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NLRP12 (NLR family, pyrin domain containing 12)

Identity

Alias_namesleucine rich repeat and pyrin domain containing 12
NALP12
Alias_symbol (synonym)RNO2
PYPAF7
Monarch1
PAN6
CLR19.3
Other aliasFCAS2
RNO
HGNC (Hugo) NLRP12
LocusID (NCBI) 91662
Atlas_Id 54969
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 54296855 and ends at 54327657 bp from pter ( according to hg19-Feb_2009)

Note

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NLRP12   22938
LRG (Locus Reference Genomic)LRG_181
Cards
Entrez_Gene (NCBI)NLRP12  91662  NLR family, pyrin domain containing 12
AliasesCLR19.3; FCAS2; NALP12; PAN6; 
PYPAF7; RNO; RNO2
GeneCards (Weizmann)NLRP12
Ensembl hg19 (Hinxton)ENSG00000142405 [Gene_View]  chr19:54296855-54327657 [Contig_View]  NLRP12 [Vega]
Ensembl hg38 (Hinxton)ENSG00000142405 [Gene_View]  chr19:54296855-54327657 [Contig_View]  NLRP12 [Vega]
ICGC DataPortalENSG00000142405
TCGA cBioPortalNLRP12
AceView (NCBI)NLRP12
Genatlas (Paris)NLRP12
WikiGenes91662
SOURCE (Princeton)NLRP12
Genetics Home Reference (NIH)NLRP12
Genomic and cartography
GoldenPath hg19 (UCSC)NLRP12  -     chr19:54296855-54327657 -  19q13.42   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NLRP12  -     19q13.42   [Description]    (hg38-Dec_2013)
EnsemblNLRP12 - 19q13.42 [CytoView hg19]  NLRP12 - 19q13.42 [CytoView hg38]
Mapping of homologs : NCBINLRP12 [Mapview hg19]  NLRP12 [Mapview hg38]
OMIM609648   611762   
Gene and transcription
Genbank (Entrez)AF231021 AK095460 AK290772 AY095146 AY116204
RefSeq transcript (Entrez)NM_001277126 NM_001277129 NM_033297 NM_144687
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_008651 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)NLRP12
Cluster EST : UnigeneHs.631573 [ NCBI ]
CGAP (NCI)Hs.631573
Alternative Splicing GalleryENSG00000142405
Gene ExpressionNLRP12 [ NCBI-GEO ]   NLRP12 [ EBI - ARRAY_EXPRESS ]   NLRP12 [ SEEK ]   NLRP12 [ MEM ]
Gene Expression Viewer (FireBrowse)NLRP12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91662
GTEX Portal (Tissue expression)NLRP12
Protein : pattern, domain, 3D structure
UniProt/SwissProtP59046   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP59046  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP59046
Splice isoforms : SwissVarP59046
PhosPhoSitePlusP59046
Domaine pattern : Prosite (Expaxy)DAPIN (PS50824)    LRR (PS51450)    NACHT (PS50837)   
Domains : Interpro (EBI)DAPIN    DEATH-like_dom    L_dom-like    Leu-rich_rpt    NACHT_NTPase    NATCH-assoc    P-loop_NTPase   
Domain families : Pfam (Sanger)FISNA (PF14484)    PYRIN (PF02758)   
Domain families : Pfam (NCBI)pfam14484    pfam02758   
Conserved Domain (NCBI)NLRP12
DMDM Disease mutations91662
Blocks (Seattle)NLRP12
PDB (SRS)2L6A    4XHS   
PDB (PDBSum)2L6A    4XHS   
PDB (IMB)2L6A    4XHS   
PDB (RSDB)2L6A    4XHS   
Structural Biology KnowledgeBase2L6A    4XHS   
SCOP (Structural Classification of Proteins)2L6A    4XHS   
CATH (Classification of proteins structures)2L6A    4XHS   
SuperfamilyP59046
Human Protein AtlasENSG00000142405
Peptide AtlasP59046
HPRD14803
IPIIPI00306878   IPI00221203   IPI00221204   IPI00020916   IPI00953005   IPI00644279   IPI00745498   IPI00647656   IPI00413241   
Protein Interaction databases
DIP (DOE-UCLA)P59046
IntAct (EBI)P59046
FunCoupENSG00000142405
BioGRIDNLRP12
STRING (EMBL)NLRP12
ZODIACNLRP12
Ontologies - Pathways
QuickGOP59046
Ontology : AmiGOprotein binding  ATP binding  nucleus  cytoplasm  activation of cysteine-type endopeptidase activity involved in apoptotic process  signal transduction  release of cytoplasmic sequestered NF-kappaB  cysteine-type endopeptidase activator activity involved in apoptotic process  negative regulation of signal transduction  negative regulation of protein autophosphorylation  negative regulation of NF-kappaB transcription factor activity  dendritic cell migration  regulation of I-kappaB kinase/NF-kappaB signaling  negative regulation of I-kappaB kinase/NF-kappaB signaling  regulation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of MHC class I biosynthetic process  regulation of interleukin-18 biosynthetic process  negative regulation of interleukin-6 biosynthetic process  negative regulation of Toll signaling pathway  negative regulation of cytokine secretion  negative regulation of interleukin-1 secretion  positive regulation of interleukin-1 beta secretion  negative regulation of inflammatory response  positive regulation of inflammatory response  negative regulation of ERK1 and ERK2 cascade  cellular response to cytokine stimulus  negative regulation of NIK/NF-kappaB signaling  
Ontology : EGO-EBIprotein binding  ATP binding  nucleus  cytoplasm  activation of cysteine-type endopeptidase activity involved in apoptotic process  signal transduction  release of cytoplasmic sequestered NF-kappaB  cysteine-type endopeptidase activator activity involved in apoptotic process  negative regulation of signal transduction  negative regulation of protein autophosphorylation  negative regulation of NF-kappaB transcription factor activity  dendritic cell migration  regulation of I-kappaB kinase/NF-kappaB signaling  negative regulation of I-kappaB kinase/NF-kappaB signaling  regulation of cysteine-type endopeptidase activity involved in apoptotic process  positive regulation of MHC class I biosynthetic process  regulation of interleukin-18 biosynthetic process  negative regulation of interleukin-6 biosynthetic process  negative regulation of Toll signaling pathway  negative regulation of cytokine secretion  negative regulation of interleukin-1 secretion  positive regulation of interleukin-1 beta secretion  negative regulation of inflammatory response  positive regulation of inflammatory response  negative regulation of ERK1 and ERK2 cascade  cellular response to cytokine stimulus  negative regulation of NIK/NF-kappaB signaling  
NDEx NetworkNLRP12
Atlas of Cancer Signalling NetworkNLRP12
Wikipedia pathwaysNLRP12
Orthology - Evolution
OrthoDB91662
GeneTree (enSembl)ENSG00000142405
Phylogenetic Trees/Animal Genes : TreeFamNLRP12
HOVERGENP59046
HOGENOMP59046
Homologs : HomoloGeneNLRP12
Homology/Alignments : Family Browser (UCSC)NLRP12
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNLRP12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NLRP12
dbVarNLRP12
ClinVarNLRP12
1000_GenomesNLRP12 
Exome Variant ServerNLRP12
ExAC (Exome Aggregation Consortium)NLRP12 (select the gene name)
Genetic variants : HAPMAP91662
Genomic Variants (DGV)NLRP12 [DGVbeta]
DECIPHER (Syndromes)19:54296855-54327657  ENSG00000142405
CONAN: Copy Number AnalysisNLRP12 
Mutations
ICGC Data PortalNLRP12 
TCGA Data PortalNLRP12 
Broad Tumor PortalNLRP12
OASIS PortalNLRP12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNLRP12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNLRP12
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch NLRP12
DgiDB (Drug Gene Interaction Database)NLRP12
DoCM (Curated mutations)NLRP12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NLRP12 (select a term)
intoGenNLRP12
Cancer3DNLRP12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609648    611762   
Orphanet19559   
MedgenNLRP12
Genetic Testing Registry NLRP12
NextProtP59046 [Medical]
TSGene91662
GENETestsNLRP12
Huge Navigator NLRP12 [HugePedia]
snp3D : Map Gene to Disease91662
BioCentury BCIQNLRP12
ClinGenNLRP12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD91662
Chemical/Pharm GKB GenePA162397866
Clinical trialNLRP12
Miscellaneous
canSAR (ICR)NLRP12 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNLRP12
EVEXNLRP12
GoPubMedNLRP12
iHOPNLRP12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:18:57 CET 2017

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