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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NLRP12 Gene

protein-coding   GIFtS: 60
GCID: GC19M054296

NLR Family, Pyrin Domain Containing 12

(Previous names: NACHT, leucine rich repeat and PYD containing 12)
(Previous symbol: NALP12)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NLR Family, Pyrin Domain Containing 121 2     Nucleotide-Binding Oligomerization Domain1
NALP121 2 3 5     CLR19.32
PYPAF72 3 5     PAN62
RNO2 3 5     RNO22
Regulated By Nitric Oxide2 3     Monarch 12
PYRIN-Containing APAF1-Like Protein 72 3     NACHT, LRR And PYD Domains-Containing Protein 122
FCAS22 5     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin
Domain Containing 122
Leucine Rich Repeat And Pyrin Domain Containing 121     Monarch-13
NACHT, Leucine Rich Repeat And PYD Containing 121     

External Ids:    HGNC: 229381   Entrez Gene: 916622   Ensembl: ENSG000001424057   OMIM: 6096485   UniProtKB: P590463   

Export aliases for NLRP12 gene to outside databases

Previous GC identifers: GC19M058989 GC19M050616


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NLRP12 Gene:
This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains
an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat
region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated
monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Mar 2013)

GeneCards Summary for NLRP12 Gene: 
NLRP12 (NLR family, pyrin domain containing 12) is a protein-coding gene. Diseases associated with NLRP12 include familial cold autoinflammatory syndrome 2, and familial cold autoinflammatory syndrome, and among its related super-pathways are Toll-Like receptor Signaling Pathways and NOD-like receptor signaling pathway. GO annotations related to this gene include cysteine-type endopeptidase activator activity involved in apoptotic process and ATP binding. An important paralog of this gene is NLRP4.

UniProtKB/Swiss-Prot: NAL12_HUMAN, P59046
Function: May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK

Gene Wiki entry for NLRP12 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NLRP12 gene promoter:
         STAT5B   USF1   AML1a   CUTL1   STAT5A   Arnt   Max   USF-1   En-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNLRP12 promoter sequence
   Search SABiosciences Chromatin IP Primers for NLRP12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NLRP12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.42   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.42

NLRP12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP12 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M054296:  view genomic region     (about GC identifiers)

Start:
54,296,838 bp from pter      End:
54,327,648 bp from pter
Size:
30,811 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NAL12_HUMAN, P59046 (See protein sequence)
Recommended Name: NACHT, LRR and PYD domains-containing protein 12  
Size: 1061 amino acids; 120173 Da
Subunit: Binds to ASC with its DAPIN domain. Interacts with FAF1 UBA domain via its DAPIN domain
Subcellular location: Cytoplasm
1 PDB 3D structure from and Proteopedia for NLRP12:
2L6A (3D)    
Secondary accessions: Q8NEU4 Q9BY26
Alternative splicing: 5 isoforms:  P59046-1   P59046-2   P59046-3   P59046-4   P59046-5   

Explore the universe of human proteins at neXtProt for NLRP12: NX_P59046

Explore proteomics data for NLRP12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P59046

  • NLRP12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NLRP12 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001264055.1  NP_001264058.1  NP_653288.1  

    ENSEMBL proteins: 
     ENSP00000319377   ENSP00000375655   ENSP00000375653   ENSP00000341428   ENSP00000375652  
     ENSP00000438030   ENSP00000340473   ENSP00000346231  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NLRP12 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12019269

    NLRP12 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    NLR: Nucleotide-binding domain and leucine rich repeat containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: NLRP12 
    NOD-like receptor family

    4 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR011029 DEATH-like_dom
     IPR007111 NACHT_NTPase
     IPR004020 DAPIN

    Graphical View of Domain Structure for InterPro Entry P59046

    ProtoNet protein and cluster: P59046

    3 Blocks protein domains:
    IPB001611 Leucine-rich repeat signature
    IPB003590 Leucine-rich repeat
    IPB004020 Pyrin domain


    UniProtKB/Swiss-Prot: NAL12_HUMAN, P59046
    Similarity: Belongs to the NLRP family
    Similarity: Contains 1 DAPIN domain
    Similarity: Contains 8 LRR (leucine-rich) repeats
    Similarity: Contains 1 NACHT domain


    NLRP12 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NAL12_HUMAN, P59046
    Function: May mediate activation of CASP1 via ASC and promote activation of NF-kappa-B via IKK
    Induction: By nitric oxide and DMSO in HL-60 cells, an acute myeloid leukemia cell line

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12019269
    GO:0005524ATP binding IEA--
    GO:0008656cysteine-type endopeptidase activator activity involved in apoptotic process NAS12019269
         
    NLRP12 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nlrp12):
     cellular  digestive/alimentary  hematopoietic system  homeostasis/metabolism  immune system 
     tumorigenesis 

    NLRP12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NLRP12: Nlrp12tm1Tdk Nlrp12tm1Jpyt

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NLRP12 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRP12


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NLRP12 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Toll-Like receptor Signaling Pathways
    NOD-like Receptor Signaling Pathways0.59
    2Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    NOD pathway0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for NLRP12
        NOD-like Receptor Signaling Pathways


    1 BioSystems Pathway for NLRP12
        NOD pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NLRP12

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/18 Interacting proteins for NLRP12 (P590462, 3 ENSP000003193774) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    ENSG00000232804P081073I2D: score=1 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process NAS12019269
    GO:0007165signal transduction NAS12019269
    GO:0008588release of cytoplasmic sequestered NF-kappaB IDA12019269
    GO:0009968negative regulation of signal transduction IDA16203735
    GO:0031953negative regulation of protein autophosphorylation IDA16203735

    NLRP12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NLRP12 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NLRP12 (NAL12)

    8 Novoseek inferred chemical compound relationships for NLRP12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 61.9 16 11007795 (2), 9806887 (2), 12437997 (1), 18973232 (1) (see all 14)
    leucine 45.6 15 8514855 (2), 7758824 (2), 15153572 (1), 9681719 (1) (see all 9)
    cysteine 34.1 2 9642227 (1), 18343406 (1)
    glycosaminoglycan 17.7 1 11603505 (1)
    estrogen 0 4 20014005 (1), 15579769 (1), 17545633 (1)
    arginine 0 3 11007795 (2), 11731272 (1)
    glutamate 0 3 20014005 (1), 15579769 (1), 17545633 (1)
    serine 0 1 8988362 (1)

    Search CenterWatch for drugs/clinical trials and news about NLRP12 / NAL12

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NLRP12 gene (4 alternative transcripts): 
    NM_001277126.1  NM_001277129.1  NM_144687.3  NM_033297.2  

    Unigene Cluster for NLRP12:

    NLR family, pyrin domain containing 12
    Hs.631573  [show with all ESTs]
    Unigene Representative Sequence: AY154467
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324134(uc002qch.4 uc002qci.4 uc002qcj.4) ENST00000391775
    ENST00000492915 ENST00000391773 ENST00000345770 ENST00000391772 ENST00000535162
    ENST00000351894(uc002qck.4) ENST00000354278(uc010eqx.3)
    miRNA
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    Additional mRNA sequence: 

    AF231021.1 AK095460.1 AK290772.1 AY095146.1 AY116204.1 AY116205.1 AY116206.1 AY116207.1 
    AY154467.1 BC028069.1 

    3 DOTS entries:

    DT.95084512  DT.100024228  DT.95248774 

    23 AceView cDNA sequences:

    BC028069 BQ920369 AY116205 AY116207 AY116204 NM_144687 BI519910 BI911853 
    AK095460 AF231021 AY095146 CA436253 BQ900330 NM_033297 BQ710940 AA514928 
    AY154467 BQ957631 AY116206 AA358140 AW956628 AW817041 BM043219 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NLRP12    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
    SP1:                                                                              
    SP2:                                                                              
    SP3:                                                        -                     
    SP4:                                                  -     -                     


    ECgene alternative splicing isoforms for NLRP12

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NLRP12 expression in normal human tissues (normalized intensities)      NLRP12 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGTAATCC
    NLRP12 Expression
    About this image


    NLRP12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             neutrophils   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)
     
     Endoderm (Gastrulation Derivatives)
             Definitive endoderm-like cells ( Generation of mesendoderm and definitive endoderm...

    See NLRP12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NLRP12

    SOURCE GeneReport for Unigene cluster: Hs.631573

    UniProtKB/Swiss-Prot: NAL12_HUMAN, P59046
    Tissue specificity: Detected only in peripheral blood leukocytes, predominantly in eosinophils and granulocytes,
    and at lower levels in monocytes

        SABiosciences Expression via Pathway-Focused PCR Arrays including NLRP12: 
              Inflammasomes in human mouse rat
              Apoptosis 384HT in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRP12

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for NLRP12 gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nlrp121 , 5 NLR family, pyrin domain containing 121, 5 76.38(n)1
    73.06(a)1
      7 (1.88 cM)5
    3784251  NM_001033431.11  NP_001028603.11 
     32215105 


    ENSEMBL Gene Tree for NLRP12 (if available)
    TreeFam Gene Tree for NLRP12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NLRP12 gene
    NLRP42  NLRP132  NLRP92  NLRC32  NLRP62  NLRP32  NLRP142  NLRP72  
    NLRP112  NLRP102  NLRP22  NLRP52  NLRP82  
    14 SIMAP similar genes for NLRP12 using alignment to 5 protein entries:     NAL12_HUMAN (see all proteins):
    CIAS1    NLRP3    RNH1    NLRP1    PP1579    NLRP14
    NLRP10    NLRP13    NLRP9    NLRP2    NLRP6    NLRP4
    NLRP5    NLRP7

    NLRP12 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1112 SNPs in NLRP12 are shown (see all 1112)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048955641,2
    C,Fpathogenic154474695(-) TCATCC/TGAGTT 8 R * stg11Minor allele frequency- T:0.00NA 4520
    rs1048955701,2
    C,Funtested154462232(-) ACCTCC/AGGGAG 7 /R syn1 int12Minor allele frequency- A:0.00NA EU 5813
    rs1048955691,2
    C,Funtested154462278(-) TCTGCC/TGCCTG 7 A syn1 int13Minor allele frequency- T:0.02WA NA EU 5689
    rs1048955681,2
    C,Funtested154465173(-) TCGGGG/CTGCTG 8 /L /V mis11Minor allele frequency- C:0.00NA 4542
    rs1048955671,2
    C,Funtested154471346(-) GTGGTC/TCCCAC 4 -- int13Minor allele frequency- T:0.08CSA WA 122
    rs1048955661,2
    Cuntested154474202(-) GCCGGG/CGGCCC 8 /A /G mis11Minor allele frequency- C:0.00EU 1323
    rs348608411,2
    C,F--54296979(+) GACTAC/-AGGTG 3 -- ut313Minor allele frequency- -:0.50NA CSA 6
    rs113406521,2
    C,F--54297773(+) TTTCAC/-CCGTG 3 -- int13Minor allele frequency- -:0.33NA CSA 6
    rs1441069891,2
    C--54297883(+) CATAA-/TTTATC 3 -- int10--------
    rs742096181,2
    C--54297920(-) GAAAG-/AAAAAA 3 -- int11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for NLRP12 (54296838 - 54327648 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NLRP12:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2666040CNV Deletion23128226
    esv2718812CNV Deletion23290073
    esv1103808CNV Insertion17803354
    nsv912388CNV Gain21882294
    nsv458781CNV Gain19166990
    dgv3999n71CNV Gain21882294


    Human Gene Mutation Database (HGMD): NLRP12
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609648   
    OMIM disorders: 611762  
    UniProtKB/Swiss-Prot: NAL12_HUMAN, P59046
  • Familial cold autoinflammatory syndrome 2 (FCAS2) [MIM:611762]: A rare autosomal dominant systemic
    inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias,
    myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/31 diseases for NLRP12 (see all 31):    About MalaCards
    familial cold autoinflammatory syndrome 2    familial cold autoinflammatory syndrome    x-linked congenital stationary night blindness    progeria
    syphilis    congenital stationary night blindness    night blindness    blindness
    gastroenteritis    schistosomiasis    metabolic acidosis    temporal lobe epilepsy
    hepatoblastoma    atopic dermatitis    malaria    conjunctivitis
    nasopharyngitis    osteoarthritis    dermatitis    crohn's disease


    NLRP12 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for NLRP12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    csnb1 74.8 1 16553780 (1)
    collagen fibril 61.2 1 14660626 (1)
    night blindness, congenital stationary 59.2 1 11062472 (1)
    tumors 4.77 1 15579769 (1)

    Genetic Association Database (GAD): NLRP12
    Human Genome Epidemiology (HuGE) Navigator: NLRP12 (6 documents)

    Export disorders for NLRP12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NLRP12 gene, integrated from 9 sources (see all 122):
    (articles sorted by number of sources associating them with NLRP12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NALPs: a novel protein family involved in inflammation. (PubMed id 12563287)1, 2, 3 Tschopp J....Burns K. (2003)
    2. PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing. (PubMed id 12019269)1, 2, 3 Wang L.... Bertin J. (2002)
    3. The NLRP12 pyrin domain: structure, dynamics, and fun ctional insights. (PubMed id 21978668)1, 2 Pinheiro A.S....Peti W. (2011)
    4. The genetics of NOD-like receptors in Crohn's disease . (PubMed id 20403135)1, 4 Cummings J.R....Jewell D.P. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. ATP binding by monarch-1/NLRP12 is critical for its inhibitory function. (PubMed id 18160710)1, 2 Ye Z....Ting J.P. (2008)
    7. Mutations in NALP12 cause hereditary periodic fever syndromes. (PubMed id 18230725)1, 2 Jeru I....Amselem S. (2008)
    8. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis. (PubMed id 17620097)1, 4 Macaluso F....Hoffjan S. (2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Identification and characterization of a novel gene that is upregulated in leukaemia cells by nitric oxide. (PubMed id 11167794)1, 2 Shami P.J.... Parker C.J. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 91662 HGNC: 22938 AceView: NALP12 Ensembl:ENSG00000142405 euGenes: HUgn91662
    ECgene: NLRP12 H-InvDB: NLRP12

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NLRP12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NLRP12 gene:
    Search GeneIP for patents involving NLRP12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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