NLR family pyrin domain containing 2
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Multi locus imprinting disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalMonogenic short stature
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalSegmental overgrowth disorders - Deep sequencing
BOTH monoallelic and biallelic, autosomal or pseudoautosomaloocyte/zygote/embryo maturation arrest 18
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
CINCA syndrome
response to xenobiotic stimulus
stricture
Alzheimer disease
retinitis pigmentosa
Leber congenital amaurosis
Familial exudative vitreoretinopathy
Cone rod dystrophy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
NACHT, LRR and PYD domains-containing protein 2
Suppresses TNF- and CD40-induced NFKB1 activity at the level of the IKK complex, by inhibiting NFKBIA degradation induced by TNF. When associated with PYCARD, activates CASP1, leading to the secretion of mature pro-inflammatory cytokine IL1B. May be a component of the inflammasome, a protein complex which also includes PYCARD, CARD8 and CASP1 and whose function would be the activation of pro-inflammatory caspases
NLRP2 · Q9NX02
Mean pLDDT
81.4/ 100
Confident
1,062 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
