12.1

LOCUSID

64127

ALIAS

ACUG,BLAU,BLAUS,CARD15,CD,CLR16.3,IBD1,NLRC2,NOD2B,PSORAS1,YAOS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 64127
MIM: 605956
HGNC: 5331
Ensembl: ENSG00000167207

Variants:

dbSNP: 64127
ClinVar: 64127
TCGA: ENSG00000167207
COSMIC: NOD2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000167207	ENST00000300589	Q9HC29
ENSG00000167207	ENST00000524712	J3QL80
ENSG00000167207	ENST00000527052	J3QL80
ENSG00000167207	ENST00000527070	E9PLF7
ENSG00000167207	ENST00000529633	J3QL80
ENSG00000167207	ENST00000531674	E9PK30
ENSG00000167207	ENST00000534057	H0YF53
ENSG00000167207	ENST00000534067	J3QL80
ENSG00000167207	ENST00000641284	A0A286YF65
ENSG00000167207	ENST00000646677	A0A286YF65
ENSG00000167207	ENST00000647318	Q9HC29

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Shigellosis	KEGG	hsa05131
NOD-like receptor signaling pathway	KEGG	ko04621
NOD-like receptor signaling pathway	KEGG	hsa04621
Tuberculosis	KEGG	ko05152
Tuberculosis	KEGG	hsa05152
TNF signaling pathway	KEGG	hsa04668
TNF signaling pathway	KEGG	ko04668
Inflammatory bowel disease (IBD)	KEGG	hsa05321
Inflammatory bowel disease (IBD)	KEGG	ko05321
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Toll-Like Receptors Cascades	REACTOME	R-HSA-168898
Toll Like Receptor 10 (TLR10) Cascade	REACTOME	R-HSA-168142
MyD88 cascade initiated on plasma membrane	REACTOME	R-HSA-975871
TAK1 activates NFkB by phosphorylation and activation of IKKs complex	REACTOME	R-HSA-445989
MAP kinase activation in TLR cascade	REACTOME	R-HSA-450294
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1	REACTOME	R-HSA-450321
activated TAK1 mediates p38 MAPK activation	REACTOME	R-HSA-450302
Toll Like Receptor 3 (TLR3) Cascade	REACTOME	R-HSA-168164
MyD88-independent TLR3/TLR4 cascade	REACTOME	R-HSA-166166
TRIF-mediated TLR3/TLR4 signaling	REACTOME	R-HSA-937061
Toll Like Receptor 5 (TLR5) Cascade	REACTOME	R-HSA-168176
Toll Like Receptor 7/8 (TLR7/8) Cascade	REACTOME	R-HSA-168181
MyD88 dependent cascade initiated on endosome	REACTOME	R-HSA-975155
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation	REACTOME	R-HSA-975138
Toll Like Receptor 9 (TLR9) Cascade	REACTOME	R-HSA-168138
Toll Like Receptor 4 (TLR4) Cascade	REACTOME	R-HSA-166016
Activated TLR4 signalling	REACTOME	R-HSA-166054
MyD88:Mal cascade initiated on plasma membrane	REACTOME	R-HSA-166058
Toll Like Receptor 2 (TLR2) Cascade	REACTOME	R-HSA-181438
Toll Like Receptor TLR1:TLR2 Cascade	REACTOME	R-HSA-168179
Toll Like Receptor TLR6:TLR2 Cascade	REACTOME	R-HSA-168188
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways	REACTOME	R-HSA-168643
NOD1/2 Signaling Pathway	REACTOME	R-HSA-168638
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-1 signaling	REACTOME	R-HSA-446652
Deubiquitination	REACTOME	R-HSA-5688426
Ovarian tumor domain proteases	REACTOME	R-HSA-5689896

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA165817016	Kidney Transplantation	Disease	ClinicalAnnotation	associated		PD	23175667
PA451578	tacrolimus	Chemical	ClinicalAnnotation	associated		PD	23175667

References

Pubmed ID	Year	Title	Citations
11385576	2001	Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.	1256
11385577	2001	A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.	1132
17435756	2007	Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.	632
12527755	2003	Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection.	627
17200669	2007	A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.	575
19898471	2010	Nod1 and Nod2 direct autophagy by recruiting ATG16L1 to the plasma membrane at the site of bacterial entry.	463
12514169	2003	Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn's disease.	445
19966812	2010	NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation.	377
19701189	2009	Activation of innate immune antiviral responses by Nod2.	279
16493424	2006	Signalling pathways and molecular interactions of NOD1 and NOD2.	242

Citation

Dessen P

NOD2 (nucleotide binding oligomerization domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43191/nod2