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Aliases for CARD8 Gene

Aliases for CARD8 Gene

  • Caspase Recruitment Domain Family Member 8 2 3 5
  • Tumor Up-Regulated CARD-Containing Antagonist Of CASP9 3 4
  • Caspase Recruitment Domain Family, Member 8 2 3
  • Apoptotic Protein NDPP1 3 4
  • CARDINAL 3 4
  • DACAR 3 4
  • NDPP1 3 4
  • TUCAN 3 4
  • Tumor Up-Regulated CARD-Containing Antagonist Of Caspase Nine 3
  • CARD Inhibitor Of NF-KappaB-Activating Ligands 3
  • CARD-Inhibitor Of NF-Kappa-B-Activating Ligand 4
  • KIAA0955 4
  • DAKAR 3
  • NDPP 3

External Ids for CARD8 Gene

Previous GeneCards Identifiers for CARD8 Gene

  • GC19M053403
  • GC19M052918
  • GC19M048711
  • GC19M045093

Summaries for CARD8 Gene

Entrez Gene Summary for CARD8 Gene

  • The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for CARD8 Gene

CARD8 (Caspase Recruitment Domain Family Member 8) is a Protein Coding gene. Diseases associated with CARD8 include masters-allen syndrome and anthracosis. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. GO annotations related to this gene include protein homodimerization activity and NACHT domain binding.

UniProtKB/Swiss-Prot for CARD8 Gene

  • Inhibits NF-kappa-B activation. May participate in a regulatory mechanism that coordinates cellular responses controlled by NF-kappa-B transcription factor. May be a component of the inflammasome, a protein complex which also includes PYCARD, NALP2 and CASP1 and whose function would be the activation of proinflammatory caspases.

Gene Wiki entry for CARD8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CARD8 Gene

Genomics for CARD8 Gene

Regulatory Elements for CARD8 Gene

Promoters for CARD8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CARD8 on UCSC Golden Path with GeneCards custom track

Genomic Location for CARD8 Gene

Chromosome:
19
Start:
48,180,770 bp from pter
End:
48,256,277 bp from pter
Size:
75,508 bases
Orientation:
Minus strand

Genomic View for CARD8 Gene

Genes around CARD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CARD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CARD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CARD8 Gene

Proteins for CARD8 Gene

  • Protein details for CARD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2G2-CARD8_HUMAN
    Recommended name:
    Caspase recruitment domain-containing protein 8
    Protein Accession:
    Q9Y2G2
    Secondary Accessions:
    • B5KVR6
    • B7Z496
    • B7Z4A2
    • E9PEM7
    • G3XAM9
    • Q6PGP8
    • Q96P82

    Protein attributes for CARD8 Gene

    Size:
    431 amino acids
    Molecular mass:
    48933 Da
    Quaternary structure:
    • May form homodimers. Interacts with NEMO and DRAL. Binds to caspase-1, CARD16/pseudo-ICE and CARD18/ICEBERG. Interacts with FNBP3 (By similarity). Interacts with NALP2 NACHT domain.
    SequenceCaution:
    • Sequence=BAA76799.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CARD8 Gene

    Alternative splice isoforms for CARD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CARD8 Gene

Proteomics data for CARD8 Gene at MOPED

Post-translational modifications for CARD8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for CARD8 Gene

Domains & Families for CARD8 Gene

Gene Families for CARD8 Gene

Protein Domains for CARD8 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9Y2G2

UniProtKB/Swiss-Prot:

CARD8_HUMAN :
  • Contains 1 CARD domain.
Domain:
  • Contains 1 CARD domain.
genes like me logo Genes that share domains with CARD8: view

Function for CARD8 Gene

Molecular function for CARD8 Gene

UniProtKB/Swiss-Prot Function:
Inhibits NF-kappa-B activation. May participate in a regulatory mechanism that coordinates cellular responses controlled by NF-kappa-B transcription factor. May be a component of the inflammasome, a protein complex which also includes PYCARD, NALP2 and CASP1 and whose function would be the activation of proinflammatory caspases.

Gene Ontology (GO) - Molecular Function for CARD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process IDA 15030775
GO:0042803 protein homodimerization activity IDA 15030775
genes like me logo Genes that share ontologies with CARD8: view

Phenotypes for CARD8 Gene

genes like me logo Genes that share phenotypes with CARD8: view

Animal Model Products

CRISPR Products

miRNA for CARD8 Gene

miRTarBase miRNAs that target CARD8

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CARD8 Gene

Localization for CARD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CARD8 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CARD8 Gene COMPARTMENTS Subcellular localization image for CARD8 gene
Compartment Confidence
cytosol 5
nucleus 5

Gene Ontology (GO) - Cellular Components for CARD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15030775
GO:0072559 NLRP3 inflammasome complex IDA 15030775
genes like me logo Genes that share ontologies with CARD8: view

Pathways & Interactions for CARD8 Gene

genes like me logo Genes that share pathways with CARD8: view

Pathways by source for CARD8 Gene

1 BioSystems pathway for CARD8 Gene
1 KEGG pathway for CARD8 Gene

SIGNOR curated interactions for CARD8 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for CARD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 15030775
genes like me logo Genes that share ontologies with CARD8: view

Drugs & Compounds for CARD8 Gene

No Compound Related Data Available

Transcripts for CARD8 Gene

Unigene Clusters for CARD8 Gene

Caspase recruitment domain family, member 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CARD8 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1: - - - - -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: - - - - - -
SP6: - - - - -
SP7: - - - - - - - - -
SP8:
SP9: - - - - - - - - -
SP10: - - -
SP11:
SP12: - -

ExUns: 17b · 17c · 17d · 17e · 17f
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for CARD8 Gene

GeneLoc Exon Structure for
CARD8
ECgene alternative splicing isoforms for
CARD8

Expression for CARD8 Gene

mRNA expression in normal human tissues for CARD8 Gene

mRNA differential expression in normal tissues according to GTEx for CARD8 Gene

This gene is overexpressed in Whole Blood (x7.1).

Protein differential expression in normal tissues from HIPED for CARD8 Gene

This gene is overexpressed in Colon muscle (18.9), Esophagus (17.5), and Peripheral blood mononuclear cells (16.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CARD8 Gene



SOURCE GeneReport for Unigene cluster for CARD8 Gene Hs.446146

mRNA Expression by UniProt/SwissProt for CARD8 Gene

Q9Y2G2-CARD8_HUMAN
Tissue specificity: High expression in lung, ovary, testis and placenta. Lower expression in heart, kidney and liver. Also expressed in spleen, lymph node and bone marrow.
genes like me logo Genes that share expression patterns with CARD8: view

Protein tissue co-expression partners for CARD8 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CARD8 Gene

Orthologs for CARD8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CARD8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CARD8 35
  • 97 (n)
  • 94.89 (a)
CARD8 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CARD8 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CARD8 36
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 3 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii NLRP1 36
  • 5 (a)
OneToMany
Species with no ortholog for CARD8:
  • A. gosspyii yeast (Ashbya 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CARD8 Gene

ENSEMBL:
Gene Tree for CARD8 (if available)
TreeFam:
Gene Tree for CARD8 (if available)

Paralogs for CARD8 Gene

genes like me logo Genes that share paralogs with CARD8: view

No data available for Paralogs for CARD8 Gene

Variants for CARD8 Gene

Sequence variations from dbSNP and Humsavar for CARD8 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs11881179 - 48,231,685(+) ATCAA(C/T)CAACT nc-transcript-variant, reference, missense
rs59878320 - 48,230,938(+) TGACC(G/T)CATCC nc-transcript-variant, reference, missense
rs3014 -- 48,203,271(+) ctctc(C/T)aaaga intron-variant, utr-variant-3-prime
rs274864 -- 48,230,005(+) ctact(C/T)aagag intron-variant
rs1062806 -- 48,210,188(-) AGCTT(A/C)CGTAT intron-variant, nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CARD8 Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV Gain+Loss 18304495
esv34181 CNV Loss 18971310
nsv523716 CNV Loss 19592680
nsv912218 CNV Loss 21882294
nsv458716 CNV Loss 19166990
nsv469623 CNV Complex 16826518
esv8882 OTHER Inversion 19470904
nsv458717 CNV Loss 19166990
nsv517364 CNV Gain+Loss 19592680
esv2669487 CNV Deletion 23128226
nsv833854 CNV Loss 17160897

Variation tolerance for CARD8 Gene

Residual Variation Intolerance Score: 95.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.90; 67.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CARD8 Gene

HapMap Linkage Disequilibrium report
CARD8
Human Gene Mutation Database (HGMD)
CARD8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CARD8 Gene

Disorders for CARD8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CARD8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
masters-allen syndrome
  • broad ligament laceration syndrome
anthracosis
  • pneumoconiosis
rheumatoid arthritis
  • rheumatoid arthritis, progression of
- elite association - COSMIC cancer census association via MalaCards
Search CARD8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CARD8

Genetic Association Database (GAD)
CARD8
Human Genome Epidemiology (HuGE) Navigator
CARD8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CARD8
genes like me logo Genes that share disorders with CARD8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CARD8 Gene

Publications for CARD8 Gene

  1. TUCAN, an antiapoptotic caspase-associated recruitment domain family protein overexpressed in cancer. (PMID: 11408476) Pathan N. … Reed J.C. (J. Biol. Chem. 2001) 2 3 4 23 67
  2. No association of the CARD8 (TUCAN) c.30T>A (p.C10X) variant with Crohn's disease: a study in 3 independent European cohorts. (PMID: 18092344) BA1ning C. … Witt H. (Inflamm. Bowel Dis. 2008) 3 23
  3. Genetic variation in proteins of the cryopyrin inflammasome influences susceptibility and severity of rheumatoid arthritis (the Swedish TIRA project). (PMID: 18263599) Kastbom A. … SAPderkvist P. (Rheumatology (Oxford) 2008) 3 23
  4. Gene polymorphisms in the NALP3 inflammasome are associated with interleukin-1 production and severe inflammation: relation to common inflammatory diseases? (PMID: 18311798) Verma D. … SAorndahl E. (Arthritis Rheum. 2008) 3 23
  5. Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation. (PMID: 18212821) Bagnall R.D. … Mathew C.G. (Eur. J. Hum. Genet. 2008) 3 23

Products for CARD8 Gene

Sources for CARD8 Gene

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