NLRP4 (NLR family pyrin domain containing 4)

2014-11-01 Affiliation

Identity

HGNC

NLRP4

LOCATION

19q13.43

LOCUSID

147945

ALIAS

CLR19.5,CT58,NALP4,PAN2,PYPAF4,RNH2

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: 147945
MIM: 609645
HGNC: 22943
Ensembl: ENSG00000160505

Variants:

dbSNP: 147945
ClinVar: 147945
TCGA: ENSG00000160505
COSMIC: NLRP4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000160505	ENST00000301295	Q96MN2
ENSG00000160505	ENST00000587464	K7ES09
ENSG00000160505	ENST00000587891	Q96MN2
ENSG00000160505	ENST00000589437	K7ESK5

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

Pathways

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Cytosolic sensors of pathogen-associated DNA	REACTOME	R-HSA-1834949
ZBP1(DAI) mediated induction of type I IFNs	REACTOME	R-HSA-1606322
IRF3 mediated activation of type 1 IFN	REACTOME	R-HSA-1606341
STING mediated induction of host immune responses	REACTOME	R-HSA-1834941
IRF3-mediated induction of type I IFN	REACTOME	R-HSA-3270619
Regulation of innate immune responses to cytosolic DNA	REACTOME	R-HSA-3134975

References

Pubmed ID	Year	Title	Citations
22388039	2012	NLRP4 negatively regulates type I interferon signaling by targeting the kinase TBK1 for degradation via the ubiquitin ligase DTX4.	83
21209283	2011	NLRP4 negatively regulates autophagic processes through an association with beclin1.	66
19074885	2008	Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.	25
20403135	2010	The genetics of NOD-like receptors in Crohn's disease.	21
22928810	2012	Structural and functional analysis of the NLRP4 pyrin domain.	14
25403012	2015	Intrinsic flexibility of NLRP pyrin domains is a key factor in their conformational dynamics, fold stability, and dimerization.	9
24871464	2014	The CLRX.1/NOD24 (NLRP2P) pseudogene codes a functional negative regulator of NF-κB, pyrin-only protein 4.	8
28486191	2017	NLRP4 is an essential negative regulator of fructose-induced cardiac injury in vitro and in vivo.	2
30526007	2019	Association of Genetic Variants of NLRP4 with Exacerbation of Asthma: The Effect of Smoking.	2
29099277	2017	The intracellular microbial sensor NLRP4 directs Rho-actin signaling to facilitate Group A Streptococcus-containing autophagosome-like vacuole formation.	1

Citation

Dessen P

NLRP4 (NLR family pyrin domain containing 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70876/nlrp4