NLRP2 (NLR family pyrin domain containing 2)

2007-07-01 Affiliation

Identity

HGNC

NLRP2

LOCATION

19q13.42

LOCUSID

55655

ALIAS

CLR19.9,NALP2,NBS1,PAN1,PYPAF2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55655
MIM: 609364
HGNC: 22948
Ensembl: ENSG00000022556

Variants:

dbSNP: 55655
ClinVar: 55655
TCGA: ENSG00000022556
COSMIC: NLRP2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000022556	ENST00000263437	J3KN39
ENSG00000022556	ENST00000339757	Q9NX02
ENSG00000022556	ENST00000381637	A0A0G2JLJ4
ENSG00000022556	ENST00000391721	Q9NX02
ENSG00000022556	ENST00000397169	F5GYZ4
ENSG00000022556	ENST00000427260	Q9NX02
ENSG00000022556	ENST00000433772	F5H5B1
ENSG00000022556	ENST00000448584	Q9NX02
ENSG00000022556	ENST00000537859	Q9NX02
ENSG00000022556	ENST00000539848	F5H7Q5
ENSG00000022556	ENST00000540005	K7EMK2
ENSG00000022556	ENST00000543010	Q9NX02
ENSG00000022556	ENST00000543277	H0YH35
ENSG00000022556	ENST00000585500	K7EPE6
ENSG00000022556	ENST00000588107	K7EJ90
ENSG00000022556	ENST00000588619	K7ELX1

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

References

Pubmed ID	Year	Title	Citations
23625868	2013	Human astrocytes express a novel NLRP2 inflammasome.	78
19300480	2009	Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).	66
15456791	2004	PAN1/NALP2/PYPAF2, an inducible inflammatory mediator that regulates NF-kappaB and caspase-1 activation in macrophages.	63
15817483	2005	PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion.	45
18369178	2008	SNP-specific array-based allele-specific expression analysis.	34
19074885	2008	Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.	25
19103770	2009	Toll-like receptor 2 and NALP2 mediate induction of human beta-defensins by fusobacterium nucleatum in gingival epithelial cells.	22
20403135	2010	The genetics of NOD-like receptors in Crohn's disease.	21
29574422	2018	Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.	20
19900269	2009	Insights in to the pathogenesis of axial spondyloarthropathy based on gene expression profiles.	19

Citation

Dessen P

NLRP2 (NLR family pyrin domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47654/nlrp2