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FLASH GENE

Symbol

NLRP2

contributors: mct/npt - updated : 27-11-2020

HGNC name	NLR family, pyrin domain containing 2
HGNC id	22948

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	component of a cluster of PYPAF genes
STRUCTURE	35.86 kb     13 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017852 13 - 3530 NP_060322 - 1062 - 2019 30431084 NM_001174081 13 - 3540 NP_001167552 - 1062 - 2019 30431084 NM_001348003 13 - 3531 NP_001334932 - 1059 - 2019 30431084 NM_001174082 12 - 3474 NP_001167553 - 1040 - 2019 30431084 NM_001174083 14 - 3471 NP_001167554 - 1039 - 2019 30431084

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune thymus       highly Reproductive female system ovary     highly Homo sapiens   female system placenta     highly Respiratory respiratory tract trachea     highly

cells

System Cell Pubmed Species Stage Rna symbol Reproductive granulosa cell Mus musculus Reproductive oocyte Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal PYN (Pyrin-PAAD-Dapin) domain
	a nucleotide binding site (NBS-NACHT subfamily)
	a leucine rich repeat region (LRR)

HOMOLOGY

Homologene

FAMILY

nucleotide binding site (NB)/LRR family of proteins

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus
	intracellular,nuclear envelope,pore
text	NLRP2 protein is located in the cytoplasm, nucleus and close to nuclear pores in the oocytes, as well as in the surrounding granulosa cells

basic FUNCTION	involved in the activation of pro-inflammatory caspases
	functioning as a modulator of the activation of NF-kappaB and pro-caspase-1 in macrophages
	implicated in the activation of caspase-1 by the Toll-like receptors (TLRs) during the cells response to microbial infection (Tschopp 2003)
	play important roles in both mammalian innate immune system and reproductive system (Tian 2009)
	may control NF-kappaB activation through a regulatory loop (Fontalba 2007)
	has a previously unrecognised role in establishing or maintaining genomic imprinting in humans (Meyer 2009)
	inhibit the NF-kappaB signaling pathway, and thus may contribute to modulate the inflammatory response, where NF-kappaB plays a major role (Fontalba 2007)
	may play a role in regulating the trophoblastic differentiation of human pluripotent stem cells
	NLRP2 and NLRP5 are novel mutant genes responsible for human early embryonic arrest
	role for NLRP2 in regulating proinflammatory, profibrotic and antiapoptotic responses in proximal tubular epithelial cells (PTEC), through NFKB1 activation

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

inflammation

PATHWAY

metabolism

signaling

signal transduction

NLRP2-TBK1 axis may serve as an additional signaling cascade to maintain immune homeostasis in response to viral infection

a component

INTERACTION

DNA

RNA

small molecule

protein	binds via its PYRIN domain to ASC, an adapter protein involved in caspase-1 activation
	inhibit the NFKB1 signaling, and thus may contribute to regulate the inflammatory response

cell & other

REGULATION

Other

regulated by lipopolysaccharide (LPS) and interferons (IFNbeta and IFNgamma) in THP-1 macrophage cells

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   markedly decreased in liver tissues of individuals with severe steatosis

Susceptibility

to amplification of inflammatory responses to variation of maternal age-associated fertility loss

Variant & Polymorphism other	polymorphism within the NACHT domain may contribute to the amplification of inflammatory responses due to a reduction of inhibitory signals on the NF-kappaB pathway (Fontalba 2007)
	NLRP2 variants with reduced activity may contribute to maternal age-associated fertility loss

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed digestive liver steatosis NLRP2 might be a potential target for developing effective therapeutic strategy to prevent NAFLD progression

ANIMAL & CELL MODELS

unlike oocytes of young adult Nlrp2-deficient mice, activated oocytes of mature adult mice developed slower and largely failed to reach the blastocyst stage