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NLRP6 (NLR family pyrin domain containing 6)

Identity

Other aliasAVR
CLR11.4
NALP6
NAVR
NAVR/AVR
PAN3
PYPAF5
HGNC (Hugo) NLRP6
LocusID (NCBI) 171389
Atlas_Id 57174
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 278570 and ends at 285304 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)NLRP6   22944
Cards
Entrez_Gene (NCBI)NLRP6  171389  NLR family pyrin domain containing 6
AliasesAVR; CLR11.4; NALP6; NAVR; 
NAVR/AVR; PAN3; PYPAF5
GeneCards (Weizmann)NLRP6
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr11:278570-285304 [Contig_View]  NLRP6 [Vega]
TCGA cBioPortalNLRP6
AceView (NCBI)NLRP6
Genatlas (Paris)NLRP6
WikiGenes171389
SOURCE (Princeton)NLRP6
Genetics Home Reference (NIH)NLRP6
Genomic and cartography
GoldenPath hg38 (UCSC)NLRP6  -     chr11:278570-285304 +  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NLRP6  -     11p15.5   [Description]    (hg19-Feb_2009)
EnsemblNLRP6 - 11p15.5 [CytoView hg19]  NLRP6 - 11p15.5 [CytoView hg38]
Mapping of homologs : NCBINLRP6 [Mapview hg19]  NLRP6 [Mapview hg38]
OMIM609650   
Gene and transcription
Genbank (Entrez)AF479748 AK292668 AY154461 CD636365
RefSeq transcript (Entrez)NM_001276700 NM_138329
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NLRP6
Cluster EST : UnigeneHs.352611 [ NCBI ]
CGAP (NCI)Hs.352611
Gene ExpressionNLRP6 [ NCBI-GEO ]   NLRP6 [ EBI - ARRAY_EXPRESS ]   NLRP6 [ SEEK ]   NLRP6 [ MEM ]
Gene Expression Viewer (FireBrowse)NLRP6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)171389
GTEX Portal (Tissue expression)NLRP6
Protein : pattern, domain, 3D structure
UniProt/SwissProtP59044   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP59044  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP59044
Splice isoforms : SwissVarP59044
PhosPhoSitePlusP59044
Domaine pattern : Prosite (Expaxy)DAPIN (PS50824)    NACHT (PS50837)   
Domains : Interpro (EBI)DAPIN    DEATH-like_dom    L_dom-like    NACHT_NTPase    P-loop_NTPase   
Domain families : Pfam (Sanger)PYRIN (PF02758)   
Domain families : Pfam (NCBI)pfam02758   
Domain families : Smart (EMBL)PYRIN (SM01289)  
Conserved Domain (NCBI)NLRP6
DMDM Disease mutations171389
Blocks (Seattle)NLRP6
SuperfamilyP59044
Peptide AtlasP59044
IPIIPI00168279   IPI00975803   
Protein Interaction databases
DIP (DOE-UCLA)P59044
IntAct (EBI)P59044
BioGRIDNLRP6
STRING (EMBL)NLRP6
ZODIACNLRP6
Ontologies - Pathways
QuickGOP59044
Ontology : AmiGOnegative regulation of inflammatory response to antigenic stimulus  vasopressin receptor activity  ATP binding  plasma membrane  inflammatory response  G-protein coupled receptor signaling pathway  response to bacterium  regulation of autophagy  nuclear membrane  negative regulation of toll-like receptor signaling pathway  wound healing  negative regulation of I-kappaB kinase/NF-kappaB signaling  innate immune response  regulation of inflammatory response  inflammasome complex  regulation of mucus secretion  negative regulation of ERK1 and ERK2 cascade  
Ontology : EGO-EBInegative regulation of inflammatory response to antigenic stimulus  vasopressin receptor activity  ATP binding  plasma membrane  inflammatory response  G-protein coupled receptor signaling pathway  response to bacterium  regulation of autophagy  nuclear membrane  negative regulation of toll-like receptor signaling pathway  wound healing  negative regulation of I-kappaB kinase/NF-kappaB signaling  innate immune response  regulation of inflammatory response  inflammasome complex  regulation of mucus secretion  negative regulation of ERK1 and ERK2 cascade  
NDEx NetworkNLRP6
Atlas of Cancer Signalling NetworkNLRP6
Wikipedia pathwaysNLRP6
Orthology - Evolution
OrthoDB171389
Phylogenetic Trees/Animal Genes : TreeFamNLRP6
HOVERGENP59044
HOGENOMP59044
Homologs : HomoloGeneNLRP6
Homology/Alignments : Family Browser (UCSC)NLRP6
Gene fusions - Rearrangements
Tumor Fusion PortalNLRP6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNLRP6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NLRP6
dbVarNLRP6
ClinVarNLRP6
1000_GenomesNLRP6 
Exome Variant ServerNLRP6
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP171389
Genomic Variants (DGV)NLRP6 [DGVbeta]
DECIPHERNLRP6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNLRP6 
Mutations
ICGC Data PortalNLRP6 
TCGA Data PortalNLRP6 
Broad Tumor PortalNLRP6
OASIS PortalNLRP6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNLRP6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNLRP6
BioMutasearch NLRP6
DgiDB (Drug Gene Interaction Database)NLRP6
DoCM (Curated mutations)NLRP6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NLRP6 (select a term)
intoGenNLRP6
Cancer3DNLRP6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609650   
Orphanet
DisGeNETNLRP6
MedgenNLRP6
Genetic Testing Registry NLRP6
NextProtP59044 [Medical]
TSGene171389
GENETestsNLRP6
Target ValidationNLRP6
Huge Navigator NLRP6 [HugePedia]
snp3D : Map Gene to Disease171389
BioCentury BCIQNLRP6
ClinGenNLRP6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD171389
Chemical/Pharm GKB GenePA162398002
Clinical trialNLRP6
Miscellaneous
canSAR (ICR)NLRP6 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNLRP6
EVEXNLRP6
GoPubMedNLRP6
iHOPNLRP6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 20:49:53 CET 2017

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