NLRP2 Gene Summary [Human]
This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Details
| Type | Protein Coding |
| Official Symbol | NLRP2 |
| Official Name | NLR family pyrin domain containing 2 [Source:HGNC Symbol;Acc:HGNC:22948] |
| Ensembl ID | ENSG00000022556 |
| Bio databases IDs | |
| Aliases | NLR family pyrin domain containing 2, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2 |
| Synonyms | CLR19.9, LOC684545, NALP2, NBS1, NLR family pyrin domain containing 2, OZEMA18, PAN1, PYPAF2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NLRP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NLRC4 helical domain HD2
- PAAD/DAPIN/Pyrin domain
- NOD2 winged helix domain
- protein phosphatase 1 regulatory subunit 42
- Leucine rich repeat
- linker domain
- protein domain specific binding
- protein binding
- NACHT domain
- AAA domain
- leucine-rich repeat
- Death Domain Superfamily of protein-protein interaction domains
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the NLRP2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- venous thromboembolism
- primary Sjögren syndrome
- oocyte/zygote/embryo maturation arrest 18
- hyperzincemia and hypercalprotectinemia autoinflammatory syndrome
- diabetic nephropathy
- multisystem inflammatory syndrome in children
role in cell
- phosphorylation in
- disassembly in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- Golgi Apparatus
- cytosol
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NLRP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inflammatory response
- innate immune response
- apoptotic process
- regulation of inflammatory response
- positive regulation of interleukin-1 beta production
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- cytoplasm
- intracellular membrane-bounded organelle
- cytosol
- Golgi apparatus
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- Pyrin domain binding