• Gene id: 64127

Gene Summary

• Gene Symbol: NOD2   Gene   UCSC   Ensembl
• Aliases: ACUG, BLAU, BLAUS, CARD15, CD, CLR16.3, IBD1, NLRC2, NOD2B, PSORAS1, YAOS
• Gene name: nucleotide binding oligomerization domain containing 2
• Alternate names: nucleotide-binding oligomerization domain-containing protein 2, NLR family, CARD domain containing 2, NOD-like receptor C2, caspase recruitment domain family, member 15, caspase recruitment domain protein 15, caspase recruitment domain-containing protein 15, in,
• Gene location: 16q12.1 (57121860: 57489195)     Exons: 19     NC_000023.11
• Gene summary(Entrez): 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 res
• OMIM: 605956

Protein Summary

• Protein general information: Q9HC29  
  • Name: Nucleotide binding oligomerization domain containing protein 2 (Caspase recruitment domain containing protein 15) (Inflammatory bowel disease protein 1)
  • Length: 1040  
  • Mass: 115283
  • Tissue specificity: Expressed in intestinal mucosa, mainly in Paneth cells and, at lower extent, in the glandular epithelium. {ECO
• Sequence:

  MGEEGGSASHDEEERASVLLGHSPGCEMCSQEAFQAQRSQLVELLVSGSLEGFESVLDWLLSWEVLSWEDYEGFH
  LLGQPLSHLARRLLDTVWNKGTWACQKLIAAAQEAQADSQSPKLHGCWDPHSLHPARDLQSHRPAIVRRLHSHVE
  NMLDLAWERGFVSQYECDEIRLPIFTPSQRARRLLDLATVKANGLAAFLLQHVQELPVPLALPLEAATCKKYMAK
  LRTTVSAQSRFLSTYDGAETLCLEDIYTENVLEVWADVGMAGPPQKSPATLGLEELFSTPGHLNDDADTVLVVGE
  AGSGKSTLLQRLHLLWAAGQDFQEFLFVFPFSCRQLQCMAKPLSVRTLLFEHCCWPDVGQEDIFQLLLDHPDRVL
  LTFDGFDEFKFRFTDRERHCSPTDPTSVQTLLFNLLQGNLLKNARKVVTSRPAAVSAFLRKYIRTEFNLKGFSEQ
  GIELYLRKRHHEPGVADRLIRLLQETSALHGLCHLPVFSWMVSKCHQELLLQEGGSPKTTTDMYLLILQHFLLHA
  TPPDSASQGLGPSLLRGRLPTLLHLGRLALWGLGMCCYVFSAQQLQAAQVSPDDISLGFLVRAKGVVPGSTAPLE
  FLHITFQCFFAAFYLALSADVPPALLRHLFNCGRPGNSPMARLLPTMCIQASEGKDSSVAALLQKAEPHNLQITA
  AFLAGLLSREHWGLLAECQTSEKALLRRQACARWCLARSLRKHFHSIPPAAPGEAKSVHAMPGFIWLIRSLYEMQ
  EERLARKAARGLNVGHLKLTFCSVGPTECAALAFVLQHLRRPVALQLDYNSVGDIGVEQLLPCLGVCKALYLRDN
  NISDRGICKLIECALHCEQLQKLALFNNKLTDGCAHSMAKLLACRQNFLALRLGNNYITAAGAQVLAEGLRGNTS
  LQFLGFWGNRVGDEGAQALAEALGDHQSLRWLSLVGNNIGSVGAQALALMLAKNVMLEELCLEENHLQDEGVCSL
  AEGLKKNSSLKILKLSNNCITYLGAEALLQALERNDTILEVWLRGNTFSLEEVDKLGCRDTRLLL

• Structural information:
  • Protein Domains: (26..12-)
    (/note="CARD-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00046-)
    (126..21-)
    (/note="CARD-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00046-)
    (293..61-)
    (/note="NACHT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00136"-)
  • Interpro: IPR001315  IPR011029  IPR001611  IPR032675  IPR007111   IPR041267  IPR041075  IPR027417  
  • Prosite: PS50209 PS51450 PS50837
  • DIP: 41998
  • STRING: ENSP00000300589
• Other Databases: GeneCards:  NOD2  Malacards:  NOD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006952	defense response	TAS	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0035556	intracellular signal transduction	IDA	biological process
GO:0042742	defense response to bacterium	IDA	biological process
GO:0032500	muramyl dipeptide binding	IDA	molecular function
GO:0016045	detection of bacterium	IDA	biological process
GO:0009595	detection of biotic stimulus	TAS	biological process
GO:0042834	peptidoglycan binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0031982	vesicle	IDA	cellular component
GO:0032498	detection of muramyl dipeptide	IDA	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0050718	positive regulation of interleukin-1 beta secretion	IDA	biological process
GO:0032495	response to muramyl dipeptide	IDA	biological process
GO:1900017	positive regulation of cytokine production involved in inflammatory response	IDA	biological process
GO:0002374	cytokine secretion involved in immune response	IMP	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0042742	defense response to bacterium	IBA	biological process
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0032495	response to muramyl dipeptide	IBA	biological process
GO:0045335	phagocytic vesicle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0071225	cellular response to muramyl dipeptide	IDA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0045087	innate immune response	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0002221	pattern recognition receptor signaling pathway	IDA	biological process
GO:0038187	pattern recognition receptor activity	IDA	molecular function
GO:0070431	nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0031982	vesicle	IDA	cellular component
GO:0005856	cytoskeleton	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0071222	cellular response to lipopolysaccharide	IMP	biological process
GO:0071225	cellular response to muramyl dipeptide	IMP	biological process
GO:0046658	anchored component of plasma membrane	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0032874	positive regulation of stress-activated MAPK cascade	IDA	biological process
GO:0070431	nucleotide-binding oligomerization domain containing 2 signaling pathway	IDA	biological process
GO:0046330	positive regulation of JNK cascade	IDA	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IDA	biological process
GO:0032498	detection of muramyl dipeptide	IDA	biological process
GO:0070498	interleukin-1-mediated signaling pathway	TAS	biological process
GO:0000187	activation of MAPK activity	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007254	JNK cascade	TAS	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	TAS	biological process
GO:0070423	nucleotide-binding oligomerization domain containing signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002732	positive regulation of dendritic cell cytokine production	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0032495	response to muramyl dipeptide	IEA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0032495	response to muramyl dipeptide	IEA	biological process
GO:0032500	muramyl dipeptide binding	IEA	molecular function
GO:0071224	cellular response to peptidoglycan	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032755	positive regulation of interleukin-6 production	IDA	biological process
GO:0050727	regulation of inflammatory response	IC	biological process
GO:0032495	response to muramyl dipeptide	IDA	biological process
GO:0050871	positive regulation of B cell activation	IDA	biological process
GO:0002606	positive regulation of dendritic cell antigen processing and presentation	ISS	biological process
GO:0032733	positive regulation of interleukin-10 production	ISS	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	ISS	biological process
GO:0045747	positive regulation of Notch signaling pathway	ISS	biological process
GO:0050679	positive regulation of epithelial cell proliferation	ISS	biological process
GO:2000363	positive regulation of prostaglandin-E synthase activity	ISS	biological process
GO:0002830	positive regulation of type 2 immune response	IMP	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IMP	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IMP	biological process
GO:0046645	positive regulation of gamma-delta T cell activation	ISS	biological process
GO:0051353	positive regulation of oxidoreductase activity	ISS	biological process
GO:0051770	positive regulation of nitric-oxide synthase biosynthetic process	ISS	biological process
GO:0060585	positive regulation of prostaglandin-endoperoxide synthase activity	ISS	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	ISS	biological process
GO:2000110	negative regulation of macrophage apoptotic process	ISS	biological process
GO:0043406	positive regulation of MAP kinase activity	ISS	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0003779	actin binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0030277	maintenance of gastrointestinal epithelium	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030544	Hsp70 protein binding	IPI	molecular function
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IMP	biological process
GO:0032740	positive regulation of interleukin-17 production	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050700	CARD domain binding	IPI	molecular function
GO:0045087	innate immune response	NAS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0071225	cellular response to muramyl dipeptide	IMP	biological process
GO:0002367	cytokine production involved in immune response	IMP	biological process
GO:0032757	positive regulation of interleukin-8 production	IMP	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0030544	Hsp70 protein binding	IPI	molecular function
GO:1902523	positive regulation of protein K63-linked ubiquitination	IMP	biological process
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0032495	response to muramyl dipeptide	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway
hsa05152	Tuberculosis
hsa04668	TNF signaling pathway
hsa05321	Inflammatory bowel disease

Diseases

Associated diseases	References
Atopic dermatitis	KEGG:H01358
Crohn disease	KEGG:H00286
Inflammatory bowel disease	KEGG:H01227
Blau syndrome	KEGG:H00285
Sarcoidosis	KEGG:H01309
Atopic dermatitis	KEGG:H01358
Crohn disease	KEGG:H00286
Inflammatory bowel disease	KEGG:H01227
Blau syndrome	KEGG:H00285
Sarcoidosis	KEGG:H01309
Blau syndrome	PMID:15812565
Blau syndrome	PMID:19116920
Blau syndrome	PMID:11528384
Blau syndrome	PMID:19479837
Gastrointestinal carcinoma	PMID:20230816
lung cancer	PMID:16267612
Behcet's disease	PMID:19748964
pulmonary sarcoidosis	PMID:19679608
Breast cancer	PMID:16267612
Multiple sclerosis	PMID:20595247
Ovarian cancer	PMID:20223031
Larynx cancer	PMID:20223031
Bronchiolitis obliterans	PMID:18158963
Asthma	PMID:16008671
Chronic obstructive pulmonary disease	PMID:21943069
Coronary artery disease	PMID:21565239
Intestinal disease	PMID:20646002
Crohn's disease	PMID:11385576
Systemic lupus erythematosus	PMID:21886831
Systemic lupus erythematosus	PMID:16642031
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq