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Details of NLRP3 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| NLRP3 | C1orf7,CIAS1,NALP3,PYPAF1 | Q96P20 | NALP3_HUMAN | 114548 | ENSG00000162711 | NACHT, LRR and PYD domains-containing protein 3 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100]: A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. Rarely, some patients may also develop late-onset renal amyloidosis. Note=The disease is caused by mutations affecting the gene represented in this entry. | 120100 | Muckle-Wells syndrome (MWS) [MIM:191900]: A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs. Note=The disease is caused by mutations affecting the gene represented in this entry. | 191900 | Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]: Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. Note=The disease is caused by mutations affecting the gene represented in this entry. | 607115 | ||||
Phenotypes
Abnormality of blood and blood-forming tissues, Abnormality of cellular immune system, Abnormality of fluid regulation, Abnormality of head and neck, Abnormality of leukocytes, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of renal physiology, Abnormality of skeletal morphology, Abnormality of temperature regulation, Abnormality of the central nervous system, Abnormality of the conjunctiva, Abnormality of the ear, Abnormality of the eye, Abnormality of the face, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the immune system, Abnormality of the inner ear, Abnormality of the integument, Abnormality of the kidney, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormal joint morphology, Abnormal leukocyte count, Adult onset, Age of onset, All, Arthralgia, Autosomal dominant inheritance, Conjunctivitis, Edema, Elevated erythrocyte sedimentation rate, Episodic fever, Fever, Functional abnormality of the inner ear, Headache, Hearing abnormality, Hearing impairment, Infantile onset, Inflammatory abnormality of the eye, Late onset, Leukocytosis, Mode of inheritance, Myalgia, Onset, Onset and clinical course, Phenotypic abnormality, Progressive hearing impairment, Progressive sensorineural hearing impairment, Renal amyloidosis, Renal insufficiency, Sensorineural hearing impairment.
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| SH3BP1 | NLRP3 | 0.158165408 | SH3BP1 | NLRP3 | cpx519 | no | no | no | Novel |