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NLRP12 Gene

protein-coding   GIFtS: 58
GCID: GC19M054296

NLR Family, Pyrin Domain Containing 12

(Previous names: NACHT, leucine rich repeat and PYD containing 12)
(Previous symbol: NALP12)
  See NLRP12-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include cysteine-type endopeptidase activator activity involved in apoptotic process. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   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 Chromatin IP Primers for NLRP12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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


See NLRP12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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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Cloud-Clone Corp. Proteins for NLRP12

 
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EMD Millipore Mono- and Polyclonal Antibodies for the study of NLRP12
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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
NLR: Nucleotide-binding domain and leucine rich repeat containing

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

5 InterPro protein domains:
 IPR007111 NACHT_NTPase
 IPR001611 Leu-rich_rpt
 IPR027417 P-loop_NTPase
 IPR004020 DAPIN
 IPR011029 DEATH-like_dom

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


Find genes that share domains with NLRP12           About GenesLikeMe


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    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
     
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Phenotypes:
     6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nlrp12):
 cellular  digestive/alimentary  hematopoietic system  homeostasis/metabolism  immune system 
 tumorigenesis 

Find genes that share phenotypes with NLRP12           About GenesLikeMe

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

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NLRP12
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NLRP12

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NLRP12
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NLRP12

miRNA
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GenScript: all cDNA clones in your preferred vector (see all 2): NLRP12 (NM_144687)
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRP12


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
NAL12_HUMAN, P59046: Cytoplasm
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
nucleus2
mitochondrion1
peroxisome1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IDA12019269

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(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for NLRP12 About    
See pathways by source

SuperPathContained pathways About
1NOD-like Receptor Signaling Pathways
NOD-like Receptor Signaling Pathways0.58
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


    Pathway & Disease-focused RT2 Profiler PCR Arrays including NLRP12: 
          Inflammasomes in human mouse rat
          Apoptosis 384HT in human mouse rat
          Inflammatory Response & Autoimmunity 384HT in human mouse rat

Interactions:

    GeneGlobe Interaction Network for NLRP12

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

Selected 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 
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Gene Ontology (GO): Selected biological process terms (see all 19):    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

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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)



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(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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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SwitchGear 3'UTR luciferase reporter plasmidNLRP12 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat NLRP12
Clone
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OriGene ORF clones in mouse, rat for NLRP12
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): NLRP12 (NM_144687)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for NLRP12
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NLRP12
Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NLRP12
  QuantiTect SYBR Green Assays in human, mouse, rat NLRP12
  QuantiFast Probe-based Assays in human, mouse, rat NLRP12

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:

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

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NLRP12 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 2) fully expand
 
 Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
         Human embryonic stem cells (family)
 
 Blood (Hematopoietic System)
         Granulocytes Peripheral Blood
NLRP12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NLRP12 Protein Expression

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

    Pathway & Disease-focused RT2 Profiler PCR Arrays including NLRP12: 
          Inflammasomes in human mouse rat
          Apoptosis 384HT in human mouse rat
          Inflammatory Response & Autoimmunity 384HT in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for NLRP12
OriGene qSTAR qPCR primer pairs in human, mouse for NLRP12
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NLRP12
QuantiTect SYBR Green Assays in human, mouse, rat NLRP12
QuantiFast Probe-based Assays in human, mouse, rat NLRP12
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)
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This gene was present in the common ancestor of chordates.

Orthologs for NLRP12 gene from Selected species (see all 10)    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 76.31(n)1
73.06(a)1
  7 (1.88 cM)5
3784251  NM_001033431.11  NP_001028603.11 
 32215105 
chicken
(Gallus gallus)
Aves --
Uncharacterized protein
34(a)
1 → many
5(47094-72756)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
34(a)
1 → many
1(77089333-77108440)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-66k16.26
CU693495.16
(see all 6)
Uncharacterized protein
(see all 6)
27(a)
24(a)
(see all 6)
many ↔ many
many ↔ many
(see all 6)
2(45509755-45512232) ENSDARG00000095634
2(43739588-43750519) ENSDARG00000088955


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)
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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

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(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for NLRP12 (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
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing NLRP12
DNA2.0 Custom Variant and Variant Library Synthesis for NLRP12

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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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

  • 3 diseases for NLRP12:    
    About MalaCards
    familial cold autoinflammatory syndrome 2    familial cold autoinflammatory syndrome    x-linked congenital stationary night blindness


    Find genes that share disorders with NLRP12           About GenesLikeMe

    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)
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    PubMed articles for NLRP12 gene, integrated from 10 sources (see all 123):
    (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. (Nat. Rev. Mol. Cell Biol. 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. (J. Biol. Chem. 2002)
    3. The NLRP12 pyrin domain: structure, dynamics, and functional insights. (PubMed id 21978668)1, 2 Pinheiro A.S.... Peti W. (J. Mol. Biol. 2011)
    4. The genetics of NOD-like receptors in Crohn's disease. (PubMed id 20403135)1, 4 Cummings J.R....Jewell D.P. (Tissue Antigens 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. ATP binding by monarch-1/NLRP12 is critical for its inhibitory function. (PubMed id 18160710)1, 2 Ye Z.... Ting J.P. (Mol. Cell. Biol. 2008)
    7. Mutations in NALP12 cause hereditary periodic fever syndromes. (PubMed id 18230725)1, 2 Jeru I....Amselem S. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    8. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis. (PubMed id 17620097)1, 4 Macaluso F....Hoffjan S. (Exp. Dermatol. 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. (Genome Res. 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. (Br. J. Haematol. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 91662 HGNC: 22938 AceView: NALP12 Ensembl:ENSG00000142405 euGenes: HUgn91662
    ECgene: NLRP12 H-InvDB: NLRP12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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