Property Summary

NCBI Gene PubMed Count 33
PubMed Score 232.46
PubTator Score 53.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count P-value
osteosarcoma 7933 9.8e-05
tuberculosis 1563 1.2e-02
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Pyometritis 2 4.873 2.4
Mevalonic aciduria 12 3.151 1.6
Blau syndrome 8 3.092 1.5

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -2.277 9.8e-05
tuberculosis 1.100 1.2e-02

 GO Component (1)

Gene RIF (24)

PMID Text
26763980 NLRX1, NLRP12 and NLRC3 negatively modulate the host immune response following virus exposure. (Review)
26329693 This process involved the upregulation of NLRP12.
26122175 Variants of NLRP12 were associated with common variable immunodeficiency.
25249449 The genetics, expression and roles of NLRP12 in inflammatory signaling, host defense, and carcinogenesis are reviewed. Review.
25064839 This study suggested that NLRP12 mutations might account for a small fraction of common variable immunodeficiency patients with severe auto-inflammatory complications.
24453977 NLRP12/NLRP3-dependent activation of caspase-1 is likely to be a key event in mediating systemic production of IL-1beta and hypersensitivity to secondary bacterial infection during malaria.
24338634 We will focus on NLRP6 and NLRP12.
24064030 Letter: NLRP12 mutations associated with familial cold autoinflammatory syndrome 2 in Italian patients.
21978668 The authors report the first in vitro confirmed non-homotypic interaction between NLRP12 pyrin domain and the pro-apoptotic protein Fas-associated factor 1 (FAF-1), which links the innate immune system to apoptotic signaling.
21538323 NLRP12 missense mutation in periodic fever syndromes; study provides evidence of deleterious effect of an NLRP12 missense mutation; this newly identified molecular defect emphasizes the crucial role played by NLRP12 in autoinflammation
21360512 Even with a variable range of associated manifestations, the extreme sensitivity to cold represents the main clinical hallmark in an individual carrying the p.D294E mutation of the NLRP12 gene.
21048031 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20403135 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18263805 Relative copy numbers for the inflammasome mRNAs for ASC, caspase-1, NALP1, and Pypaf-7 were significantly lower in patients with septic shock compared with critically ill control subjects.
18230725 Two mutations, nonsense and splice site, were identified in NALP12 in two families with periodic fever syndromes.
18160710 ATP binding by NLRP12 is critical for its inhibitory function.
17947705 Heat shock protein 90 is a critical regulator of Monarch-1 anti-inflammatory activity
17620097 Observational study of gene-disease association. (HuGE Navigator)
17237370 Monarch-1 inhibits CD40-mediated activation of NF-kappaB via the non-canonical pathway in human monocytes. This inhibition stems from the ability of Monarch-1 to associate with and induce proteasome-mediated degradation of NF-kappaB inducing kinase
16203735 Monarch-1 associates with IRAK-1 but not MyD88, resulting in the blockage of IRAK-1 hyperphosphorylation
12759408 Monarch-1 enhances nonclassical and classical major histocompatibility complex class I expression at the level of the promoter, RNA, and protein expression.
12019269 regulates activation of NF-kappa B and caspase-1-dependent cytokine processing

AA Sequence

MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELGEGKIPWGSMEKAGPLEMAQLLITHFGPEEAW      1 - 70
RLALSTFERINRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLM     71 - 140
EDRNARLGECVNLSHRYTRLLLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPP    141 - 210
RTVVMQGAAGIGKSMLAHKVMLDWADGKLFQGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQ    211 - 280
ELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPTELLLNSLIRKKLLPELSLLITTRPTALEKL    281 - 350
HRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTMCFVPLVCWVVCTCLQQQLEG    351 - 420
GGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQDLRKHGLDGED    421 - 490
VSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTS    491 - 560
RFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQAL    561 - 630
SHFQVIVVSNIASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLPERTVLLDA    631 - 700
YSEHLAAALCTNPNLIELSLYRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANK    701 - 770
NLTRMDLSGNGVGFPGMMLLCEGLRHPQCRLQMIQLRKCQLESGACQEMASVLGTNPHLVELDLTGNALE    771 - 840
DLGLRLLCQGLRHPVCRLRTLWLKICRLTAAACDELASTLSVNQSLRELDLSLNELGDLGVLLLCEGLRH    841 - 910
PTCKLQTLRLGICRLGSAACEGLSVVLQANHNLRELDLSFNDLGDWGLWLLAEGLQHPACRLQKLWLDSC    911 - 980
GLTAKACENLYFTLGINQTLTDLYLTNNALGDTGVRLLCKRLSHPGCKLRVLWLFGMDLNKMTHSRLAAL    981 - 1050
RVTKPYLDIGC                                                              1051 - 1061
//

Text Mined References (34)

PMID Year Title
26763980 2016 Beyond the inflammasome: regulatory NOD-like receptor modulation of the host immune response following virus exposure.
26329693 2015 Desflurane preconditioning protects human umbilical vein endothelial cells against anoxia/reoxygenation by upregulating NLRP12 and inhibiting non-canonical nuclear factor-?B signaling.
26122175 2015 Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
25249449 2014 The multifaceted nature of NLRP12.
25064839 2014 Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency.
24453977 2014 Malaria-induced NLRP12/NLRP3-dependent caspase-1 activation mediates inflammation and hypersensitivity to bacterial superinfection.
24338634 2014 Role of Nlrp6 and Nlrp12 in the maintenance of intestinal homeostasis.
24064030 Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series.
22427013 2012 The rhapsody of NLRPs: master players of inflammation...and a lot more.
21978668 2011 The NLRP12 pyrin domain: structure, dynamics, and functional insights.
21538323 2011 Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.
21360512 2011 Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.
21048031 2011 Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20403135 2010 The genetics of NOD-like receptors in Crohn's disease.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19337385 2009 Evaluation of Nod-like receptor (NLR) effector domain interactions.
19234190 2009 Blimp-1/PRDM1 mediates transcriptional suppression of the NLR gene NLRP12/Monarch-1.
18263805 2008 Inflammasome mRNA expression in human monocytes during early septic shock.
18230725 2008 Mutations in NALP12 cause hereditary periodic fever syndromes.
18160710 2008 ATP binding by monarch-1/NLRP12 is critical for its inhibitory function.
17947705 2007 Heat shock protein 90 associates with monarch-1 and regulates its ability to promote degradation of NF-kappaB-inducing kinase.
17620097 2007 Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis.
17237370 2007 Monarch-1 suppresses non-canonical NF-kappaB activation and p52-dependent chemokine expression in monocytes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16203735 2005 The CATERPILLER protein monarch-1 is an antagonist of toll-like receptor-, tumor necrosis factor alpha-, and Mycobacterium tuberculosis-induced pro-inflammatory signals.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057824 2004 The DNA sequence and biology of human chromosome 19.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12759408 2003 Cutting edge: Monarch-1: a pyrin/nucleotide-binding domain/leucine-rich repeat protein that controls classical and nonclassical MHC class I genes.
12563287 2003 NALPs: a novel protein family involved in inflammation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12019269 2002 PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing.
11167794 2001 Identification and characterization of a novel gene that is upregulated in leukaemia cells by nitric oxide.