NLRP2 - NLR family pyrin domain containing 2 Gene

Homo sapiens

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

Gene ID: 55655 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

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

Orthologs Information

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

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