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This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008]
[中文简述(自动翻译):]  该基因编码含有pyrin域,核苷酸结合位点(NBS)结构域和富含亮氨酸重复序列(LRR)基序的pyrin样蛋白。这种蛋白质与细胞凋亡相关斑点样蛋白PYCARD / ASC,其中包含胱天蛋白酶募集结构域相互作用,并且是NALP3炎性复杂的成员。这种复杂的功能,NF-κB的信号的上游活化剂,和它在炎症的调节,免疫反应和凋亡的作用。在这个基因的突变与家族性寒冷自身炎症综合征(FCAS),穆 - 韦综合征(MWS),慢性婴儿神经性皮肤及关节(CINCA)综合征和新生儿发病多系统炎性疾病(NOMID)有关。编码不同同种型的多个可变剪接转录物变体已被确定为这个基因。替代品5‘UTR结构由现有数据表明,然而,证据不足可用以确定是否所有的代表5‘端非编码区剪接模式是生物学有效。 [由RefSeq的,2008年10月提供]
NLRP3基因(以及对应的蛋白质)的细胞分布位置:
NLRP3基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Muckle-Wells Syndrome | 0.567057489 | 28 | 8 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Familial cold urticaria | 0.566786047 | 27 | 11 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome | 0.450043349 | 39 | 6 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
Crohn Disease | 0.140812605 | 14 | 2 | BeFree_CTD_human_GAD_LHGDN |
Cryopyrin-Associated Periodic Syndromes | 0.132757768 | 49 | 4 | BeFree_CTD_human |
Inflammation | 0.12272435 | 3 | 0 | CTD_human_LHGDN |
anaphylaxis | 0.122367032 | 1 | 0 | CTD_human_GAD |
Drug Allergy | 0.122367032 | 1 | 0 | CTD_human_GAD |
Food Allergy | 0.122367032 | 1 | 0 | CTD_human_GAD |
Fibrinogen Adverse Event | 0.122367032 | 2 | 2 | GAD_GWASCAT |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Rheumatoid Arthritis | 0.010444275 | 11 | 2 | BeFree_GAD_LHGDN |
Urticaria | 0.00680591 | 7 | 0 | BeFree_LHGDN |
Familial Mediterranean Fever | 0.006634157 | 9 | 0 | BeFree_GAD |
Central Diabetes Insipidus | 0.005352893 | 12 | 0 | BeFree_GAD |
Inflammatory Bowel Diseases | 0.004267125 | 8 | 0 | BeFree_GAD |
Hypertensive disease | 0.003995683 | 6 | 0 | BeFree_GAD |
Hereditary Autoinflammatory Diseases | 0.003724241 | 6 | 0 | BeFree_GAD |
Degenerative polyarthritis | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Amyloidosis | 0.003452799 | 5 | 0 | BeFree_GAD |
HIV Infections | 0.003452799 | 4 | 0 | BeFree_GAD |
Juvenile arthritis | 0.003452799 | 4 | 2 | BeFree_GAD |
MARDEN-WALKER SYNDROME | 0.003257302 | 12 | 1 | BeFree |
Behcet Syndrome | 0.003181358 | 4 | 0 | BeFree_GAD |
Celiac Disease | 0.003181358 | 3 | 1 | BeFree_GAD |
Diabetes Mellitus, Insulin-Dependent | 0.003181358 | 3 | 0 | BeFree_GAD |
Arthritis | 0.002909916 | 3 | 0 | BeFree_GAD |
Dermatitis, Atopic | 0.002909916 | 2 | 0 | BeFree_GAD |
Hyperimmunoglobulinemia D | 0.002909916 | 3 | 0 | BeFree_GAD |
Huntington Disease | 0.00272435 | 1 | 0 | LHGDN |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Arteriosclerosis | 0.002714419 | 10 | 0 | BeFree |
Atherosclerosis | 0.002714419 | 10 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002714419 | 10 | 0 | BeFree |
Chlamydia Infections | 0.002638474 | 2 | 0 | BeFree_GAD |
Vulvar Vestibulitis | 0.002638474 | 1 | 0 | BeFree_GAD |
Candidiasis, Vulvovaginal | 0.002638474 | 1 | 0 | BeFree_GAD |
Arthritis, Psoriatic | 0.002367032 | 1 | 0 | GAD |
Fallopian Tube Diseases | 0.002367032 | 1 | 0 | GAD |
Lymphadenitis | 0.002367032 | 1 | 0 | GAD |
Pharyngitis | 0.002367032 | 1 | 0 | GAD |
Aphthous Stomatitis | 0.002367032 | 1 | 0 | GAD |
Hematologic Neoplasms | 0.002367032 | 1 | 0 | GAD |
Dermatitis and eczema | 0.002367032 | 1 | 0 | GAD |
Inflammatory disorder | 0.001900093 | 7 | 1 | BeFree |
Pituitary Diseases | 0.001628651 | 6 | 0 | BeFree |
Mycoses | 0.001357209 | 5 | 0 | BeFree |
Coronary Arteriosclerosis | 0.001085767 | 4 | 1 | BeFree |
Coronary heart disease | 0.001085767 | 4 | 1 | BeFree |
Periodic fever | 0.001085767 | 4 | 1 | BeFree |
Kidney Diseases | 0.001085767 | 4 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.001085767 | 4 | 0 | BeFree |
Obesity | 0.001085767 | 4 | 0 | BeFree |
Juvenile rheumatoid arthritis | 0.001085767 | 4 | 2 | BeFree |
Colitis | 0.000814326 | 3 | 0 | BeFree |
Ulcerative Colitis | 0.000814326 | 3 | 0 | BeFree |
Diabetes | 0.000814326 | 3 | 0 | BeFree |
Diabetes Insipidus | 0.000814326 | 3 | 0 | BeFree |
Diabetes Mellitus | 0.000814326 | 3 | 0 | BeFree |
Metabolic Diseases | 0.000814326 | 3 | 0 | BeFree |
Septicemia | 0.000814326 | 3 | 0 | BeFree |
Tuberculosis | 0.000814326 | 3 | 0 | BeFree |
Virus Diseases | 0.000814326 | 3 | 0 | BeFree |
Essential Hypertension | 0.000814326 | 3 | 0 | BeFree |
Age related macular degeneration | 0.000814326 | 3 | 0 | BeFree |
Sepsis | 0.000814326 | 3 | 0 | BeFree |
Chronic Kidney Diseases | 0.000814326 | 3 | 0 | BeFree |
Coronary Artery Disease | 0.000814326 | 3 | 1 | BeFree |
Anxiety Disorders | 0.000542884 | 2 | 0 | BeFree |
Aortic Aneurysm | 0.000542884 | 2 | 0 | BeFree |
Arthralgia | 0.000542884 | 2 | 0 | BeFree |
Arthritis, Gouty | 0.000542884 | 2 | 0 | BeFree |
Autoimmune Diseases | 0.000542884 | 2 | 0 | BeFree |
Bacterial Infections | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Dehydration | 0.000542884 | 2 | 0 | BeFree |
Eczema | 0.000542884 | 2 | 0 | BeFree |
Gingival Diseases | 0.000542884 | 2 | 0 | BeFree |
Immune System Diseases | 0.000542884 | 2 | 0 | BeFree |
Influenza | 0.000542884 | 2 | 0 | BeFree |
Malaria | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000542884 | 2 | 0 | BeFree |
Meningitis, Pneumococcal | 0.000542884 | 2 | 0 | BeFree |
Multiple Sclerosis | 0.000542884 | 2 | 0 | BeFree |
Myocardial Infarction | 0.000542884 | 2 | 0 | BeFree |
Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Periodontal Diseases | 0.000542884 | 2 | 0 | BeFree |
Pneumonia | 0.000542884 | 2 | 0 | BeFree |
Psoriasis | 0.000542884 | 2 | 0 | BeFree |
Ureteral obstruction | 0.000542884 | 2 | 0 | BeFree |
Polydipsia | 0.000542884 | 2 | 0 | BeFree |
Reactive systemic amyloidosis | 0.000542884 | 2 | 0 | BeFree |
Fibrosis, Liver | 0.000542884 | 2 | 0 | BeFree |
Systemic amyloidosis | 0.000542884 | 2 | 0 | BeFree |
Amyloid nephropathy | 0.000542884 | 2 | 5 | BeFree |
Infection by Candida albicans | 0.000542884 | 2 | 0 | BeFree |
Primary Systemic Amyloidosis | 0.000542884 | 2 | 0 | BeFree |
Deficiency of mevalonate kinase | 0.000542884 | 2 | 0 | BeFree |
Non-alcoholic Fatty Liver Disease | 0.000542884 | 2 | 0 | BeFree |
Chronic Kidney Insufficiency | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Congenital Nephrogenic Diabetes Insipidus | 0.000542884 | 2 | 0 | BeFree |
Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Infectious disease of lung | 0.000542884 | 2 | 0 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
Geographic Atrophy | 0.000542884 | 2 | 0 | BeFree |
AA amyloidosis | 0.000542884 | 2 | 0 | BeFree |
Adenoma | 0.000271442 | 1 | 0 | BeFree |
Adrenal Rest Tumor | 0.000271442 | 1 | 0 | BeFree |
Anthracosis | 0.000271442 | 1 | 1 | BeFree |
Asthma | 0.000271442 | 1 | 0 | BeFree |
Bloom Syndrome | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Brucellosis | 0.000271442 | 1 | 0 | BeFree |
Burkitt Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of skin | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
CNS disorder | 0.000271442 | 1 | 0 | BeFree |
Cystic Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Dermatitis | 0.000271442 | 1 | 0 | BeFree |
Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
Dry Eye Syndromes | 0.000271442 | 1 | 0 | BeFree |
Encephalitis | 0.000271442 | 1 | 0 | BeFree |
Japanese Encephalitis | 0.000271442 | 1 | 0 | BeFree |
Experimental Autoimmune Encephalomyelitis | 0.000271442 | 1 | 0 | BeFree |
Exanthema | 0.000271442 | 1 | 0 | BeFree |
Fatty Liver | 0.000271442 | 1 | 0 | BeFree |
Gingivitis | 0.000271442 | 1 | 0 | BeFree |
Heart Diseases | 0.000271442 | 1 | 0 | BeFree |
Severe Dengue | 0.000271442 | 1 | 0 | BeFree |
Hepatitis C | 0.000271442 | 1 | 0 | BeFree |
Hepatomegaly | 0.000271442 | 1 | 0 | BeFree |
Herpes Simplex Infections | 0.000271442 | 1 | 0 | BeFree |
Hyperglycemia | 0.000271442 | 1 | 0 | BeFree |
Ischemia | 0.000271442 | 1 | 0 | BeFree |
Kidney Failure, Acute | 0.000271442 | 1 | 0 | BeFree |
Lichen Planus | 0.000271442 | 1 | 0 | BeFree |
Lung diseases | 0.000271442 | 1 | 2 | BeFree |
Lupus Vulgaris | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Discoid | 0.000271442 | 1 | 0 | BeFree |
Lupus Nephritis | 0.000271442 | 1 | 0 | BeFree |
Melioidosis | 0.000271442 | 1 | 0 | BeFree |
Aseptic Meningitis | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
Mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Mixed Salivary Gland Tumor | 0.000271442 | 1 | 0 | BeFree |
Myxoma | 0.000271442 | 1 | 0 | BeFree |
Nasal Polyps | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Peritonitis | 0.000271442 | 1 | 0 | BeFree |
Lobar Pneumonia | 0.000271442 | 1 | 0 | BeFree |
Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
Polyuria | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Relapsing Fever | 0.000271442 | 1 | 0 | BeFree |
Respiratory Syncytial Virus Infections | 0.000271442 | 1 | 0 | BeFree |
Rift Valley Fever | 0.000271442 | 1 | 0 | BeFree |
Rosacea | 0.000271442 | 1 | 0 | BeFree |
Systemic Scleroderma | 0.000271442 | 1 | 0 | BeFree |
Silicosis | 0.000271442 | 1 | 0 | BeFree |
Ankylosing spondylitis | 0.000271442 | 1 | 0 | BeFree |
Superinfection | 0.000271442 | 1 | 0 | BeFree |
Chagas Disease | 0.000271442 | 1 | 0 | BeFree |
Photophobia | 0.000271442 | 1 | 0 | BeFree |
Primary gout | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Active tuberculosis | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000271442 | 1 | 0 | BeFree |
Streptococcal pneumonia | 0.000271442 | 1 | 0 | BeFree |
Aortic Aneurysm, Abdominal | 0.000271442 | 1 | 0 | BeFree |
Hepatoblastoma | 0.000271442 | 1 | 0 | BeFree |
Adrenocortical carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Myalgia | 0.000271442 | 1 | 0 | BeFree |
Neurologic Symptoms | 0.000271442 | 1 | 0 | BeFree |
Interstitial fibrosis | 0.000271442 | 1 | 2 | BeFree |
Chronic Periodontitis | 0.000271442 | 1 | 0 | BeFree |
Asymptomatic Infections | 0.000271442 | 1 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Very Low Birth Weight | 0.000271442 | 1 | 0 | BeFree |
Dryness of eye | 0.000271442 | 1 | 0 | BeFree |
Ventricular hypertrophy | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus | 0.000271442 | 1 | 0 | BeFree |
Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
Metabolic Syndrome X | 0.000271442 | 1 | 0 | BeFree |
Hepatitis C, Chronic | 0.000271442 | 1 | 0 | BeFree |
Primary sclerosing cholangitis | 0.000271442 | 1 | 0 | BeFree |
Periodic syndrome | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Hyperuricemia | 0.000271442 | 1 | 0 | BeFree |
Multiple Sclerosis, Relapsing-Remitting | 0.000271442 | 1 | 0 | BeFree |
Acute GVH disease | 0.000271442 | 1 | 0 | BeFree |
Hyponatraemic | 0.000271442 | 1 | 2 | BeFree |
Arthritis, Collagen-Induced | 0.000271442 | 1 | 0 | BeFree |
West Nile viral infection | 0.000271442 | 1 | 0 | BeFree |
TNF receptor-associated periodic fever syndrome (TRAPS) | 0.000271442 | 1 | 0 | BeFree |
Chronic inflammatory disorder | 0.000271442 | 1 | 0 | BeFree |
Staphylococcus aureus infection | 0.000271442 | 1 | 0 | BeFree |
Mixed Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Conn Syndrome | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathy, Familial Idiopathic | 0.000271442 | 1 | 0 | BeFree |
Human T-cell lymphotropic virus 1 infection | 0.000271442 | 1 | 1 | BeFree |
Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Mucosal infection | 0.000271442 | 1 | 0 | BeFree |
Aggressive periodontitis, generalized | 0.000271442 | 1 | 0 | BeFree |
Idiopathic Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
Nephrogenic Syndrome of Inappropriate Antidiuresis | 0.000271442 | 1 | 0 | BeFree |
Acth-Independent Macronodular Adrenal Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne | 0.000271442 | 1 | 0 | BeFree |
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) | 0.000271442 | 1 | 0 | BeFree |
PHOTOPAROXYSMAL RESPONSE 1 | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Allergic rhinitis (disorder) | 0.000271442 | 1 | 0 | BeFree |
Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
Protein Misfolding Disorders | 0.000271442 | 1 | 0 | BeFree |
Nonalcoholic Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
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