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NLRP2 (NLR family pyrin domain containing 2)

Identity

Alias_namesleucine rich repeat and pyrin domain containing 2
NALP2
Alias_symbol (synonym)FLJ20510
PYPAF2
NBS1
PAN1
CLR19.9
Other alias
HGNC (Hugo) NLRP2
LocusID (NCBI) 55655
Atlas_Id 47654
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 54965279 and ends at 55001142 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RUNX1 (21q22.12) / NLRP2 (19q13.42)

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)NLRP2   22948
Cards
Entrez_Gene (NCBI)NLRP2  55655  NLR family pyrin domain containing 2
AliasesCLR19.9; NALP2; NBS1; PAN1; 
PYPAF2
GeneCards (Weizmann)NLRP2
Ensembl hg19 (Hinxton)ENSG00000022556 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000022556 [Gene_View]  chr19:54965279-55001142 [Contig_View]  NLRP2 [Vega]
ICGC DataPortalENSG00000022556
TCGA cBioPortalNLRP2
AceView (NCBI)NLRP2
Genatlas (Paris)NLRP2
WikiGenes55655
SOURCE (Princeton)NLRP2
Genetics Home Reference (NIH)NLRP2
Genomic and cartography
GoldenPath hg38 (UCSC)NLRP2  -     chr19:54965279-55001142 +  19q13.42   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NLRP2  -     19q13.42   [Description]    (hg19-Feb_2009)
EnsemblNLRP2 - 19q13.42 [CytoView hg19]  NLRP2 - 19q13.42 [CytoView hg38]
Mapping of homologs : NCBINLRP2 [Mapview hg19]  NLRP2 [Mapview hg38]
OMIM609364   
Gene and transcription
Genbank (Entrez)AB209300 AF269288 AF298547 AF310106 AF464764
RefSeq transcript (Entrez)NM_001174081 NM_001174082 NM_001174083 NM_001348003 NM_017852
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_052633 NT_187693 NW_003571054 NW_003571055 NW_003571056 NW_003571057 NW_003571058 NW_003571059 NW_003571060 NW_003571061
Consensus coding sequences : CCDS (NCBI)NLRP2
Cluster EST : UnigeneHs.369279 [ NCBI ]
CGAP (NCI)Hs.369279
Alternative Splicing GalleryENSG00000022556
Gene ExpressionNLRP2 [ NCBI-GEO ]   NLRP2 [ EBI - ARRAY_EXPRESS ]   NLRP2 [ SEEK ]   NLRP2 [ MEM ]
Gene Expression Viewer (FireBrowse)NLRP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55655
GTEX Portal (Tissue expression)NLRP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NX02   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NX02  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NX02
Splice isoforms : SwissVarQ9NX02
PhosPhoSitePlusQ9NX02
Domaine pattern : Prosite (Expaxy)DAPIN (PS50824)    NACHT (PS50837)   
Domains : Interpro (EBI)DAPIN    DEATH-like_dom    L_dom-like    Leu-rich_rpt    NACHT_NTPase    P-loop_NTPase   
Domain families : Pfam (Sanger)LRR_6 (PF13516)    PYRIN (PF02758)   
Domain families : Pfam (NCBI)pfam13516    pfam02758   
Domain families : Smart (EMBL)PYRIN (SM01289)  
Conserved Domain (NCBI)NLRP2
DMDM Disease mutations55655
Blocks (Seattle)NLRP2
SuperfamilyQ9NX02
Human Protein AtlasENSG00000022556
Peptide AtlasQ9NX02
HPRD14805
IPIIPI00016480   IPI00218560   IPI00719715   IPI00719706   IPI00383170   IPI00894352   IPI01009330   IPI00894092   IPI01010153   IPI01018900   IPI01015956   IPI00956334   IPI01013363   IPI01012958   IPI01014358   
Protein Interaction databases
DIP (DOE-UCLA)Q9NX02
IntAct (EBI)Q9NX02
FunCoupENSG00000022556
BioGRIDNLRP2
STRING (EMBL)NLRP2
ZODIACNLRP2
Ontologies - Pathways
QuickGOQ9NX02
Ontology : AmiGOnuclear chromosome, telomeric region  protein binding  ATP binding  cytoplasm  Golgi apparatus  cytosol  apoptotic process  inflammatory response  Pyrin domain binding  intracellular membrane-bounded organelle  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  innate immune response  positive regulation of interleukin-1 beta secretion  
Ontology : EGO-EBInuclear chromosome, telomeric region  protein binding  ATP binding  cytoplasm  Golgi apparatus  cytosol  apoptotic process  inflammatory response  Pyrin domain binding  intracellular membrane-bounded organelle  positive regulation of cysteine-type endopeptidase activity involved in apoptotic process  innate immune response  positive regulation of interleukin-1 beta secretion  
NDEx NetworkNLRP2
Atlas of Cancer Signalling NetworkNLRP2
Wikipedia pathwaysNLRP2
Orthology - Evolution
OrthoDB55655
GeneTree (enSembl)ENSG00000022556
Phylogenetic Trees/Animal Genes : TreeFamNLRP2
HOVERGENQ9NX02
HOGENOMQ9NX02
Homologs : HomoloGeneNLRP2
Homology/Alignments : Family Browser (UCSC)NLRP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNLRP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NLRP2
dbVarNLRP2
ClinVarNLRP2
1000_GenomesNLRP2 
Exome Variant ServerNLRP2
ExAC (Exome Aggregation Consortium)NLRP2 (select the gene name)
Genetic variants : HAPMAP55655
Genomic Variants (DGV)NLRP2 [DGVbeta]
DECIPHERNLRP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNLRP2 
Mutations
ICGC Data PortalNLRP2 
TCGA Data PortalNLRP2 
Broad Tumor PortalNLRP2
OASIS PortalNLRP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNLRP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNLRP2
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
BioMutasearch NLRP2
DgiDB (Drug Gene Interaction Database)NLRP2
DoCM (Curated mutations)NLRP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NLRP2 (select a term)
intoGenNLRP2
Cancer3DNLRP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609364   
Orphanet
MedgenNLRP2
Genetic Testing Registry NLRP2
NextProtQ9NX02 [Medical]
TSGene55655
GENETestsNLRP2
Target ValidationNLRP2
Huge Navigator NLRP2 [HugePedia]
snp3D : Map Gene to Disease55655
BioCentury BCIQNLRP2
ClinGenNLRP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55655
Chemical/Pharm GKB GenePA162397946
Clinical trialNLRP2
Miscellaneous
canSAR (ICR)NLRP2 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNLRP2
EVEXNLRP2
GoPubMedNLRP2
iHOPNLRP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:22:16 CEST 2017

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