NOD2 (nucleotide binding oligomerization domain containing 2)

2006-10-01  

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

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167207ENST00000300589Q9HC29
ENSG00000167207ENST00000524712J3QL80
ENSG00000167207ENST00000527052J3QL80
ENSG00000167207ENST00000527070E9PLF7
ENSG00000167207ENST00000529633J3QL80
ENSG00000167207ENST00000531674E9PK30
ENSG00000167207ENST00000534057H0YF53
ENSG00000167207ENST00000534067J3QL80
ENSG00000167207ENST00000641284A0A286YF65
ENSG00000167207ENST00000646677A0A286YF65
ENSG00000167207ENST00000647318Q9HC29

Expression (GTEx)

0
5
10
15
20
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

PathwaySourceExternal ID
ShigellosisKEGGhsa05131
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
TNF signaling pathwayKEGGhsa04668
TNF signaling pathwayKEGGko04668
Inflammatory bowel disease (IBD)KEGGhsa05321
Inflammatory bowel disease (IBD)KEGGko05321
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Toll-Like Receptors CascadesREACTOMER-HSA-168898
Toll Like Receptor 10 (TLR10) CascadeREACTOMER-HSA-168142
MyD88 cascade initiated on plasma membraneREACTOMER-HSA-975871
TAK1 activates NFkB by phosphorylation and activation of IKKs complexREACTOMER-HSA-445989
MAP kinase activation in TLR cascadeREACTOMER-HSA-450294
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1REACTOMER-HSA-450321
activated TAK1 mediates p38 MAPK activationREACTOMER-HSA-450302
Toll Like Receptor 3 (TLR3) CascadeREACTOMER-HSA-168164
MyD88-independent TLR3/TLR4 cascadeREACTOMER-HSA-166166
TRIF-mediated TLR3/TLR4 signalingREACTOMER-HSA-937061
Toll Like Receptor 5 (TLR5) CascadeREACTOMER-HSA-168176
Toll Like Receptor 7/8 (TLR7/8) CascadeREACTOMER-HSA-168181
MyD88 dependent cascade initiated on endosomeREACTOMER-HSA-975155
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activationREACTOMER-HSA-975138
Toll Like Receptor 9 (TLR9) CascadeREACTOMER-HSA-168138
Toll Like Receptor 4 (TLR4) CascadeREACTOMER-HSA-166016
Activated TLR4 signallingREACTOMER-HSA-166054
MyD88:Mal cascade initiated on plasma membraneREACTOMER-HSA-166058
Toll Like Receptor 2 (TLR2) CascadeREACTOMER-HSA-181438
Toll Like Receptor TLR1:TLR2 CascadeREACTOMER-HSA-168179
Toll Like Receptor TLR6:TLR2 CascadeREACTOMER-HSA-168188
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysREACTOMER-HSA-168643
NOD1/2 Signaling PathwayREACTOMER-HSA-168638
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-1 signalingREACTOMER-HSA-446652
DeubiquitinationREACTOMER-HSA-5688426
Ovarian tumor domain proteasesREACTOMER-HSA-5689896

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165817016Kidney TransplantationDiseaseClinicalAnnotationassociatedPD23175667
PA451578tacrolimusChemicalClinicalAnnotationassociatedPD23175667

References

Pubmed IDYearTitleCitations
379102762024E3 ligase SOCS3 regulates NOD2 expression by ubiquitin proteasome system in lung cancer progression.0
383480332024The expanding clinical spectrum of autoinflammatory diseases with NOD2 variants: a case series and literature review.0
383959602024Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome.0
379102762024E3 ligase SOCS3 regulates NOD2 expression by ubiquitin proteasome system in lung cancer progression.0
383480332024The expanding clinical spectrum of autoinflammatory diseases with NOD2 variants: a case series and literature review.0
383959602024Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome.0
365443562023Association of NOD1 and NOD2 Polymorphisms With Susceptibility to Subacute Sclerosing Panencephalitis.0
367957152023Variants of NOD2 in Leishmania guyanensis-infected patients with cutaneous leishmaniasis and correlations with plasma circulating pro-inflammatory cytokines.0
368776802023Association of the rs2111234, rs3135499, rs8057341 polymorphisms in the NOD2 gene with leprosy: A case-control study in the Norte de Santander, Colombia population.1
369722922023Allele-dependent interaction of LRRK2 and NOD2 in leprosy.2
371569992023Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.28
372297672023NOD2 Polymorphisms May Direct a Crohn Disease Phenotype in Patients With Very Early-Onset Inflammatory Bowel Disease.0
372490502023Influence of NOD2 risk variants on hepatic encephalopathy and association with inflammation, bacterial translocation and immune activation.0
373127432023Genetic Polymorphisms of NOD2 and ATG16L1 in Different Types of Digestive Tract Inflammation.0
373219122023Presence of NOD2 mutations is not associated with hepatic or systemic hemodynamic abnormalities of cirrhosis.0

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