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PYCARD Gene

protein-coding   GIFtS: 64
GCID: GC16M031212

PYD And CARD Domain Containing

  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
PYD And CARD Domain Containing1 2     TMS2
ASC2 3 5     TMS-12
TMS12 3 5     Apoptosis-Associated Speck-Like Protein Containing A CARD2
Caspase Recruitment Domain-Containing Protein 52 3     hASC3
Target Of Methylation-Induced Silencing 12 3     PYD And CARD Domain-Containing Protein3
CARD52 3     

External Ids:    HGNC: 166081   Entrez Gene: 291082   Ensembl: ENSG000001034907   OMIM: 6068385   UniProtKB: Q9ULZ33   

Export aliases for PYCARD gene to outside databases

Previous GC identifers: GC16M031249 GC16M031120 GC16M028774


(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 PYCARD Gene:
This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal
PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are
members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes
in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein
is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the
nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. (provided
by RefSeq, Jul 2008)

GeneCards Summary for PYCARD Gene:
PYCARD (PYD and CARD domain containing) is a protein-coding gene. Diseases associated with PYCARD include cryopyrin-associated periodic syndrome, and schnitzler syndrome. GO annotations related to this gene include cysteine-type endopeptidase activator activity involved in apoptotic process and protein homodimerization activity. An important paralog of this gene is PYDC1.

UniProtKB/Swiss-Prot: ASC_HUMAN, Q9ULZ3
Function: Functions as key mediator in apoptosis and inflammation. Promotes caspase-mediated apoptosis involving
predominantly caspase-8 and also caspase-9 in a probable cell type-specific manner. Involved in activation of the
mitochondrial apoptotic pathway, promotes caspase-8-dependent proteolytic maturation of BID independently of FADD
in certain cell types and also mediates mitochondrial translocation of BAX and activates BAX-dependent apoptosis
coupled to activation of caspase-9, -2 and -3. Involved in macrophage pyroptosis, a caspase-1-dependent
inflammatory form of cell death and is the major constituent of the ASC pyroptosome which forms upon potassium
depletion and rapidly recruits and activates caspase-1. In innate immune response believed to act as an integral
adapter in the assembly of the inflammasome which activates caspase-1 leading to processing and secretion of
proinflammatory cytokines. The function as activating adapter in different types of inflammasomes is mediated by
the DAPIN and CARD domains and their homotypic interactions. Required for recruitment of caspase-1 to
inflammasomes containing certain pattern recognition receptors, such as NLRP2, NLRP3, AIM2 and probably IFI16. In
the NLRP1 and NLRC4 inflammasomes seems not be required but facilitates the processing of procaspase-1. In
cooperation with NOD2 involved in an inflammasome activated by bacterial muramyl dipeptide leading to caspase-1
activation. May be involved in DDX58-triggered proinflammatory responses and inflammasome activation. Isoform 2
may have a regulating effect on the function as inflammasome adapter. Isoform 3 seems to inhibit
inflammasome-mediated maturation of interleukin-1 beta. In collaboration with AIM2 which detects cytosolic
double-stranded DNA may also be involved in a caspase-1-independent cell death that involves caspase-8. In
adaptive immunity may be involved in maturation of dendritic cells to stimulate T-cell immunity and in
cytoskeletal rearrangements coupled to chemotaxis and antigen uptake may be involved in post-transcriptional
regulation of the guanine nucleotide exchange factor DOCK2; the latter function is proposed to involve the
nuclear form. Also involved in transcriptional activation of cytokines and chemokines independent of the
inflammasome; this function may involve AP-1, NF-kappa-B, MAPK and caspase-8 signaling pathways. For regulation
of NF-kappa-B activating and inhibiting functions have been reported. Modulates NF-kappa-B induction at the level
of the IKK complex by inhibiting kinase activity of CHUK and IKBK. Proposed to compete with RIPK2 for association
with CASP1 thereby down-regulating CASP1-mediated RIPK2-dependent NF-kappa-B activation and activating
interleukin-1 beta processing

Gene Wiki entry for PYCARD 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  NC_018927.2  NT_187260.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the PYCARD gene promoter:
         p53   GCNF   MIF-1   POU2F1   POU2F1a   POU2F1b   GCNF-1   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPYCARD promoter sequence
   Search Chromatin IP Primers for PYCARD

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


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M031212:  view genomic region     (about GC identifiers)

Start:
31,212,806 bp from pter      End:
31,214,771 bp from pter
Size:
1,966 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, 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: ASC_HUMAN, Q9ULZ3 (See protein sequence)
Recommended Name: Apoptosis-associated speck-like protein containing a CARD  
Size: 195 amino acids; 21627 Da
Subunit: Self-associates; enforced oligomerization induces apoptosis, NF-kappa-B regulation and interleukin-1 beta
seceretion. Homooligomers can form disk-like particles of approximately 12 nm diameter and approximately 1 nm
height. Next to isorm 1 also isoform 2 and isoform 3 may be involved in oligomerization leading to functional
regulation. Component of several inflammasomes containing one pattern recognition receptor/sensor, such as NLRP1,
NLRP2, NLRP3, AIM2, MEFV or NOD2, and probably NLRC4, NLRP12 or IFI16. Major component of the ASC pyroptosome, a
1-2 um supramolecular assembly (one per macrophage cell) which consists of oligomerized PYCARD dimers and CASP1.
Interacts with CASP1 (precursor form); the interaction induces activation of CASP1 leading to the processing of
interleukin-1 beta; PYCARD competes with RIPK2 for binding to CASP1. Interacts with NLRP3; the interaction
requires the homooligomerization of NLRP3. Interacts with NLRP2, NLRC4, MEFV, CARD16, AIM2, IFI16, NOD2, DDX58,
RIPK2, PYDC1, PYDC2, NLRP10, CASP8, CHUK, IKBKB and BAX
Miscellaneous: In breast tumorigenesis, methylation-mediated silencing may affect genes and proteins that act as
positive mediators of cell death
Sequence caution: Sequence=BAA91012.1; Type=Frameshift; Positions=4;
2 PDB 3D structures from and Proteopedia for PYCARD:
1UCP (3D)        2KN6 (3D)    
Secondary accessions: Q96D12 Q9BSZ5 Q9HBD0 Q9NXJ8
Alternative splicing: 3 isoforms:  Q9ULZ3-1   Q9ULZ3-2   Q9ULZ3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PYCARD: NX_Q9ULZ3

Explore proteomics data for PYCARD at MOPED

Post-translational modifications: 

  • Phosphorylated1
  • Ubiquitination2 at Lys109
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_037390.2  NP_660183.1  

    ENSEMBL proteins: 
     ENSP00000247470   ENSP00000340441   ENSP00000455141  
    Reactome Protein details: Q9ULZ3

    PYCARD Human Recombinant Protein Products:

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    PYCARD Assay Products:

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    Cloud-Clone Corp. ELISAs for PYCARD
    Cloud-Clone Corp. CLIAs for PYCARD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011029 DEATH-like_dom
     IPR004020 DAPIN
     IPR001315 CARD

    Graphical View of Domain Structure for InterPro Entry Q9ULZ3

    ProtoNet protein and cluster: Q9ULZ3

    2 Blocks protein domains:
    IPB001315 CARD interaction domain
    IPB004020 Pyrin domain


    UniProtKB/Swiss-Prot: ASC_HUMAN, Q9ULZ3
    Domain: The DAPIN domain mediates homotypic interactions with DAPIN domains of proteins such as of NLRP3, PYDC1
    and AIM2 (PubMed:11786556, PubMed:12656673, PubMed:19158676 and PubMed:19158675)
    Domain: The CARD domain mediates interaction with CASP1 and NLRC4 (PubMed:14634131 and PubMed:11967258)
    Similarity: Contains 1 CARD domain
    Similarity: Contains 1 DAPIN domain


    PYCARD 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: ASC_HUMAN, Q9ULZ3
    Function: Functions as key mediator in apoptosis and inflammation. Promotes caspase-mediated apoptosis involving
    predominantly caspase-8 and also caspase-9 in a probable cell type-specific manner. Involved in activation of the
    mitochondrial apoptotic pathway, promotes caspase-8-dependent proteolytic maturation of BID independently of FADD
    in certain cell types and also mediates mitochondrial translocation of BAX and activates BAX-dependent apoptosis
    coupled to activation of caspase-9, -2 and -3. Involved in macrophage pyroptosis, a caspase-1-dependent
    inflammatory form of cell death and is the major constituent of the ASC pyroptosome which forms upon potassium
    depletion and rapidly recruits and activates caspase-1. In innate immune response believed to act as an integral
    adapter in the assembly of the inflammasome which activates caspase-1 leading to processing and secretion of
    proinflammatory cytokines. The function as activating adapter in different types of inflammasomes is mediated by
    the DAPIN and CARD domains and their homotypic interactions. Required for recruitment of caspase-1 to
    inflammasomes containing certain pattern recognition receptors, such as NLRP2, NLRP3, AIM2 and probably IFI16. In
    the NLRP1 and NLRC4 inflammasomes seems not be required but facilitates the processing of procaspase-1. In
    cooperation with NOD2 involved in an inflammasome activated by bacterial muramyl dipeptide leading to caspase-1
    activation. May be involved in DDX58-triggered proinflammatory responses and inflammasome activation. Isoform 2
    may have a regulating effect on the function as inflammasome adapter. Isoform 3 seems to inhibit
    inflammasome-mediated maturation of interleukin-1 beta. In collaboration with AIM2 which detects cytosolic
    double-stranded DNA may also be involved in a caspase-1-independent cell death that involves caspase-8. In
    adaptive immunity may be involved in maturation of dendritic cells to stimulate T-cell immunity and in
    cytoskeletal rearrangements coupled to chemotaxis and antigen uptake may be involved in post-transcriptional
    regulation of the guanine nucleotide exchange factor DOCK2; the latter function is proposed to involve the
    nuclear form. Also involved in transcriptional activation of cytokines and chemokines independent of the
    inflammasome; this function may involve AP-1, NF-kappa-B, MAPK and caspase-8 signaling pathways. For regulation
    of NF-kappa-B activating and inhibiting functions have been reported. Modulates NF-kappa-B induction at the level
    of the IKK complex by inhibiting kinase activity of CHUK and IKBK. Proposed to compete with RIPK2 for association
    with CASP1 thereby down-regulating CASP1-mediated RIPK2-dependent NF-kappa-B activation and activating
    interleukin-1 beta processing

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IEA--
    GO:0005515protein binding IPI11786556
    GO:0008656cysteine-type endopeptidase activator activity involved in apoptotic process NAS12019269
    GO:0032090Pyrin domain binding IPI15030775
    GO:0042803protein homodimerization activity IDA15030775
         
    PYCARD for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Pycard):
     digestive/alimentary  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  normal  tumorigenesis 

    PYCARD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PYCARD: Pycardtm1Nnz Pycardtm1Tno Pycardtm1Flv Pycardtm1Vmd

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

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

    miRNA
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    miRTarBase miRNAs that target PYCARD:
    hsa-mir-124-3p (MIRT022399)

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    GenScript: all cDNA clones in your preferred vector (see all 2): PYCARD (NM_013258)
    Sino Biological Human cDNA Clone for PYCARD
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PYCARD
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PYCARD


    (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
    ASC_HUMAN, Q9ULZ3: Cytoplasm. Endoplasmic reticulum. Mitochondrion. Nucleus. Note=Upstream of caspase
    activation, a redistribution from the cytoplasm to the aggregates occurs. These appear as hollow, perinuclear
    spherical, ball-like structures. Upon NLRP3 inflammasome activation redistributes to the perinuclear space
    localizing to endoplasmic reticulum and mitochondria. Localized primarily to the nucleus in resting
    monocytes/macrophages and rapidly redistributed to the cytoplasm upon pathogen infection. Localized to large
    cytoplasmic aggregate appearing as a speck containing AIM2, PYCARD, CASP8 and bacterial DNA after infection with
    Francisella tularensis (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion5
    nucleus5
    cytosol4
    extracellular2

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005622intracellular ----
    GO:0005634nucleus ISS--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm NAS12019269

    PYCARD 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 PYCARD About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways0.68
    The AIM2 inflammasome0.00
    NOD-like receptor signaling pathway0.37
    Inflammasomes0.00
    NOD pathway0.33
    2NOD-like Receptor Signaling Pathways
    NOD-like Receptor Signaling Pathways0.58
    Inflammasome Activation Pathways0.51
    3Influenza A
    Influenza A0.34
    4Cytosolic sensors of pathogen-associated DNA
    Cytosolic DNA-sensing pathway0.33
    5Salmonella infection (KEGG)
    Salmonella infection0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for PYCARD
        NOD-like Receptor Signaling Pathways
    Inflammasome Activation Pathways


    2 Cell Signaling Technology (CST) Pathways for PYCARD
        Apoptosis and Autophagy
    NF-kappaB Signaling

    2 BioSystems Pathways for PYCARD
        NOD pathway
    Direct p53 effectors


    2 Reactome Pathways for PYCARD
        The AIM2 inflammasome
    The NLRP3 inflammasome


    Selected Kegg Pathways  (Kegg details for PYCARD) (see all 6):
        NOD-like receptor signaling pathway
    Cytosolic DNA-sensing pathway
    Salmonella infection
    Pertussis
    Legionellosis


    PYCARD for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PYCARD (see all 9): 
              Antiviral Response in human mouse rat
              Inflammasomes in human mouse rat
              Liver Cancer in human mouse rat
              Apoptosis in human mouse rat
              Antibacterial Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PYCARD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PYCARD (Q9ULZ31, 2, 3 ENSP000002474704) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MEFVO155532, 3, ENSP000002195964MINT-15557 MINT-15559 MINT-15558 I2D: score=4 STRING: ENSP00000219596
    PRKAR1AP106442, 3, ENSP000003514104MINT-68047 I2D: score=5 STRING: ENSP00000351410
    BAXQ078121, 3EBI-751215,EBI-516580 I2D: score=1 
    PYDC2Q56P421, 3EBI-751215,EBI-6374418 I2D: score=1 
    NLRP3Q96P201, 3, ENSP000003373834EBI-751215,EBI-6253230 I2D: score=3 STRING: ENSP00000337383
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 55):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001773myeloid dendritic cell activation IMP--
    GO:0002218activation of innate immune response IDA--
    GO:0002230positive regulation of defense response to virus by host IEA--
    GO:0002277myeloid dendritic cell activation involved in immune response ISS--
    GO:0002588positive regulation of antigen processing and presentation of peptide antigen via MHC class II ISS--

    PYCARD 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)
    About This Section

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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 PYCARD (ASC)

    1 Novoseek inferred chemical compound relationship for PYCARD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 64 9 14643031 (1), 15466382 (1), 12776200 (1), 12949795 (1) (see all 5)



    PYCARD for compounds           About GeneDecksing



    (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 PYCARD gene (3 alternative transcripts): 
    NM_013258.4  NM_145182.2  NM_145183.1  

    Unigene Cluster for PYCARD:

    PYD and CARD domain containing
    Hs.499094  [show with all ESTs]
    Unigene Representative Sequence: BM918855
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000247470(uc010cak.3 uc002ebm.3) ENST00000565022 ENST00000350605
    ENST00000561508
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      QuantiTect SYBR Green Assays in human, mouse, rat PYCARD
      QuantiFast Probe-based Assays in human, mouse, rat PYCARD

    Additional mRNA sequence: 

    AB023416.2 AF184073.1 AF255794.1 AF310103.1 AF384665.1 AK000211.1 AK314422.1 BC004470.2 
    BC013569.1 

    4 DOTS entries:

    DT.311868  DT.95271629  DT.95271631  DT.97785965 

    Selected AceView cDNA sequences (see all 77):

    AW337649 NM_145182 BM726665 BM972785 AI024901 AI675866 BE908204 BX098253 
    CK903202 AB023416 BF222093 AF310103 NM_145183 BM456838 BM459678 BC004470 
    BM910918 BC013569 NM_013258 AF384665 BG337806 BG684386 BU626120 AI262374 

    GeneLoc Exon Structure

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

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b
    SP1:                          -                     
    SP2:                          -     -               
    SP3:                                                
    SP4:                                                


    ECgene alternative splicing isoforms for PYCARD

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


    PYCARD 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
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Neural Tube (Nervous System)
             Diencephalon
    PYCARD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PYCARD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.499094

    UniProtKB/Swiss-Prot: ASC_HUMAN, Q9ULZ3
    Tissue specificity: Widely expressed at low levels. Detected in peripheral blood leukocytes, lung, small
    intestine, spleen, thymus, colon and at lower levels in placenta, liver and kidney. Very low expression in
    skeletal muscle, heart and brain. Detected in the leukemia cell lines HL-60 and U-937, but not in Jurkat T-cell
    lymphoma and Daudi Burkitt's lymphoma. Detected in the melanoma cell line WM35, but not in WM793. Not detected in
    HeLa cervical carcinoma cells and MOLT-4 lymphocytic leukemia cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PYCARD (see all 9): 
              Antiviral Response in human mouse rat
              Inflammasomes in human mouse rat
              Liver Cancer in human mouse rat
              Apoptosis in human mouse rat
              Antibacterial Response in human mouse rat

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    (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 PYCARD gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pycard1 , 5 PYD and CARD domain containing1, 5 74.27(n)1
    72.54(a)1
      7 (69.88 cM)5
    668241  NM_023258.41  NP_075747.31 
     1279921035 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    44(a)
    1 → many
    GL343220.1(2341931-2344972)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004918021 apoptosis-associated speck-like protein containing more 58.62(n)
    50(a)
      100491802  XM_002941476.2  XP_002941522.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pycard6
    PYD and CARD domain containing
    30(a)
    1 → many
    16(44753492-44759881) ENSDARG00000040076


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PYCARD gene
    PYDC12  
    3 SIMAP similar genes for PYCARD using alignment to 2 protein entries:     ASC_HUMAN (see all proteins):
    PYDC1    MEFV    NLRP1

    PYCARD 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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    10 SNPs for PYCARD    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1923587721,2
    --32216520(+) GAGGCC/TGGAGG 2 -- us2k10--------
    rs1471056681,2
    --32216604(+) AGACAA/CCTTGT 2 -- us2k10--------
    rs1119013531,2
    C,F--32216831(+) CTGAAC/ACCGTG 2 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1847771311,2
    --32216840(+) TGAGGC/TGGAGG 2 -- us2k10--------
    rs1496091181,2
    C--32216957(+) GCAGTC/GCTCTG 2 -- us2k10--------
    rs1445144361,2
    C--32216982(+) GCCTTG/TTTGTT 2 -- us2k10--------
    rs133393931,2
    C,F,H--32217173(+) ttttaA/Caattt 2 -- us2k1 tfbs310Minor allele frequency- C:0.02NS EA NA WA 1208
    rs3773775661,2
    ----32216487(+) ATCACG/TATGTC 2 -- us2k10--------
    rs344831411,2
    ----32216706(-) GTCTC-/AAAACT 2 -- us2k10--------
    rs1127011041,2
    ----32217176(+) TAAAAT/-TTTTA 2 -- us2k11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for PYCARD (31212806 - 31214771 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PYCARD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv905729CNV Loss21882294
    dgv2670n71CNV Loss21882294
    dgv2672n71CNV Loss21882294

    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606838    OMIM disorders: --

    Selected diseases for PYCARD (see all 40):    About MalaCards
    cryopyrin-associated periodic syndrome    schnitzler syndrome    legionellosis    cystinuria
    pertussis    vaccinia    familial mediterranean fever    spinal cord injury
    septic shock    malignant mesothelioma    periodontal disease    kaposi's sarcoma
    ovarian cancer    amyloidosis    thyroid cancer    periodontitis
    hepatocellular carcinoma    burkitt's lymphoma    colorectal cancer    glioblastoma multiforme


    PYCARD for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for PYCARD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 39.3 15 17471463 (2), 19324871 (1), 19223547 (1), 18701507 (1) (see all 9)
    breast cancer 35.1 27 11103776 (3), 12800194 (3), 12776200 (2), 19661336 (2) (see all 9)
    tumors 32.9 21 15466382 (2), 12800194 (2), 11103776 (1), 17177027 (1) (see all 10)
    inflammation 18.9 7 19717512 (2), 16715133 (1), 17805543 (1)
    ovarian cancer 12.9 7 14720325 (3), 17177027 (1), 16928264 (1)
    prostate cancer 7.55 12 16425203 (7)
    colorectal cancer 2.93 11 16331272 (4), 12553049 (3), 14643031 (2)
    colon cancer 0 4 14643031 (1), 16331272 (1)
    primary tumor 0 1 12776200 (1)
    hepatocellular carcinoma 0 1 17471463 (1)

    Genetic Association Database (GAD): PYCARD
    Human Genome Epidemiology (HuGE) Navigator: PYCARD (1 document)

    Export disorders for PYCARD 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 PYCARD gene, integrated from 10 sources (see all 149):
    (articles sorted by number of sources associating them with PYCARD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Activation of a caspase-9-mediated apoptotic pathway by subcellular redistribution of the novel caspase recruitment domain protein TMS1. (PubMed id 11103777)1, 2, 9 McConnell B.B. and Vertino P.M. (Cancer Res. 2000)
    2. ASC is a Bax adaptor and regulates the p53-Bax mitochondrial apoptosis pathway. (PubMed id 14730312)1, 2, 9 Ohtsuka T.... Lee S.W. (Nat. Cell Biol. 2004)
    3. Apoptosis-associated speck-like protein containing a caspase recruitment domain is a regulator of procaspase-1 activation. (PubMed id 14634131)1, 2, 9 Stehlik C....Reed J.C. (J. Immunol. 2003)
    4. TMS1, a novel proapoptotic caspase recruitment domain protein, is a target of methylation-induced gene silencing in human breast cancers. (PubMed id 11103776)1, 2, 9 Conway K.E....Vertino P.M. (Cancer Res. 2000)
    5. Structure and interdomain dynamics of apoptosis-associated speck-like protein containing a CARD (ASC). (PubMed id 19759015)1, 2, 9 de Alba E. (J. Biol. Chem. 2009)
    6. Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. (PubMed id 11498534)1, 2, 9 Richards N....Gumucio D.L. (J. Biol. Chem. 2001)
    7. ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells. (PubMed id 10567338)1, 2, 9 Masumoto J.... Sagara J. (J. Biol. Chem. 1999)
    8. Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. (PubMed id 16037825)1, 2, 9 Yu J.W.... Alnemri E.S. (Cell Death Differ. 2006)
    9. Pyrin-only protein 2 modulates NF-kappaB and disrupts ASC:CLR interactions. (PubMed id 17339483)1, 2, 9 Bedoya F.... Harton J.A. (J. Immunol. 2007)
    10. PAN1/NALP2/PYPAF2, an inducible inflammatory mediator that regulates NF-kappaB and caspase-1 activation in macrophages. (PubMed id 15456791)1, 2, 9 Bruey J.-M....Reed J.C. (J. Biol. Chem. 2004)

    (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: 29108 HGNC: 16608 AceView: PYCARD Ensembl:ENSG00000103490 euGenes: HUgn29108
    ECgene: PYCARD Kegg: 29108 H-InvDB: PYCARD

    (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 PYCARD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PYCARD Genetics and Cytogenetics in Oncology and Haematology

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

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



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