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NOD2 (nucleotide binding oligomerization domain containing 2)

Identity

Other namesACUG
BLAU
CARD15
CD
CLR16.3
IBD1
NLRC2
NOD2B
PSORAS1
HGNC (Hugo) NOD2
LocusID (NCBI) 64127
Atlas_Id 43191
Location 16q12.1  [Link to chromosome band 16q12]
Location_base_pair Starts at 50733261 and ends at 50766988 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NOD2 (16q12.1) / UPRT (Xq13.3)

Note

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NOD2   5331
Cards
Entrez_Gene (NCBI)NOD2  64127  nucleotide binding oligomerization domain containing 2
AliasesACUG; BLAU; CARD15; CD; 
CLR16.3; IBD1; NLRC2; NOD2B; PSORAS1
GeneCards (Weizmann)NOD2
Ensembl hg19 (Hinxton)ENSG00000167207 [Gene_View]  chr16:50733261-50766988 [Contig_View]  NOD2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000167207 [Gene_View]  chr16:50733261-50766988 [Contig_View]  NOD2 [Vega]
ICGC DataPortalENSG00000167207
TCGA cBioPortalNOD2
AceView (NCBI)NOD2
Genatlas (Paris)NOD2
WikiGenes64127
SOURCE (Princeton)NOD2
Genomic and cartography
GoldenPath hg19 (UCSC)NOD2  -     chr16:50733261-50766988 +  16q12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NOD2  -     16q12.1   [Description]    (hg38-Dec_2013)
EnsemblNOD2 - 16q12.1 [CytoView hg19]  NOD2 - 16q12.1 [CytoView hg38]
Mapping of homologs : NCBINOD2 [Mapview hg19]  NOD2 [Mapview hg38]
OMIM186580   266600   605956   607507   609464   
Gene and transcription
Genbank (Entrez)AF178930 AK298099 AY187233 AY187234 AY187235
RefSeq transcript (Entrez)NM_001293557 NM_022162
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_007508 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)NOD2
Cluster EST : UnigeneHs.592072 [ NCBI ]
CGAP (NCI)Hs.592072
Alternative Splicing GalleryENSG00000167207
Gene ExpressionNOD2 [ NCBI-GEO ]   NOD2 [ EBI - ARRAY_EXPRESS ]   NOD2 [ SEEK ]   NOD2 [ MEM ]
Gene Expression Viewer (FireBrowse)NOD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64127
GTEX Portal (Tissue expression)NOD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HC29 (Uniprot)
NextProtQ9HC29  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HC29
Splice isoforms : SwissVarQ9HC29 (Swissvar)
PhosPhoSitePlusQ9HC29
Domaine pattern : Prosite (Expaxy)CARD (PS50209)    LRR (PS51450)    NACHT (PS50837)   
Domains : Interpro (EBI)CARD    DEATH-like_dom    L_dom-like    Leu-rich_rpt    NACHT_NTPase    P-loop_NTPase   
Domain families : Pfam (Sanger)CARD (PF00619)   
Domain families : Pfam (NCBI)pfam00619   
Domain families : Smart (EMBL)CARD (SM00114)  
DMDM Disease mutations64127
Blocks (Seattle)NOD2
SuperfamilyQ9HC29
Human Protein AtlasENSG00000167207
Peptide AtlasQ9HC29
HPRD05810
IPIIPI00005559   IPI00759531   IPI00910731   IPI00980493   IPI00977404   IPI00978366   
Protein Interaction databases
DIP (DOE-UCLA)Q9HC29
IntAct (EBI)Q9HC29
FunCoupENSG00000167207
BioGRIDNOD2
STRING (EMBL)NOD2
ZODIACNOD2
Ontologies - Pathways
QuickGOQ9HC29
Ontology : AmiGOactivation of MAPK activity  cytokine production involved in immune response  cytokine secretion involved in immune response  positive regulation of dendritic cell antigen processing and presentation  positive regulation of type 2 immune response  actin binding  protein binding  ATP binding  cytoplasm  cytoplasm  cytosol  cytosol  cytoskeleton  plasma membrane  defense response  JNK cascade  COP9 signalosome  detection of biotic stimulus  cell surface  detection of bacterium  basolateral plasma membrane  enzyme binding  protein kinase binding  maintenance of gastrointestinal epithelium  Hsp70 protein binding  vesicle  response to muramyl dipeptide  response to muramyl dipeptide  detection of muramyl dipeptide  muramyl dipeptide binding  positive regulation of interleukin-1 beta production  positive regulation of interleukin-10 production  positive regulation of interleukin-17 production  positive regulation of interleukin-6 production  positive regulation of interleukin-8 production  positive regulation of tumor necrosis factor production  positive regulation of tumor necrosis factor production  positive regulation of stress-activated MAPK cascade  activation of MAPK activity involved in innate immune response  intracellular signal transduction  defense response to bacterium  peptidoglycan binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  protein complex  positive regulation of phosphatidylinositol 3-kinase activity  innate immune response  innate immune response  positive regulation of Notch signaling pathway  positive regulation of transcription from RNA polymerase II promoter  positive regulation of JNK cascade  positive regulation of gamma-delta T cell activation  positive regulation of epithelial cell proliferation  CARD domain binding  positive regulation of interleukin-1 beta secretion  regulation of inflammatory response  positive regulation of B cell activation  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  protein oligomerization  positive regulation of oxidoreductase activity  positive regulation of nitric-oxide synthase biosynthetic process  Hsp90 protein binding  positive regulation of prostaglandin-endoperoxide synthase activity  positive regulation of ERK1 and ERK2 cascade  nucleotide-binding oligomerization domain containing signaling pathway  nucleotide-binding oligomerization domain containing 2 signaling pathway  cellular response to muramyl dipeptide  cellular response to muramyl dipeptide  positive regulation of cytokine production involved in inflammatory response  positive regulation of NIK/NF-kappaB signaling  negative regulation of macrophage apoptotic process  positive regulation of prostaglandin-E synthase activity  
Ontology : EGO-EBIactivation of MAPK activity  cytokine production involved in immune response  cytokine secretion involved in immune response  positive regulation of dendritic cell antigen processing and presentation  positive regulation of type 2 immune response  actin binding  protein binding  ATP binding  cytoplasm  cytoplasm  cytosol  cytosol  cytoskeleton  plasma membrane  defense response  JNK cascade  COP9 signalosome  detection of biotic stimulus  cell surface  detection of bacterium  basolateral plasma membrane  enzyme binding  protein kinase binding  maintenance of gastrointestinal epithelium  Hsp70 protein binding  vesicle  response to muramyl dipeptide  response to muramyl dipeptide  detection of muramyl dipeptide  muramyl dipeptide binding  positive regulation of interleukin-1 beta production  positive regulation of interleukin-10 production  positive regulation of interleukin-17 production  positive regulation of interleukin-6 production  positive regulation of interleukin-8 production  positive regulation of tumor necrosis factor production  positive regulation of tumor necrosis factor production  positive regulation of stress-activated MAPK cascade  activation of MAPK activity involved in innate immune response  intracellular signal transduction  defense response to bacterium  peptidoglycan binding  positive regulation of I-kappaB kinase/NF-kappaB signaling  protein complex  positive regulation of phosphatidylinositol 3-kinase activity  innate immune response  innate immune response  positive regulation of Notch signaling pathway  positive regulation of transcription from RNA polymerase II promoter  positive regulation of JNK cascade  positive regulation of gamma-delta T cell activation  positive regulation of epithelial cell proliferation  CARD domain binding  positive regulation of interleukin-1 beta secretion  regulation of inflammatory response  positive regulation of B cell activation  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  positive regulation of NF-kappaB transcription factor activity  protein oligomerization  positive regulation of oxidoreductase activity  positive regulation of nitric-oxide synthase biosynthetic process  Hsp90 protein binding  positive regulation of prostaglandin-endoperoxide synthase activity  positive regulation of ERK1 and ERK2 cascade  nucleotide-binding oligomerization domain containing signaling pathway  nucleotide-binding oligomerization domain containing 2 signaling pathway  cellular response to muramyl dipeptide  cellular response to muramyl dipeptide  positive regulation of cytokine production involved in inflammatory response  positive regulation of NIK/NF-kappaB signaling  negative regulation of macrophage apoptotic process  positive regulation of prostaglandin-E synthase activity  
Pathways : KEGGNOD-like receptor signaling pathway    TNF signaling pathway    Shigellosis    Tuberculosis    Inflammatory bowel disease (IBD)   
NDEx Network
Atlas of Cancer Signalling NetworkNOD2
Wikipedia pathwaysNOD2
Orthology - Evolution
OrthoDB64127
GeneTree (enSembl)ENSG00000167207
Phylogenetic Trees/Animal Genes : TreeFamNOD2
Homologs : HomoloGeneNOD2
Homology/Alignments : Family Browser (UCSC)NOD2
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerNOD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NOD2
dbVarNOD2
ClinVarNOD2
1000_GenomesNOD2 
Exome Variant ServerNOD2
ExAC (Exome Aggregation Consortium)NOD2 (select the gene name)
Genetic variants : HAPMAP64127
Genomic Variants (DGV)NOD2 [DGVbeta]
Mutations
ICGC Data PortalNOD2 
TCGA Data PortalNOD2 
Broad Tumor PortalNOD2
OASIS PortalNOD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNOD2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)TBsLVD Tuberculosis susceptibility Locus Variation Database
BioMutasearch NOD2
DgiDB (Drug Gene Interaction Database)NOD2
DoCM (Curated mutations)NOD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NOD2 (select a term)
intoGenNOD2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:50733261-50766988  ENSG00000167207
CONAN: Copy Number AnalysisNOD2 
Mutations and Diseases : HGMDNOD2
OMIM186580    266600    605956    607507    609464   
MedgenNOD2
Genetic Testing Registry NOD2
NextProtQ9HC29 [Medical]
TSGene64127
GENETestsNOD2
Huge Navigator NOD2 [HugePedia]
snp3D : Map Gene to Disease64127
BioCentury BCIQNOD2
ClinGenNOD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64127
Chemical/Pharm GKB GenePA26074
Clinical trialNOD2
Miscellaneous
canSAR (ICR)NOD2 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNOD2
EVEXNOD2
GoPubMedNOD2
iHOPNOD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 9 19:26:27 CEST 2016

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