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NLRC5 Gene

protein-coding   GIFtS: 57
GCID: GC16P057023

NLR Family, CARD Domain Containing 5

  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)
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Aliases
NLR Family, CARD Domain Containing 51 2     Leucine Rich Repeat And CARD Domain Containing 51
NOD-Like Receptor C51 2     Nucleotide-Binding Oligomerization Domain1
Caterpiller Protein 16.12 3     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And CARD
Domain Containing 52
Nucleotide-Binding Oligomerization Domain Protein 42 3     Nucleotide-Binding Oligomerization Domains 272
CLR16.12 3     Protein NLRC52
NOD272 3     Nucleotide-Binding Oligomerization Domain Protein 273
NOD42 3     

External Ids:    HGNC: 299331   Entrez Gene: 841662   Ensembl: ENSG000001408537   OMIM: 6135375   UniProtKB: Q86WI33   

Export aliases for NLRC5 gene to outside databases

Previous GC identifers: GC16P055581 GC16P042892


(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 NLRC5 Gene:
This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in
cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation
of type I interferon signaling pathways. (provided by RefSeq, Oct 2011)

GeneCards Summary for NLRC5 Gene:
NLRC5 (NLR family, CARD domain containing 5) is a protein-coding gene. Diseases associated with NLRC5 include legionnaires' disease, and familial mediterranean fever. GO annotations related to this gene include RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is NOD2.

UniProtKB/Swiss-Prot: NLRC5_HUMAN, Q86WI3
Function: Probable regulator of the NF-kappa-B and type I interferon signaling pathways. May also regulate the
type II interferon signaling pathway. Plays a role in homeostatic control of innate immunity and in antiviral
defense mechanisms

Gene Wiki entry for NLRC5 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:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NLRC5 gene promoter:
         Max1   USF1   STAT1   HTF   STAT1beta   STAT1alpha   USF-1   Pax-4a   ATF6   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNLRC5 promoter sequence
   Search Chromatin IP Primers for NLRC5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NLRC5


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

Entrez Gene cytogenetic band: 16q13   Ensembl cytogenetic band:  16q13   HGNC cytogenetic band: 16q13

NLRC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRC5 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P057023:  view genomic region     (about GC identifiers)

Start:
57,023,397 bp from pter      End:
57,117,443 bp from pter
Size:
94,047 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NLRC5_HUMAN, Q86WI3 (See protein sequence)
Recommended Name: Protein NLRC5  
Size: 1866 amino acids; 204595 Da
Subunit: Interacts with CHUK and IKBKB; prevents CHUK and IKBKB phosphorylation and inhibits their kinase
activity. Interacts with DDX58 and IFIH1; blocks the interaction of MAVS to DDX58
Caution: Supposed to contain a CARD domain at the N-terminus (PubMed:20434986). However, this domain is not
detected by Pfam, PROSITE or SMART. Has a weak similarity with a DAPIN domain
Sequence caution: Sequence=BAB55096.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB55098.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB85008.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B5MEF1 C9JMD8 Q6P4A6 Q86VM7 Q8NF42 Q8TEE2 Q8TEJ1 Q969L7
Alternative splicing: 6 isoforms:  Q86WI3-1   Q86WI3-2   Q86WI3-3   Q86WI3-4   Q86WI3-5   Q86WI3-6   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for NLRC5: NX_Q86WI3

Explore proteomics data for NLRC5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys989, Lys1099, Lys1349
  • Modification sites at PhosphoSitePlus

  • See NLRC5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115582.4  
    ENSEMBL proteins: 
     ENSP00000441679   ENSP00000262510   ENSP00000439464   ENSP00000441311   ENSP00000441727  
     ENSP00000442906   ENSP00000443825   ENSP00000441597   ENSP00000440153   ENSP00000444773  
     ENSP00000438548   ENSP00000437583   ENSP00000440184   ENSP00000444960   ENSP00000308886  
     ENSP00000389739  
    Reactome Protein details: Q86WI3

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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: NLRC5
    NOD-like receptor family

    4 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4
     IPR007111 NACHT_NTPase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q86WI3

    ProtoNet protein and cluster: Q86WI3

    1 Blocks protein domain: IPB000767 Disease resistance protein signature

    UniProtKB/Swiss-Prot: NLRC5_HUMAN, Q86WI3
    Similarity: Belongs to the NLRP family
    Similarity: Contains 26 LRR (leucine-rich) repeats
    Similarity: Contains 1 NACHT domain


    NLRC5 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NLRC5_HUMAN, Q86WI3
    Function: Probable regulator of the NF-kappa-B and type I interferon signaling pathways. May also regulate the
    type II interferon signaling pathway. Plays a role in homeostatic control of innate immunity and in antiviral
    defense mechanisms
    Induction: By IFNG/IFN-gamma

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding IDA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    NLRC5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NLRC5:
     Increased S DNA content  Increased cell size 

         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Nlrc5):
     hematopoietic system  immune system  no phenotypic analysis 

    NLRC5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NLRC5: Nlrc5tm1.1Ggaur Nlrc5tm1Aki

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NLRC5
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    hsa-miR-1304 hsa-miR-544b hsa-miR-631 hsa-miR-425 hsa-miR-1827 hsa-miR-3652 hsa-miR-3661
    SwitchGear 3'UTR luciferase reporter plasmidNLRC5 3' UTR sequence
    Inhib. RNA
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    (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
    NLRC5_HUMAN, Q86WI3: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    NLRC5 for ontologies           About GeneDecksing


    (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 NLRC5 About    
    See pathways by source

    SuperPathContained pathways About
    1RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways0.47
    Negative regulators of RIG-I/MDA5 signaling0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for NLRC5
        RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    Negative regulators of RIG-I/MDA5 signaling



    NLRC5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including NLRC5: 
              Inflammasomes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NLRC5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for NLRC5 (Q86WI33 ENSP000002625104) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHUKO151113, ENSP000003594244I2D: score=3 STRING: ENSP00000359424
    IKBKBO149203, ENSP000003391514I2D: score=2 STRING: ENSP00000339151
    DDX58ENSP000003692134STRING: ENSP00000369213
    IFIH1ENSP000002636424STRING: ENSP00000263642
    MAVSENSP000004019804STRING: ENSP00000401980
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032088negative regulation of NF-kappaB transcription factor activity IDA--
    GO:0032480negative regulation of type I interferon production TAS--
    GO:0043549regulation of kinase activity IDA--
    GO:0045087innate immune response TAS--
    GO:0045345positive regulation of MHC class I biosynthetic process IDA--

    NLRC5 for ontologies           About GeneDecksing



    (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 NLRC5



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NLRC5 gene: 
    NM_032206.4  

    Unigene Cluster for NLRC5:

    NLR family, CARD domain containing 5
    Hs.528836  [show with all ESTs]
    Unigene Representative Sequence: NM_032206
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):
    ENST00000539881(uc010ccq.1) ENST00000262510(uc021tiv.1 uc021tiw.1 uc021tiu.1 uc010ccr.1)
    ENST00000543141 ENST00000538273 ENST00000535658 ENST00000544641 ENST00000538059
    ENST00000539144 ENST00000538805 ENST00000545081 ENST00000538110 ENST00000536231
    ENST00000543030 ENST00000538453(uc002eko.1 uc002ekq.1) ENST00000540182
    ENST00000538930 ENST00000538778 ENST00000541020
    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate NLRC5:
    hsa-miR-1304 hsa-miR-544b hsa-miR-631 hsa-miR-425 hsa-miR-1827 hsa-miR-3652 hsa-miR-3661
    SwitchGear 3'UTR luciferase reporter plasmidNLRC5 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NLRC5
      QuantiFast Probe-based Assays in human, mouse, rat NLRC5

    Additional mRNA sequence: 

    AF389420.1 AK025212.1 AK025362.1 AK027414.1 AK027416.1 AK074133.1 AK074182.1 AK090439.1 
    AK097030.1 BC040278.1 BC050527.1 BC063566.1 BX640842.1 EF452236.1 

    18 DOTS entries:

    DT.100024310  DT.213053  DT.100795699  DT.91918928  DT.97845649  DT.95136362  DT.100795697  DT.91681344 
    DT.100795700  DT.40251673  DT.91823833  DT.91893196  DT.92050608  DT.100024309  DT.75121375  DT.95087827 
    DT.95356925  DT.91942010 

    Selected AceView cDNA sequences (see all 165):

    CB128075 BX644817 CN479308 AW516362 AI439199 BM469000 BX280877 AA347231 
    BX384801 BX643552 BC040278 BM993764 BI755973 BX384802 AL704292 CR624150 
    AI439202 CB242600 CR609707 AW505223 CA310757 AK097030 BX384711 BU626286 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NLRC5 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^
    SP1:                                                                                                                                      -                     
    SP2:                                            -                                                                 -                       -                     
    SP3:                                                                                                                          -           -                     
    SP4:                                            -                                                                                                               
    SP5:                                                                                                                                                            

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46a ·
    SP1:                                                              -                                                                                         -   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 46b · 46c ^ 47 ^ 48a · 48b
    SP1:  -                           
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for NLRC5

    (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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    NLRC5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACCCAGTG
    NLRC5 Expression
    About this image


    NLRC5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Umbilical Cord (Extraembryonic Tissues)
    NLRC5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NLRC5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.528836

    UniProtKB/Swiss-Prot: NLRC5_HUMAN, Q86WI3
    Tissue specificity: Expressed in spleen, thymus, lung, brain, tonsil, heart and prostate

        Pathway & Disease-focused RT2 Profiler PCR Array including NLRC5: 
              Inflammasomes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRC5

    (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

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    This gene was present in the common ancestor of chordates.

    Orthologs for NLRC5 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nlrc51 , 5 NLR family, CARD domain containing 51, 5 70.59(n)1
    61.7(a)1
      8 (46.55 cM)5
    4343411  NM_001033207.31  NP_001028379.21 
     944727635 
    chicken
    (Gallus gallus)
    Aves NLRC51 NLR family, CARD domain containing 5 52.9(n)
    41.01(a)
      100857413  XM_004944056.1  XP_004944113.1 
    lizard
    (Anolis carolinensis)
    Reptilia NLRC56
    NLR family, CARD domain containing 5
    34(a)
    1 ↔ 1
    AAWZ02038269(4539-12140)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017304741 protein NLRC5-like 47.13(n)
    36.36(a)
      101730474  XM_004914234.1  XP_004914291.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-122c9.51 si:ch211-122c9.5 42.74(n)
    30.14(a)
      100535184  XM_003200446.2  XP_003200494.2 


    ENSEMBL Gene Tree for NLRC5 (if available)
    TreeFam Gene Tree for NLRC5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NLRC5 gene
    NOD22  NLRX12  NLRP12  CARD82  NOD12  CIITA2  
    Selected SIMAP similar genes for NLRC5 using alignment to 12 protein entries:     NLRC5_HUMAN (see all proteins) (see all similar genes):
    DKFZp686O13216    ARL6IP5    EIF3G    NDC80    SNRPF    DYNC2LI1
    ARIH1    MMADHC    TBCB    EEF1E1    IDNK    ADCK1
    pp12301    CDK10    COQ5    C12orf76    EIF3K    PARK2

    NLRC5 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), 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 NLRC5 (see all 1991)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363884
    A breast cancer sample4--see VAR_0363882 M I mis40--------
    rs1471471261,2
    Cuntested158072613(+) TGAATC/TGGACC 2 S L mis10--------
    rs1994759781,2
    Cuntested158074855(+) TGATCC/TTCTGA 1 -- int10--------
    rs1994759811,2
    Cuntested158078313(+) GGCCAC/TCCTTA 1 -- int10--------
    rs1994759841,2
    Cuntested158083979(+) AGCCAC/TATGCC 1 -- int10--------
    rs1994759921,2
    Cuntested158093512(+) TGAGGC/TGTCAG 1 -- int10--------
    rs1994759941,2
    Cuntested158093962(+) AGCCAC/TGGGGG 1 -- int10--------
    rs1994759951,2
    Cuntested158098449(+) TAAGAC/TGAGAG 1 -- int10--------
    rs1994760011,2
    Cuntested158105902(+) GTCCCC/TGAAAA 1 -- int10--------
    rs1994760041,2
    Cuntested158108392(+) GTGGGA/GGCACC 1 -- int10--------

    HapMap Linkage Disequilibrium report for NLRC5 (57023397 - 57117443 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NLRC5 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2132758CNV Deletion18987734
    esv2714520CNV Deletion23290073
    esv2676366CNV Deletion23128226
    esv2714523CNV Deletion23290073
    esv2714522CNV Deletion23290073
    esv2254792CNV Deletion18987734
    esv2714521CNV Deletion23290073
    esv2675650CNV Deletion23128226
    esv1676058CNV Insertion17803354
    nsv827683CNV Loss20364138

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613537    OMIM disorders: --

    9 diseases for NLRC5:    
    About MalaCards
    legionnaires' disease    familial mediterranean fever    tonsillitis    coronary heart disease
    breast and colorectal cancer    bipolar disorder    schizophrenia    colorectal cancer
    prostatitis

    1 disease from the University of Copenhagen DISEASES database for NLRC5:
    Legionnaires' disease

    NLRC5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NLRC5
    Human Genome Epidemiology (HuGE) Navigator: NLRC5 (2 documents)

    Export disorders for NLRC5 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 NLRC5 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with NLRC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. (PubMed id 12615073)1, 2, 3 Dowds T.A.... Nunez G. (Biochem. Biophys. Res. Commun. 2003)
    2. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PubMed id 21347282)1, 4 Lettre G....Boerwinkle E. (PLoS Genet. 2011)
    3. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (Diabetologia 2010)
    4. The nucleotide-binding oligomerization domain-like receptor NLRC5 is involved in IFN-dependent antiviral immune responses. (PubMed id 20061403)1, 2 Kuenzel S.... Rosenstiel P. (J. Immunol. 2010)
    5. NLRC5 negatively regulates the NF-kappaB and type I interferon signaling pathways. (PubMed id 20434986)1, 2 Cui J.... Wang R.F. (Cell 2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. (PubMed id 23505323)1 Weissglas-Volkov D....Pajukanta P. (J. Med. Genet. 2013)
    8. Rhinovirus-induced calcium flux triggers NLRP3 and NLRC5 activation in bronchial cells. (PubMed id 23815151)1 Triantafilou K....Triantafilou M. (Am. J. Respir. Cell Mol. Biol. 2013)
    9. NLRC5 controls basal MHC class I gene expression in an MHC enhanceosome-dependent manner. (PubMed id 22490867)1 Neerincx A....Kufer T.A. (J. Immunol. 2012)
    10. The nucleotide-binding domain of NLRC5 is critical for nuclear import and transactivation activity. (PubMed id 22310711)1 Meissner T.B....Kobayashi K.S. (Biochem. Biophys. Res. Commun. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 84166 HGNC: 29933 AceView: NOD27 Ensembl:ENSG00000140853 euGenes: HUgn84166
    ECgene: NLRC5 H-InvDB: NLRC5

    (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 NLRC5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NLRC5 gene:
    Search GeneIP for patents involving NLRC5

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



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