NLRP12 (NLR family pyrin domain containing 12)

2015-02-01  

Identity

HGNC
LOCATION
19q13.42
LOCUSID
ALIAS
CLR19.3,FCAS2,NALP12,PAN6,PYPAF7,RNO,RNO2

Other Information

Locus ID:

NCBI: 91662
MIM: 609648
HGNC: 22938
Ensembl: ENSG00000142405

Variants:

dbSNP: 91662
ClinVar: 91662
TCGA: ENSG00000142405
COSMIC: NLRP12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142405ENST00000324134P59046
ENSG00000142405ENST00000345770A0A0C4DH17
ENSG00000142405ENST00000391772A0A0C4DFY3
ENSG00000142405ENST00000391773P59046
ENSG00000142405ENST00000391775P59046

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
120192692002PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing.119
162037352005The CATERPILLER protein monarch-1 is an antagonist of toll-like receptor-, tumor necrosis factor alpha-, and Mycobacterium tuberculosis-induced pro-inflammatory signals.87
182307252008Mutations in NALP12 cause hereditary periodic fever syndromes.86
172373702007Monarch-1 suppresses non-canonical NF-kappaB activation and p52-dependent chemokine expression in monocytes.85
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
244539772014Malaria-induced NLRP12/NLRP3-dependent caspase-1 activation mediates inflammation and hypersensitivity to bacterial superinfection.56
181607102008ATP binding by monarch-1/NLRP12 is critical for its inhibitory function.45
182638052008Inflammasome mRNA expression in human monocytes during early septic shock.39
213605122011Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.39
127594082003Cutting edge: Monarch-1: a pyrin/nucleotide-binding domain/leucine-rich repeat protein that controls classical and nonclassical MHC class I genes.38

Citation

Dessen P

NLRP12 (NLR family pyrin domain containing 12)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/54969/nlrp12