NOD2 - nucleotide binding oligomerization domain containing 2 Gene
Also Known as CD; ACUG; BLAU; IBD1; YAOS; BLAUS; NLRC2; NOD2B; CARD15; CLR16.3; PSORAS1
Species: Homo sapiens
About NOD2
This gene has 17 transcripts (splice variants), 167 orthologues, 20 paralogues and is associated with 9 phenotypes. Broad expression in bone marrow (RPKM 3.3), appendix (RPKM 2.5) and 16 other tissues.
Summary
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]
NOD2 Products (18)
| mRNA | Protein | Name |
|---|---|---|
| XM_047434453.1 | XP_047290409.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform X2 |
| XM_006721242.5 | XP_006721305.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform X1 |
| XM_047434454.1 | XP_047290410.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform X2 |
| NM_001293557.2 | NP_001280486.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform 2 |
| NM_022162.3 | NP_071445.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform 1 |
| NR_163434.1 | ||
| XM_017023537.2 | XP_016879026.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform X3 |
| XM_011523260.4 | XP_011521562.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform X6 |
| XR_007064895.1 | ||
| NM_001370466.1 | NP_001357395.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform 2 |
| XM_047434457.1 | XP_047290413.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform X8 |
| XM_047434452.1 | XP_047290408.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform X2 |
| XM_006721243.5 | XP_006721306.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform X5 |
| XR_007064894.1 | ||
| XM_011523261.3 | XP_011521563.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform X4 |
| XM_047434456.1 | XP_047290412.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform X7 |
| XM_047434455.1 | XP_047290411.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform X6 |
| XM_017023536.2 | XP_016879025.1 | nucleotide-binding oligomerization domain-containing protein 2 isoform X3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables CARD domain binding |
IPI
IPI: Inferred from physical interaction
|
11087742 | GOA |
| enables Hsp70 protein binding |
IPI
IPI: Inferred from physical interaction
|
24790089 | GOA |
| enables Hsp90 protein binding |
IDA
IDA: Inferred from direct assay
|
24790089 | GOA |
| enables actin binding |
IDA
IDA: Inferred from direct assay
|
24790089 | GOA |
| enables enzyme binding |
IPI
IPI: Inferred from physical interaction
|
15753091 | GOA |
| enables muramyl dipeptide binding |
IDA
IDA: Inferred from direct assay
|
12871942 | GOA |
| enables pattern recognition receptor activity |
IDA
IDA: Inferred from direct assay
|
12871942 | GOA |
| enables peptidoglycan binding |
IDA
IDA: Inferred from direct assay
|
15998797 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11472070 | GOA |
| enables protein kinase binding |
IPI
IPI: Inferred from physical interaction
|
15075345 | GOA |
| enables protein-containing complex binding |
IPI
IPI: Inferred from physical interaction
|
17337451 | GOA |
| enables ubiquitin binding |
IDA
IDA: Inferred from direct assay
|
23300079 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in basolateral plasma membrane |
IDA
IDA: Inferred from direct assay
|
16203728 | GOA |
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
16714539 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
21887730 | GOA |
| located in cytoskeleton |
IDA
IDA: Inferred from direct assay
|
21887730 | GOA |
| is active in cytosol |
IDA
IDA: Inferred from direct assay
|
19701189 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
14570728 | GOA |
| is active in extrinsic component of plasma membrane |
IDA
IDA: Inferred from direct assay
|
17355968 | GOA |
| located in phagocytic vesicle |
IDA
IDA: Inferred from direct assay
|
31649195 | GOA |
| is active in plasma membrane |
IDA
IDA: Inferred from direct assay
|
17355968 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15998797 | GOA |
| located in plasma membrane |
IMP
IMP: Inferred from mutant phenotype
|
31649195 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
21887730 | GOA |
| located in vesicle |
IDA
IDA: Inferred from direct assay
|
15998797 | GOA |
NOD2 Protein Structure
CARD: Caspase recruitment domain (31 - 120)
CARD: Caspase recruitment domain (133 - 205)
NACHT: NACHT domain (293 - 462)
LRR_6: Leucine Rich repeat (898 - 921)
LRR_6: Leucine Rich repeat (927 - 948)
LRR_6: Leucine Rich repeat (957 - 977)
LRR_6: Leucine Rich repeat (982 - 1004)
- 0
- 200
- 400
- 600
- 800
- 1040 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
nucleotide-binding oligomerization domain-containing protein 2 |
|
|
NOD2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
NOD2 | Q9HC29 | GALNT2 | Homo sapiens | Q10471 | 21699783 | |
|
Intra
|
NOD2 | Q9HC29 | GALNT2 | Homo sapiens | Q10471 | 21699783 | |
|
Intra
|
NOD2 | Q9HC29 | FIS1 | Homo sapiens | Q9Y3D6 | 21699783 | |
|
Intra
|
NOD2 | Q9HC29 | FIS1 | Homo sapiens | Q9Y3D6 | 21699783 | |
|
Intra
|
NOD2 | Q9HC29 | VIM | Homo sapiens | P08670 | 22684479 | |
|
Intra
|
NOD2 | Q9HC29 | VIM | Homo sapiens | P08670 | 21699783 | |
|
Intra
|
NOD2 | Q9HC29 | VIM | Homo sapiens | P08670 | 35273242 | |
|
Intra
|
NOD2 | Q9HC29 | VIM | Homo sapiens | P08670 | 21699783 | |
|
Intra
|
NOD2 | Q9HC29 | VIM | Homo sapiens | P08670 | 22684479 | |
|
Intra
|
NOD2 | Q9HC29 | VIM | Homo sapiens | P08670 | 22684479 | |
|
Intra
|
NOD2 | Q9HC29 | VIM | Homo sapiens | P08670 | 22684479 | |
|
Intra
|
NOD2 | Q9HC29 | RIPK2 | Homo sapiens | O43353 | 22829933 | |
|
Intra
|
NOD2 | Q9HC29 | RIPK2 | Homo sapiens | O43353 | 21931826 | |
|
Intra
|
NOD2 | Q9HC29 | RIPK2 | Homo sapiens | O43353 | 11087742 | |
|
Intra
|
NOD2 | Q9HC29 | NDUFA13 | Homo sapiens | Q9P0J0 | 15753091 | |
|
Intra
|
NOD2 | Q9HC29 | NDUFA13 | Homo sapiens | Q9P0J0 | 15753091 | |
|
Intra
|
NOD2 | Q9HC29 | NDUFA13 | Homo sapiens | Q9P0J0 | 15753091 | |
|
Intra
|
NOD2 | Q9HC29 | KAT5 | Homo sapiens | Q92993 | 21699783 | |
|
Intra
|
NOD2 | Q9HC29 | KAT5 | Homo sapiens | Q92993 | 21699783 | |
|
Intra
|
NOD2 | Q9HC29 | CASP1 | Homo sapiens | P29466 | 18511561 | |
|
Intra
|
NOD2 | Q9HC29 | TRIM27 | Homo sapiens | P14373 | 22829933 | |
|
Intra
|
NOD2 | Q9HC29 | TRIM27 | Homo sapiens | P14373 | 22829933 | |
|
Intra
|
NOD2 | Q9HC29 | TRIM27 | Homo sapiens | P14373 | 22829933 | |
|
Intra
|
NOD2 | Q9HC29 | TRIM27 | Homo sapiens | P14373 | 22829933 | |
|
Intra
|
NOD2 | Q9HC29 | ERBIN | Homo sapiens | Q96RT1-2 | 16203728 | |
|
Intra
|
NOD2 | Q9HC29 | ERBIN | Homo sapiens | Q96RT1-2 | 16203728 | |
|
Intra
|
NOD2 | Q9HC29 | PPP2R5E | Homo sapiens | Q16537 | 21699783 | |
|
Intra
|
NOD2 | Q9HC29 | PPP2R5E | Homo sapiens | Q16537 | 21699783 | |
|
Intra
|
NOD2 | Q9HC29 | ERBIN | Homo sapiens | Q96RT1 | 30833792 | |
|
Intra
|
NOD2 | Q9HC29 | ERBIN | Homo sapiens | Q96RT1 | 16203728 | |
|
Intra
|
NOD2 | Q9HC29 | ERBIN | Homo sapiens | Q96RT1 | 16203728 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spondyloarthropathy |
|
|
| Cystic Fibrosis |
|
|
| Iritis |
|
|
| Celiac Disease 1 |
|
|
| Pyoderma |
|
|
| Rheumatoid Arthritis |
|
|
| Familial Cold Autoinflammatory Syndrome |
|
|
| Yao Syndrome |
|
|
| Diarrhea |
|
|
| Intestinal Tuberculosis |
|
|
| Gastroduodenal Crohn'S Disease |
|
|
| Cinca Syndrome |
|
|
| Diabetes Mellitus |
|
|
| Familial Mediterranean Fever |
|
|
| Blau Syndrome |
|
|
| Spondyloarthropathy 1 |
|
|
| Gastrointestinal Tuberculosis |
|
|
| Inflammatory Bowel Disease 2 |
|
|
| Rectal Disease |
|
|
| Perinatal Necrotizing Enterocolitis |
|
|
| Inflammatory Bowel Disease 24 |
|
|
| Leprosy 3 |
|
|
| Intestinal Perforation |
|
|
| Bacterial Infectious Disease |
|
|
| Anorectal Stricture |
|
|
| Inflammatory Bowel Disease 7 |
|
|
| Salmonellosis |
|
|
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
|
| Autoimmune Disease Of Gastrointestinal Tract |
|
|
| Q Fever |
|
|
| Skin Disease |
|
|
| Anaerobic Meningitis |
|
|
| Mevalonic Aciduria |
|
|
| Spondylitis |
|
|
| Pyoderma Gangrenosum |
|
|
| Inflammatory Bowel Disease 6 |
|
|
| Arthropathy |
|
|
| Arthritis |
|
|
| Uveitis |
|
|
| Panuveitis |
|
|
| Autoinflammatory Syndrome |
|
|
| Autoimmune Disease |
|
|
| Colitis |
|
|
| Sapho Syndrome |
|
|
| Intestinal Obstruction |
|
|
| Chemical Colitis |
|
|
| Common Variable Immunodeficiency |
|
|
| Systemic Lupus Erythematosus |
|
|
| Pouchitis |
|
|
| Ulcerative Colitis |
|
|
| Cholangitis, Primary Sclerosing |
|
|
| Chorioretinitis |
|
|
| Dermatitis |
|
|
| Ileocolitis |
|
|
| Psoriasis |
|
|
| Melioidosis |
|
|
| Disease By Infectious Agent |
|
|
| Aggressive Periodontitis |
|
|
| Hypersensitivity Reaction Type Iv Disease |
|
|
| Inflammatory Bowel Disease 18 |
|
|
| Ileitis |
|
|
| Uveal Disease |
|
|
| Asthma |
|
|
| Hidradenitis Suppurativa |
|
|
| Inflammatory Bowel Disease 9 |
|
|
| Erythema Nodosum |
|
|
| Muckle-Wells Syndrome |
|
|
| Granulomatous Dermatitis |
|
|
| Inflammatory Bowel Disease 1 |
|
|
| Lung Cancer |
|
|
| Colonic Disease |
|
|
| Hidradenitis |
|
|
| Osteomyelitis |
|
|
| Tendinitis |
|
|
| Periodic Fever, Familial, Autosomal Dominant |
|
|
| Melkersson-Rosenthal Syndrome |
|
|
| Primary Bacterial Infectious Disease |
|
|
| Colorectal Cancer |
|
|
| Psoriatic Arthritis |
|
|
| Mycobacterium Tuberculosis 1 |
|
|
| Mastitis |
|
|
| Abdominal Tuberculosis |
|
|
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
|
| Inflammatory Bowel Disease 5 |
|
|
| Peritonitis |
|
|
| Dermatitis, Atopic |
|
|
| Inflammatory Bowel Disease 3 |
|
|
| Aspergillosis |
|
|
| Lymphadenitis |
|
|
| Inflammatory Bowel Disease |
|
|
| Tenosynovitis |
|
|
| Chronic Recurrent Multifocal Osteomyelitis |
|
|
| Sarcoidosis 1 |
|
|
| Behcet Syndrome |
|
|
| Cholangitis |
|
|
| Sigmoid Disease |
|
|
| Toxoplasmosis |
|
|
| Crohn'S Disease |
|
|
| Crohn'S Colitis |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | NOD2 | VGNC | VGNC:67682 |
| Macaca mulatta | NOD2 | VGNC | VGNC:75297 |
| Mus musculus | NOD2 | MGD | MGI:2429397 |
| Canis familiaris | NOD2 | VGNC | VGNC:43878 |
| Bos taurus | NOD2 | VGNC | VGNC:32151 |
| Rattus norvegicus | NOD2 | RGD | RGD:1306368 |
| Others | NOD2 | NCBI |