NLRP2
Domain
When isolated, the NACHT domain is involved in interaction with CARD8. This interaction is not detected for the full-length protein, maybe due to autoinhibition, this inhibition might by relieved by an inducible change in protein folding.
The pyrin domain is necessary and sufficient for suppression of NFKB1 activation induced by TNF and for inducing IL1B secretion in collaboration with caspase-1. It is involved in interaction with PYCARD.
Function
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.
Involvement in disease
Oocyte/zygote/embryo maturation arrest 18
OZEMA18
An autosomal recessive female infertility disorder. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development or cannot establish pregnancy after implantation.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the NLRP family.
Tissue Specificity
Expressed at high levels in lung, placenta and thymus and at lower levels in ovary, intestine and brain (PubMed:15456791). Highly abundant in oocytes and early embryos, however poorly expressed in somatic tissues such as brain, kidney, liver and spinal cord (PubMed:30877238).
Cellular localization
- Cytoplasm
Alternative names
NALP2, NBS1, PAN1, PYPAF2, NLRP2, Nucleotide-binding site protein 1, PYRIN domain and NACHT domain-containing protein 1, PYRIN-containing APAF1-like protein 2