PYCARD Gene (Protein Coding)

PYD And CARD Domain Containing

GC16M031201
GIFtS:
43
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 ... See more...

Aliases for PYCARD Gene

Aliases for PYCARD Gene

  • PYD And CARD Domain Containing 2 3 5
  • Apoptosis-Associated Speck-Like Protein Containing A CARD 2 3 4
  • CARD5 2 3 4
  • ASC 2 3 4
  • Caspase Recruitment Domain-Containing Protein 5 3 4
  • Target Of Methylation-Induced Silencing 1 3 4
  • TMS-1 2 3
  • TMS1 3 4
  • PYD And CARD Domain-Containing Protein 4
  • Apoptosis-Associated Speck-Like 2
  • PYCARD 5
  • HASC 4
  • TMS 3

External Ids for PYCARD Gene

Previous GeneCards Identifiers for PYCARD Gene

  • GC16M031249
  • GC16M031120
  • GC16M031212
  • GC16M028774

Summaries for PYCARD Gene

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 Chronic Recurrent Multifocal Osteomyelitis and Muckle-Wells Syndrome. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Pathogenic Escherichia coli infection. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ion channel binding. An important paralog of this gene is PYDC1.

UniProtKB/Swiss-Prot Summary for PYCARD Gene

  • 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 pyrin 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. Modulates host resistance to DNA virus infection, probably by inducing the cleavage of and inactivating CGAS in presence of cytoplasmic double-stranded DNA (PubMed:28314590).

Gene Wiki entry for PYCARD Gene

Additional gene information for PYCARD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PYCARD Gene

Genomics for PYCARD Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PYCARD Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16J031199 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 610.3 +1.7 1669 4 BRCA1 PRDM10 IKZF1 ZNF692 POLR2A BACH1 LARP7 ZNF24 REST NR2C1 PYCARD PYCARD-AS1 PYDC1 ENSG00000260060 FUS
GH16J031178 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 32.4 +22.3 22346 5.2 BRCA1 ARHGAP35 SP1 HNRNPL CREB1 ATF7 PRDM10 ZNF629 REST TFE3 FUS NONHSAG019141.2 SETD1A SRCAP RNF40 ZNF764 ZNF646 FBRS KAT8 RUSF1
GH16J031252 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 17.9 -50.2 -50199 1.3 GATAD2A LEF1 IKZF1 ETV6 JUND DDX20 MTA2 PHF21A PKNOX1 MTA1 HSALNG0110841 piR-30188-072 piR-60246-066 PYDC1 PYCARD TRIM72 PRSS36 ITGAM ITGAX ZNF646
GH16J030398 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas 11.6 +803.1 803055 3.8 BRCA1 ARHGAP35 GATAD2A PRDM10 REST ZNF629 TFE3 RFX1 SOX13 NFKBIZ piR-46669 FUS CD2BP2 SMG1P5 SRCAP INO80E RNF40 ZNF764 ZNF785 SETD1A
GH16J030697 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 11.6 +504.5 504538 4.2 ZNF221 BRCA1 ARHGAP35 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 SIX5 SRCAP LOC730183 ZNF785 SETD1A ENSG00000260267 FUS SMG1P5 INO80E NPIPB13 BCL7C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PYCARD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PYCARD

Top Transcription factor binding sites by QIAGEN in the PYCARD gene promoter:
  • GCNF
  • GCNF-1
  • MIF-1
  • p53
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for PYCARD Gene

Genomic Locations for PYCARD Gene
chr16:31,201,486-31,203,450
(GRCh38/hg38)
Size:
1,965 bases
Orientation:
Minus strand
chr16:31,212,806-31,214,771
(GRCh37/hg19)
Size:
1,966 bases
Orientation:
Minus strand

Genomic View for PYCARD Gene

Genes around PYCARD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PYCARD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PYCARD Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PYCARD Gene

Proteins for PYCARD Gene

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  • Protein details for PYCARD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULZ3-ASC_HUMAN
    Recommended name:
    Apoptosis-associated speck-like protein containing a CARD
    Protein Accession:
    Q9ULZ3
    Secondary Accessions:
    • Q96D12
    • Q9BSZ5
    • Q9HBD0
    • Q9NXJ8

    Protein attributes for PYCARD Gene

    Size:
    195 amino acids
    Molecular mass:
    21627 Da
    Quaternary structure:
    • Self-associates; enforced oligomerization induces apoptosis, NF-kappa-B regulation and interleukin-1 beta secretion. Homooligomers can form disk-like particles of approximately 12 nm diameter and approximately 1 nm height. Next to isoform 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.
    SequenceCaution:
    • Sequence=BAA91012.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • In breast tumorigenesis, methylation-mediated silencing may affect genes and proteins that act as positive mediators of cell death.

    Three dimensional structures from OCA and Proteopedia for PYCARD Gene

    Alternative splice isoforms for PYCARD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PYCARD Gene

Protein Expression for PYCARD Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PYCARD Gene

Other Protein References for PYCARD Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for PYCARD

No data available for DME Specific Peptides for PYCARD Gene

Domains & Families for PYCARD Gene

Gene Families for PYCARD Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PYCARD Gene

InterPro:
Blocks:
  • CARD interaction domain
  • Pyrin domain
ProtoNet:

Suggested Antigen Peptide Sequences for PYCARD Gene

GenScript: Design optimal peptide antigens:
  • Target of methylation-induced silencing 1 (ASC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9ULZ3

UniProtKB/Swiss-Prot:

ASC_HUMAN :
  • The CARD domain mediates interaction with CASP1 and NLRC4 (PubMed:14634131 and PubMed:11967258).
Domain:
  • The CARD domain mediates interaction with CASP1 and NLRC4 (PubMed:14634131 and PubMed:11967258).
  • The pyrin domain mediates homotypic interactions with pyrin domains of proteins such as of NLRP3, PYDC1, PYDC2 and AIM2.
genes like me logo Genes that share domains with PYCARD: view

Function for PYCARD Gene

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Molecular function for PYCARD Gene

UniProtKB/Swiss-Prot 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 pyrin 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. Modulates host resistance to DNA virus infection, probably by inducing the cleavage of and inactivating CGAS in presence of cytoplasmic double-stranded DNA (PubMed:28314590).
UniProtKB/Swiss-Prot Induction:
In macrophages, up-regulated by endocannabinoid anandamide/AEA.

Phenotypes From GWAS Catalog for PYCARD Gene

Gene Ontology (GO) - Molecular Function for PYCARD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 24407287
GO:0004197 cysteine-type endopeptidase activity IEA --
GO:0005138 interleukin-6 receptor binding IPI 24407287
GO:0005515 protein binding IPI 11498534
GO:0005523 tropomyosin binding IPI 24407287
genes like me logo Genes that share ontologies with PYCARD: view
genes like me logo Genes that share phenotypes with PYCARD: view

Animal Models for PYCARD Gene

MGI Knock Outs for PYCARD:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYCARD

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PYCARD Gene

Localization for PYCARD Gene

Subcellular locations from UniProtKB/Swiss-Prot for PYCARD Gene

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). {ECO:0000250}.
Golgi apparatus membrane. Note=(Microbial infection) Upon HRSV infection, the protein is mainly located in lipid rafts in the Golgi membrane. {ECO:0000269 PubMed:23229815}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PYCARD gene
Compartment Confidence
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
extracellular 4
lysosome 4
plasma membrane 2
cytoskeleton 2
endosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PYCARD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA,IDA 23229815
GO:0005576 extracellular region TAS --
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with PYCARD: view

Pathways & Interactions for PYCARD Gene

genes like me logo Genes that share pathways with PYCARD: view

SIGNOR curated interactions for PYCARD Gene

Activates:

Gene Ontology (GO) - Biological Process for PYCARD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001773 myeloid dendritic cell activation IMP 22732093
GO:0002218 activation of innate immune response IDA 21575908
GO:0002230 positive regulation of defense response to virus by host IEA --
GO:0002277 myeloid dendritic cell activation involved in immune response ISS --
GO:0002376 immune system process IEA --
genes like me logo Genes that share ontologies with PYCARD: view

Drugs & Compounds for PYCARD Gene

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  1. Drug

(1) Additional Compounds for PYCARD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PYCARD: view

Transcripts for PYCARD Gene

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mRNA/cDNA for PYCARD Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PYCARD

Alternative Splicing Database (ASD) splice patterns (SP) for PYCARD Gene

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

Relevant External Links for PYCARD Gene

GeneLoc Exon Structure for
PYCARD

Expression for PYCARD Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PYCARD Gene

mRNA expression in normal human tissues for PYCARD Gene
mRNA expression by BioGPS for PYCARD GenemRNA expression by GTEx for PYCARD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PYCARD Gene

This gene is overexpressed in Whole Blood (x18.2).

Protein differential expression in normal tissues from HIPED for PYCARD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PYCARD Gene



Protein tissue co-expression partners for PYCARD Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PYCARD

SOURCE GeneReport for Unigene cluster for PYCARD Gene:

Hs.499094

mRNA Expression by UniProt/SwissProt for PYCARD Gene:

Q9ULZ3-ASC_HUMAN
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. Expressed in lung epithelial cells (at protein level) (PubMed:23229815). 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.

Evidence on tissue expression from TISSUES for PYCARD Gene

  • Intestine(4.6)
  • Liver(4.5)
  • Pancreas(4.4)
  • Blood(3.3)
  • Spleen(3.2)
  • Lymph node(3)
  • Skin(3)
  • Bone marrow(2.8)
  • Lung(2.7)
  • Heart(2.6)
  • Nervous system(2.6)
  • Kidney(2.5)
  • Stomach(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with PYCARD: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PYCARD Gene

Orthologs for PYCARD Gene

This gene was present in the common ancestor of chordates.

Orthologs for PYCARD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PYCARD 30 31
  • 99.32 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PYCARD 30 31
  • 81.54 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PYCARD 30 31
  • 77.84 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pycard 30 17 31
  • 74.27 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pycard 30
  • 74.09 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 57 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 51 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 44 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100491802 30
  • 58.62 (n)
Zebrafish
(Danio rerio)
 Actinopterygii pycard 31
  • 30 (a)
 OneToMany
Species where no ortholog for PYCARD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PYCARD Gene

ENSEMBL:
Gene Tree for PYCARD (if available)
TreeFam:
Gene Tree for PYCARD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PYCARD: view image

Paralogs for PYCARD Gene

Paralogs for PYCARD Gene

(3) SIMAP similar genes for PYCARD Gene using alignment to 2 proteins:

  • ASC_HUMAN
  • H3BP42_HUMAN
genes like me logo Genes that share paralogs with PYCARD: view

Variants for PYCARD Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PYCARD Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
746728 Benign: not provided 31,201,831(-) A/G SYNONYMOUS_VARIANT
782138 Likely Benign: not provided 31,201,765(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PYCARD Gene

Variation tolerance for PYCARD Gene

Residual Variation Intolerance Score: 43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.27; 5.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PYCARD Gene

Human Gene Mutation Database (HGMD)
PYCARD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PYCARD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PYCARD Gene

Disorders for PYCARD Gene

MalaCards: The human disease database

(12) MalaCards diseases for PYCARD Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chronic recurrent multifocal osteomyelitis
  • crmo
muckle-wells syndrome
  • mws
cinca syndrome
  • cinca
schnitzler syndrome
  • chronic urticaria with gammapathy
familial mediterranean fever
  • fmf
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PYCARD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PYCARD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PYCARD Gene

Publications for PYCARD Gene

  1. TMS1, a novel proapoptotic caspase recruitment domain protein, is a target of methylation-induced gene silencing in human breast cancers. (PMID: 11103776) Conway KE … Vertino PM (Cancer research 2000) 2 3 4 23
  2. ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells. (PMID: 10567338) Masumoto J … Sagara J (The Journal of biological chemistry 1999) 2 3 4 23
  3. Structure and interdomain dynamics of apoptosis-associated speck-like protein containing a CARD (ASC). (PMID: 19759015) de Alba E (The Journal of biological chemistry 2009) 3 4 23
  4. Pyrin-only protein 2 modulates NF-kappaB and disrupts ASC:CLR interactions. (PMID: 17339483) Bedoya F … Harton JA (Journal of immunology (Baltimore, Md. : 1950) 2007) 3 4 23
  5. Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. (PMID: 16037825) Yu JW … Alnemri ES (Cell death and differentiation 2006) 3 4 23

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