NOD2_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
NOD2
, CARD15, IBD1
Protein names and data:
NOD2_HUMAN
, Nucleotide-binding oligomerization domain-containing protein 2
, Caspase recruitment domain-containing protein 15; Inflammatory bowel disease protein 1
Lenght: 1040 a.a.
Mass: 115283 Da
fasta formatted sequence
Function:
Recognizes muramyl dipeptide (MDP) constituents of bacterial peptidoglycans and plays a key role in gastrointestinal immunity: upon stimulation, binds the proximal adapter receptor- interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3 and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling, leading to activate the transcription of hundreds of genes involved in immune response.
Disease:
( OMIM:
186580
266600
605956
609464
)
Blau syndrome (BS) [MIM:186580]: Rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash. Note=The disease is caused by mutations affecting the gene represented in this entry. Inflammatory bowel disease 1 (IBD1) [MIM:266600]: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Sarcoidosis early-onset (EOS) [MIM:609464]: A form of sarcoidosis manifesting in children younger than 4 years of age. Sarcoidosis is an idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. Early-onset sarcoidosis is quite rare and has a distinct triad of skin, joint and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, early-onset sarcoidosis is progressive and in many cases causes severe complications, such as blindness, joint destruction and visceral involvement. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm.
Tissue specificity:
Monocytes-specific.
Genetic variants
81 - 81
L -> V (in dbSNP:rs34936594). VAR_036871
34936594
140 - 140
A -> T (associated with Crohn disease and ulcerative colitis; dbSNP:rs34684955). VAR_012665
34684955
157 - 157
W -> R (associated with Crohn disease). VAR_012666
189 - 189
T -> M (in dbSNP:rs61755182). VAR_012667
61755182
235 - 235
R -> C (associated with Crohn disease). VAR_012668
248 - 248
L -> R (associated with Crohn disease; dbSNP:rs104895423). VAR_012669
104895423
268 - 268
P -> S (in dbSNP:rs2066842). VAR_012670
2066842
289 - 289
N -> S (in dbSNP:rs5743271). VAR_012671
5743271
291 - 291
D -> N (associated with Crohn disease). VAR_012672
294 - 294
T -> S (associated with Crohn disease). VAR_012673
301 - 301
A -> V (associated with Crohn disease). VAR_012674
311 - 311
R -> W (associated with Crohn disease and ulcerative colitis). VAR_012675
334 - 334
R -> Q (in BS). VAR_012676
334 - 334
R -> W (in BS). VAR_012677
348 - 348
L -> V (associated with Crohn disease). VAR_012678
352 - 352
H -> R (associated with Crohn disease; dbSNP:rs5743272). VAR_012679
5743272
373 - 373
R -> C (associated with Crohn disease). VAR_012680
382 - 382
D -> E (in EOS). VAR_023822
383 - 383
E -> K (in BS). VAR_023823
414 - 414
N -> S (associated with Crohn disease). VAR_012681
431 - 431
S -> L (associated with Crohn disease; dbSNP:rs104895431). VAR_012682
104895431
432 - 432
A -> V (associated with Crohn disease; dbSNP:rs2076754). VAR_012683
2076754
441 - 441
E -> K (associated with Crohn disease). VAR_012684
469 - 469
L -> F (in BS). VAR_012685
471 - 471
R -> C (in dbSNP:rs1078327). VAR_036872
1078327
496 - 496
H -> L (in EOS). VAR_023824
605 - 605
T -> N (in BS). VAR_065228
612 - 612
A -> T (in EOS; associated with Crohn disease). VAR_012686
612 - 612
A -> V (associated with Crohn disease). VAR_012687
684 - 684
R -> W (associated with Crohn disease; dbSNP:rs5743276). VAR_012688
5743276
702 - 702
R -> W (associated with Crohn disease; dbSNP:rs2066844). VAR_012689
2066844
703 - 703
R -> C (associated with Crohn disease and ulcerative colitis; dbSNP:rs5743277). VAR_012690
5743277
713 - 713
R -> C (associated with Crohn disease). VAR_012691
725 - 725
A -> G (associated with Crohn disease; dbSNP:rs5743278). VAR_012692
5743278
755 - 755
A -> V (associated with Crohn disease and ulcerative colitis; dbSNP:rs61747625). VAR_012693
61747625
758 - 758
A -> V (associated with Crohn disease). VAR_012694
778 - 778
E -> K (associated with Crohn disease). VAR_012695
790 - 790
R -> Q (in dbSNP:rs5743279). VAR_024402
5743279
793 - 793
V -> M (associated with Crohn disease; dbSNP:rs104895444). VAR_012696
104895444
843 - 843
E -> K (associated with Crohn disease). VAR_012697
853 - 853
N -> S (associated with Crohn disease). VAR_012698
863 - 863
M -> V (associated with Crohn disease; dbSNP:rs104895447). VAR_012699
104895447
885 - 885
A -> T (associated with ulcerative colitis). VAR_012700
908 - 908
G -> R (associated with Crohn disease; dbSNP:rs2066845). VAR_012701
2066845
918 - 918
A -> D (associated with Crohn disease; dbSNP:rs104895452). VAR_012702
104895452
924 - 924
G -> D (associated with Crohn disease). VAR_012703
955 - 955
V -> I (in dbSNP:rs5743291). VAR_012704
5743291
Database cross-references
UniProt:
Q9HC29
Ensembl:
ENST00000300589
MIM:
186580
MIM:
266600
MIM:
605956
MIM:
609464
neXtProt:
NX_Q9HC29
Antibodypedia:
Q9HC29
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.