Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 64127
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (50693580: 50733076)     Exons: 17     NC_000016.10
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 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]
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: 115,283

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
CARD (26-122)
CARD (126-218)
NACHT. (293-618)

Motifs
ATG16L1-binding motif.(63-77)
Interpro:  IPR001315 IPR011029 IPR032675 IPR001611 IPR007111 IPR027417
Prosite:   PS50209 PS51450 PS50837

Pfam:  
PF00619 PF13516

DIP:  
41998
MINT:   151071
STRING:   ENSP00000300589;
Other Databases GeneCards:  NOD2;  Malacards:  NOD2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000187 activation of MAPK activi
ty
TAS biological_process
GO:0002367 cytokine production invol
ved in immune response
IMP biological_process
GO:0002374 cytokine secretion involv
ed in immune response
IMP biological_process
GO:0002606 positive regulation of de
ndritic cell antigen proc
essing and presentation
ISS biological_process
GO:0002830 positive regulation of ty
pe 2 immune response
IMP biological_process
GO:0003779 actin binding
IDA 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:0005524 ATP binding
IEA molecular_function
GO:0005737 cytoplasm
TAS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
IDA 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:0005829 cytosol
TAS cellular_component
GO:0005856 cytoskeleton
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006952 defense response
TAS biological_process
GO:0007254 JNK cascade
TAS biological_process
GO:0009595 detection of biotic stimu
lus
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0016045 detection of bacterium
IDA biological_process
GO:0016323 basolateral plasma membra
ne
IDA cellular_component
GO:0019899 enzyme binding
IPI molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0030277 maintenance of gastrointe
stinal epithelium
IMP biological_process
GO:0030544 Hsp70 protein binding
IPI molecular_function
GO:0031982 vesicle
IDA cellular_component
GO:0031982 vesicle
IDA cellular_component
GO:0032495 response to muramyl dipep
tide
IDA biological_process
GO:0032495 response to muramyl dipep
tide
IDA biological_process
GO:0032495 response to muramyl dipep
tide
IMP biological_process
GO:0032498 detection of muramyl dipe
ptide
IDA biological_process
GO:0032498 detection of muramyl dipe
ptide
IDA biological_process
GO:0032500 muramyl dipeptide binding
IDA molecular_function
GO:0032731 positive regulation of in
terleukin-1 beta producti
on
IMP biological_process
GO:0032733 positive regulation of in
terleukin-10 production
ISS biological_process
GO:0032740 positive regulation of in
terleukin-17 production
IMP biological_process
GO:0032755 positive regulation of in
terleukin-6 production
IDA biological_process
GO:0032757 positive regulation of in
terleukin-8 production
IMP biological_process
GO:0032760 positive regulation of tu
mor necrosis factor produ
ction
IDA biological_process
GO:0032760 positive regulation of tu
mor necrosis factor produ
ction
IMP biological_process
GO:0032874 positive regulation of st
ress-activated MAPK casca
de
IDA biological_process
GO:0035419 activation of MAPK activi
ty involved in innate imm
une response
ISS biological_process
GO:0035556 intracellular signal tran
sduction
IDA biological_process
GO:0042742 defense response to bacte
rium
IDA biological_process
GO:0042834 peptidoglycan binding
IDA molecular_function
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
IDA biological_process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
IDA biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
ISS biological_process
GO:0045087 innate immune response
NAS biological_process
GO:0045087 innate immune response
IDA biological_process
GO:0045747 positive regulation of No
tch signaling pathway
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046330 positive regulation of JN
K cascade
IDA biological_process
GO:0046645 positive regulation of ga
mma-delta T cell activati
on
ISS biological_process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
ISS biological_process
GO:0050700 CARD domain binding
IPI molecular_function
GO:0050718 positive regulation of in
terleukin-1 beta secretio
n
IDA biological_process
GO:0050727 regulation of inflammator
y response
IC biological_process
GO:0050871 positive regulation of B
cell activation
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IMP biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IMP biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
TAS biological_process
GO:0051259 protein oligomerization
TAS biological_process
GO:0051353 positive regulation of ox
idoreductase activity
ISS biological_process
GO:0051770 positive regulation of ni
tric-oxide synthase biosy
nthetic process
ISS biological_process
GO:0051879 Hsp90 protein binding
IDA molecular_function
GO:0060585 positive regulation of pr
ostaglandin-endoperoxide
synthase activity
ISS biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
ISS biological_process
GO:0070423 nucleotide-binding oligom
erization domain containi
ng signaling pathway
TAS biological_process
GO:0070431 nucleotide-binding oligom
erization domain containi
ng 2 signaling pathway
IDA biological_process
GO:0070431 nucleotide-binding oligom
erization domain containi
ng 2 signaling pathway
IDA biological_process
GO:0071225 cellular response to mura
myl dipeptide
IDA biological_process
GO:0071225 cellular response to mura
myl dipeptide
IMP biological_process
GO:1900017 positive regulation of cy
tokine production involve
d in inflammatory respons
e
IDA biological_process
GO:1901224 positive regulation of NI
K/NF-kappaB signaling
IMP biological_process
GO:2000110 negative regulation of ma
crophage apoptotic proces
s
ISS biological_process
GO:2000363 positive regulation of pr
ostaglandin-E synthase ac
tivity
ISS biological_process
GO:0008180 COP9 signalosome
IDA cellular_component
GO:0000166 nucleotide binding
IEA molecular_function
GO:0000187 activation of MAPK activi
ty
TAS biological_process
GO:0002367 cytokine production invol
ved in immune response
IMP biological_process
GO:0002374 cytokine secretion involv
ed in immune response
IMP biological_process
GO:0002376 immune system process
IEA biological_process
GO:0002606 positive regulation of de
ndritic cell antigen proc
essing and presentation
ISS biological_process
GO:0002830 positive regulation of ty
pe 2 immune response
IMP biological_process
GO:0003779 actin binding
IDA 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:0005524 ATP binding
IEA molecular_function
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
TAS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
IDA 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:0005829 cytosol
TAS cellular_component
GO:0005856 cytoskeleton
IDA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006952 defense response
TAS biological_process
GO:0007254 JNK cascade
TAS biological_process
GO:0009595 detection of biotic stimu
lus
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016045 detection of bacterium
IDA biological_process
GO:0016323 basolateral plasma membra
ne
IEA cellular_component
GO:0016323 basolateral plasma membra
ne
IDA cellular_component
GO:0019899 enzyme binding
IPI molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0030277 maintenance of gastrointe
stinal epithelium
IMP biological_process
GO:0030544 Hsp70 protein binding
IPI molecular_function
GO:0031982 vesicle
IDA cellular_component
GO:0031982 vesicle
IDA cellular_component
GO:0032495 response to muramyl dipep
tide
IEA biological_process
GO:0032495 response to muramyl dipep
tide
IDA biological_process
GO:0032495 response to muramyl dipep
tide
IDA biological_process
GO:0032495 response to muramyl dipep
tide
IMP biological_process
GO:0032498 detection of muramyl dipe
ptide
IDA biological_process
GO:0032498 detection of muramyl dipe
ptide
IDA biological_process
GO:0032500 muramyl dipeptide binding
IDA molecular_function
GO:0032731 positive regulation of in
terleukin-1 beta producti
on
IMP biological_process
GO:0032733 positive regulation of in
terleukin-10 production
ISS biological_process
GO:0032740 positive regulation of in
terleukin-17 production
IMP biological_process
GO:0032755 positive regulation of in
terleukin-6 production
IDA biological_process
GO:0032757 positive regulation of in
terleukin-8 production
IMP biological_process
GO:0032760 positive regulation of tu
mor necrosis factor produ
ction
IDA biological_process
GO:0032760 positive regulation of tu
mor necrosis factor produ
ction
IMP biological_process
GO:0032874 positive regulation of st
ress-activated MAPK casca
de
IDA biological_process
GO:0035419 activation of MAPK activi
ty involved in innate imm
une response
ISS biological_process
GO:0035556 intracellular signal tran
sduction
IDA biological_process
GO:0042742 defense response to bacte
rium
IDA biological_process
GO:0042834 peptidoglycan binding
IDA molecular_function
GO:0042981 regulation of apoptotic p
rocess
IEA biological_process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
IDA biological_process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
IDA biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
ISS biological_process
GO:0045087 innate immune response
IEA biological_process
GO:0045087 innate immune response
NAS biological_process
GO:0045087 innate immune response
IDA biological_process
GO:0045747 positive regulation of No
tch signaling pathway
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046330 positive regulation of JN
K cascade
IDA biological_process
GO:0046645 positive regulation of ga
mma-delta T cell activati
on
ISS biological_process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
ISS biological_process
GO:0050700 CARD domain binding
IPI molecular_function
GO:0050718 positive regulation of in
terleukin-1 beta secretio
n
IEA biological_process
GO:0050718 positive regulation of in
terleukin-1 beta secretio
n
IDA biological_process
GO:0050727 regulation of inflammator
y response
IC biological_process
GO:0050871 positive regulation of B
cell activation
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IMP biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IMP biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
TAS biological_process
GO:0051259 protein oligomerization
TAS biological_process
GO:0051353 positive regulation of ox
idoreductase activity
ISS biological_process
GO:0051770 positive regulation of ni
tric-oxide synthase biosy
nthetic process
ISS biological_process
GO:0051879 Hsp90 protein binding
IDA molecular_function
GO:0060585 positive regulation of pr
ostaglandin-endoperoxide
synthase activity
ISS biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
ISS biological_process
GO:0070423 nucleotide-binding oligom
erization domain containi
ng signaling pathway
TAS biological_process
GO:0070431 nucleotide-binding oligom
erization domain containi
ng 2 signaling pathway
IDA biological_process
GO:0070431 nucleotide-binding oligom
erization domain containi
ng 2 signaling pathway
IDA biological_process
GO:0071225 cellular response to mura
myl dipeptide
IDA biological_process
GO:0071225 cellular response to mura
myl dipeptide
IMP biological_process
GO:1900017 positive regulation of cy
tokine production involve
d in inflammatory respons
e
IDA biological_process
GO:1901224 positive regulation of NI
K/NF-kappaB signaling
IMP biological_process
GO:2000110 negative regulation of ma
crophage apoptotic proces
s
ISS biological_process
GO:2000363 positive regulation of pr
ostaglandin-E synthase ac
tivity
ISS biological_process
GO:0008180 COP9 signalosome
IDA cellular_component
GO:0000187 activation of MAPK activi
ty
TAS biological_process
GO:0002367 cytokine production invol
ved in immune response
IMP biological_process
GO:0002374 cytokine secretion involv
ed in immune response
IMP biological_process
GO:0002606 positive regulation of de
ndritic cell antigen proc
essing and presentation
ISS biological_process
GO:0002830 positive regulation of ty
pe 2 immune response
IMP biological_process
GO:0003779 actin binding
IDA 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:0005737 cytoplasm
TAS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
IDA 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:0005829 cytosol
TAS cellular_component
GO:0005856 cytoskeleton
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0006952 defense response
TAS biological_process
GO:0007254 JNK cascade
TAS biological_process
GO:0009595 detection of biotic stimu
lus
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0016045 detection of bacterium
IDA biological_process
GO:0016323 basolateral plasma membra
ne
IDA cellular_component
GO:0019899 enzyme binding
IPI molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0019901 protein kinase binding
IPI molecular_function
GO:0030277 maintenance of gastrointe
stinal epithelium
IMP biological_process
GO:0030544 Hsp70 protein binding
IPI molecular_function
GO:0031982 vesicle
IDA cellular_component
GO:0031982 vesicle
IDA cellular_component
GO:0032495 response to muramyl dipep
tide
IDA biological_process
GO:0032495 response to muramyl dipep
tide
IDA biological_process
GO:0032495 response to muramyl dipep
tide
IMP biological_process
GO:0032498 detection of muramyl dipe
ptide
IDA biological_process
GO:0032498 detection of muramyl dipe
ptide
IDA biological_process
GO:0032500 muramyl dipeptide binding
IDA molecular_function
GO:0032731 positive regulation of in
terleukin-1 beta producti
on
IMP biological_process
GO:0032733 positive regulation of in
terleukin-10 production
ISS biological_process
GO:0032740 positive regulation of in
terleukin-17 production
IMP biological_process
GO:0032755 positive regulation of in
terleukin-6 production
IDA biological_process
GO:0032757 positive regulation of in
terleukin-8 production
IMP biological_process
GO:0032760 positive regulation of tu
mor necrosis factor produ
ction
IDA biological_process
GO:0032760 positive regulation of tu
mor necrosis factor produ
ction
IMP biological_process
GO:0032874 positive regulation of st
ress-activated MAPK casca
de
IDA biological_process
GO:0035419 activation of MAPK activi
ty involved in innate imm
une response
ISS biological_process
GO:0035556 intracellular signal tran
sduction
IDA biological_process
GO:0042742 defense response to bacte
rium
IDA biological_process
GO:0042834 peptidoglycan binding
IDA molecular_function
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
IDA biological_process
GO:0043123 positive regulation of I-
kappaB kinase/NF-kappaB s
ignaling
IDA biological_process
GO:0043234 protein complex
IDA cellular_component
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
ISS biological_process
GO:0045087 innate immune response
NAS biological_process
GO:0045087 innate immune response
IDA biological_process
GO:0045747 positive regulation of No
tch signaling pathway
ISS biological_process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0046330 positive regulation of JN
K cascade
IDA biological_process
GO:0046645 positive regulation of ga
mma-delta T cell activati
on
ISS biological_process
GO:0050679 positive regulation of ep
ithelial cell proliferati
on
ISS biological_process
GO:0050700 CARD domain binding
IPI molecular_function
GO:0050718 positive regulation of in
terleukin-1 beta secretio
n
IDA biological_process
GO:0050727 regulation of inflammator
y response
IC biological_process
GO:0050871 positive regulation of B
cell activation
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IMP biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IDA biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IMP biological_process
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
TAS biological_process
GO:0051259 protein oligomerization
TAS biological_process
GO:0051353 positive regulation of ox
idoreductase activity
ISS biological_process
GO:0051770 positive regulation of ni
tric-oxide synthase biosy
nthetic process
ISS biological_process
GO:0051879 Hsp90 protein binding
IDA molecular_function
GO:0060585 positive regulation of pr
ostaglandin-endoperoxide
synthase activity
ISS biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
ISS biological_process
GO:0070423 nucleotide-binding oligom
erization domain containi
ng signaling pathway
TAS biological_process
GO:0070431 nucleotide-binding oligom
erization domain containi
ng 2 signaling pathway
IDA biological_process
GO:0070431 nucleotide-binding oligom
erization domain containi
ng 2 signaling pathway
IDA biological_process
GO:0071225 cellular response to mura
myl dipeptide
IDA biological_process
GO:0071225 cellular response to mura
myl dipeptide
IMP biological_process
GO:1900017 positive regulation of cy
tokine production involve
d in inflammatory respons
e
IDA biological_process
GO:1901224 positive regulation of NI
K/NF-kappaB signaling
IMP biological_process
GO:2000110 negative regulation of ma
crophage apoptotic proces
s
ISS biological_process
GO:2000363 positive regulation of pr
ostaglandin-E synthase ac
tivity
ISS biological_process
GO:0008180 COP9 signalosome
IDA cellular_component

KEGG pathways

hsa05152  Tuberculosis
hsa04621  NOD-like receptor signaling pathway
hsa04668  TNF signaling pathway
hsa05321  Inflammatory bowel disease
hsa05131  Shigellosis

Diseases

Associated diseases References
Acute lymphocytic leukemia PMID: 17724347
Asthma PMID: 16008671
Atherosclerosis PMID: 16315780
Atopic dermatitis KEGG: H01358
Behcet's disease PMID: 16134731
Blau syndrome KEGG: H00285
Celiac disease PMID: 19240061
Cholangitis PMID: 17100974
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Colitis PMID: 16804670
Crohn's disease KEGG: H00286, OMIM: 605956
Dermatitis PMID: 17620097
Endometriosis PMID: 23935397
HELLP Syndrome PMID: 18382655
Hematologic diseases PMID: 16424393
Hemochromatosis PMID: 19809335
Hypersensitivity PMID: 12704363
Inflammatory bowel disease KEGG: H01227
Multiple sclerosis PMID: 18563468
Endometriosis INFBASE23935397
Parkinson's disease PMID: 17174426
Periodontitis PMID: 15367194
Premature birth PMID: 19527514
Psoriasis OMIM: 605956
Rheumatoid arthritis PMID: 12595627
SAPHO syndrome PMID: 20032092
Sarcoidosis PMID: 16933467
Spondylarthritis PMID: 12115195
Systemic lupus erythematosus PMID: 12649405
Uveitis PMID: 19822951
Wegener granulomatosis PMID: 12563685
Yao syndrome OMIM: 605956

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23935397 Endometrio
sis

80 (40 patients
with endometri
osis, 40 withou
t endometriosis
)
TLR-2
TLR -9
NOD-1
NOD-2
and NOS
Show abstract