NLRP2
entrez
55655
canonical
uniprot
Q9NX02
canonical
ensembl
ENSG00000022556
resolver
ensembl
ENSG00000273992
resolver
ensembl
ENSG00000274638
resolver
ensembl
ENSG00000275082
resolver
ensembl
ENSG00000275399
resolver
ensembl
ENSG00000275796
resolver
ensembl
ENSG00000275843
resolver
ensembl
ENSG00000278682
resolver
ensembl
ENSG00000278789
resolver
ensp
ENSP00000263437
resolver
ensp
ENSP00000402474
resolver
ensp
ENSP00000409370
resolver
ensp
ENSP00000440601
resolver
ensp
ENSP00000445135
resolver
ensp
ENSP00000479677
resolver
enst
ENST00000263437
resolver
enst
ENST00000612740
resolver
genesymbol
NLRP2
resolver
genesymbol_syn
NALP2
resolver
genesymbol_syn
NBS1
resolver
genesymbol_syn
PAN1
resolver
genesymbol_syn
PYPAF2
resolver
hgnc
HGNC:22948
resolver
uniprot
A8K9G6
resolver
uniprot
B4DZL7
resolver
uniprot
I3L0G4
resolver
uniprot
J3KN39
resolver
uniprot
Q53FL5
resolver
uniprot
Q59G09
resolver
uniprot
Q8IXT0
resolver
uniprot
Q9BVN5
resolver
uniprot
Q9H6G6
resolver
uniprot
Q9HAV9
resolver
uniprot
Q9NWK3
resolver
uniprot_entry
A8K9G6_HUMAN
resolver
uniprot_entry
J3KN39_HUMAN
resolver
uniprot_entry
NALP2_HUMAN
resolver
uniprot_sec
B4DZL7
resolver
uniprot_sec
I3L0G4
resolver
uniprot_sec
Q53FL5
resolver
uniprot_sec
Q59G09
resolver
uniprot_sec
Q8IXT0
resolver
uniprot_sec
Q9BVN5
resolver
uniprot_sec
Q9H6G6
resolver
uniprot_sec
Q9HAV9
resolver
uniprot_sec
Q9NWK3
resolver
amino_acid_sequence
MVSSAQMGFNLQALLEQLSQDELSKFKYLITTFSLAHELQKIPHKEVDKADGKQLVEILTTHCDSYWVEMASLQVFEKMHRMDLSERAKDEVREAALKSFNKRKPLSLGITRKERPPLDVDEMLERFKTEAQAFTETKGNVICLGKEVFKGKKPDKDNRCRYILKTKFREMWKSWPGDSKEVQVMAERYKMLIPFSNPRVLPGPFSYTVVLYGPAGLGKTTLAQKLMLDWAEDNLIHKFKYAFYLSCRELSRLGPCSFAELVFRDWPELQDDIPHILAQARKILFVIDGFDELGAAPGALIEDICGDWEKKKPVPVLLGSLLNRVMLPKAALLVTTRPRALRDLRILAEEPIYIRVEGFLEEDRRAYFLRHFGDEDQAMRAFELMRSNAALFQLGSAPAVCWIVCTTLKLQMEKGEDPVPTCLTRTGLFLRFLCSRFPQGAQLRGALRTLSLLAAQGLWAQTSVLHREDLERLGVQESDLRLFLDGDILRQDRVSKGCYSFIHLSFQQFLTALFYTLEKEEEEDRDGHTWDIGDVQKLLSGVERLRNPDLIQAGYYSFGLANEKRAKELEATFGCRMSPDIKQELLRCDISCKGGHSTVTDLQELLGCLYESQEEELVKEVMAQFKEISLHLNAVDVVPSSFCVKHCRNLQKMSLQVIKENLPENVTASESDAEVERSQDDQHMLPFWTDLCSIFGSNKDLMGLAINDSFLSASLVRILCEQIASDTCHLQRVVFKNISPADAHRNLCLALRGHKTVTYLTLQGNDQDDMFPALCEVLRHPECNLRYLGLVSCSATTQQWADLSLALEVNQSLTCVNLSDNELLDEGAKLLYTTLRHPKCFLQRLSLENCHLTEANCKDLAAVLVVSRELTHLCLAKNPIGNTGVKFLCEGLRYPECKLQTLVLWNCDITSDGCCDLTKLLQEKSSLLCLDLGLNHIGVKGMKFLCEALRKPLCNLRCLWLWGCSIPPFSCEDLCSALSCNQSLVTLDLGQNPLGSSGVKMLFETLTCSSGTLRTLRLKIDDFNDELNKLLEEIEEKNPQLIIDTEKHHPWAERPSSHDFMI
uniprot
proteins
disease_involvement
DISEASE: Oocyte/zygote/embryo maturation arrest 18 (OZEMA18) [MIM:620332]: 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. {ECO:0000269|PubMed:30877238, ECO:0000269|PubMed:33020905, ECO:0000269|PubMed:39887367, ECO:0000269|PubMed:39905760}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of cytoplasmic lattices, which consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos (PubMed:41118754). Cytoplasmic lattices are required to store maternal proteins critical for embryonic development, such as ribosomal proteins, cytoskeletal tubulins and proteins controlling epigenetic reprogramming of the preimplantation embryo, in a poised but restrained state, regulating their availability for early embryonic development (PubMed:41118754). Suppresses TNF- and CD40-induced NFKB1 activity at the level of the IKK complex, by inhibiting NFKBIA degradation induced by TNF (PubMed:15456791). When associated with PYCARD, activates CASP1, leading to the secretion of mature pro-inflammatory cytokine IL1B (PubMed:15456791). 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 (PubMed:15456791). {ECO:0000269|PubMed:15456791, ECO:0000269|PubMed:41118754}.
uniprot
proteins
mass_dalton
120515
uniprot
proteins
protein_family
NLRP family
uniprot
proteins
pubmed
11250163
uniprot
proteins
pubmed
11270363
uniprot
proteins
pubmed
12019269
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15030775
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15456791
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17178784
uniprot
proteins
pubmed
17431422
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
30877238
uniprot
proteins
pubmed
33020905
uniprot
proteins
pubmed
37148315
uniprot
proteins
pubmed
39887367
uniprot
proteins
pubmed
39905760
uniprot
proteins
pubmed
41118754
uniprot
proteins
sequence_length
1062
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15030775, ECO:0000269|PubMed:15456791}.
uniprot
proteins