NLRP2 - NLR family pyrin domain containing 2 Gene

Also Known as NBS1; PAN1; NALP2; PYPAF2; CLR19.9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55655

About NLRP2

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:54,965,284-55,001,138 (from NCBI)

This gene has 19 transcripts (splice variants), 1 gene allele, 66 orthologues, 20 paralogues and is associated with 1 phenotype. Broad expression in placenta (RPKM 9.2), urinary bladder (RPKM 9.0) and 16 other tissues.

Summary

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]

NLRP2 Products (5)

mRNA	Protein	Name
NM_001174081.3	NP_001167552.1	NACHT, LRR and PYD domains-containing protein 2 isoform 1
NM_001174082.3	NP_001167553.1	NACHT, LRR and PYD domains-containing protein 2 isoform 2
NM_001174083.2	NP_001167554.1	NACHT, LRR and PYD domains-containing protein 2 isoform 3
NM_001348003.2	NP_001334932.1	NACHT, LRR and PYD domains-containing protein 2 isoform 4
NM_017852.5	NP_060322.1	NACHT, LRR and PYD domains-containing protein 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables Pyrin domain binding	IPI IPI: Inferred from physical interaction	15030775	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15030775	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of non-canonical NF-kappaB signal transduction	IGI IGI: Inferred from genetic interaction	15817483	GOA
involved in positive regulation of interleukin-1 beta production	IDA IDA: Inferred from direct assay	15030775	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with chromosome, telomeric region	IDA IDA: Inferred from direct assay	24270157	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	15030775	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NLRP2 Protein Structure

PYRIN

NACHT

LRR_6

0
200
400
600
800
1000
1062 a.a.

Protein Preferred Names	Protein Names
NACHT, LRR and PYD domains-containing protein 2	NACHT, leucine rich repeat and PYD containing 2

NLRP2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NLRP2	Q9NX02	PYDC2	Homo sapiens	Q56P42	Y2H	17178784
Intra	NLRP2	Q9NX02	PYDC2	Homo sapiens	Q56P42	Confocal	17178784

Cross: Cross-species interaction Intra: Intraspecies interaction

NLRP2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89586	NALP2 Antibody (YA8930)	WB, ICC/IF, IF-Tissue, IP, ELISA	human, mouse, rat

Related Diseases

Diseases	Alias
Multisystem Inflammatory Syndrome In Children	Mis-C Multisystem Inflammatory Disorder In Children And Adolescents Paediatric Inflammatory Multisystemic Syndrome Mic
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Immunodeficiency 15a	IMD15A
Gestational Trophoblastic Neoplasm	Hydatidiform Mole Molar Pregnancy Gestational Trophoblastic Neoplasia Gestational Trophoblastic Tumor Gtn Gestational Trophoblastic Disease Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole Benign Trophoblastic Disease Trophoblastic Disease Nos Trophoblastic Disorder Vesicular Mole Nos Vesicular Mole Hydatidiform Mole Nos
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Trophoblastic Neoplasm	Trophoblastic Tumor Trophoblastic Neoplasms
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism Type 1b PHP1B Pseudohypoparathyroidism Ib Pseudohypoparathyroidism Type Ib Php Ib Pseudohypoparathyroidism 1b
Kagami-Ogata Syndrome	Paternal Uniparental Disomy Of Chromosome 14 Uniparental Disomy, Paternal, Chromosome 14 Kos Mca Due To 14q32.2 Maternally Expressed Gene Defect Paternal Uniparental Disomy 14 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion Maternal Del(14)(Q32.2) Maternal Monosomy 14q32.2 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 Upd(14)Pat
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09356	NLRP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NLRP2	MGD	MGI:3041206
Rattus norvegicus	NLRP2	RGD	RGD:1589140
Others	NLRP2	NCBI