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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
  • 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
  • Caspase Recruitment Domain-Containing Protein 8 3
  • CARD Inhibitor Of NF-KappaB-Activating Ligands 3
  • CARD-Inhibitor Of NF-Kappa-B-Activating Ligand 4
  • Caspase Recruitment Domain Family, Member 8 2
  • 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 Rheumatoid Arthritis. Among its related pathways are Toll-Like receptor Signaling Pathways and NOD pathway. 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

Enhancers for CARD8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F048253 1.5 FANTOM5 ENCODE 12.7 -1.2 -1175 7.1 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 CARD8-AS1 EHD2 KDELR1 ENSG00000268746 PLA2G4C PLEKHA4 EMP3 SNORD23 CARD8 GRWD1
GH19F048203 1.1 ENCODE 14.3 +52.2 52175 1.9 HDGF PKNOX1 WRNIP1 ARID4B SIN3A YY1 ZNF302 ZNF207 ZNF143 SP3 GRWD1 CARD8 GLTSCR1 KDELR1 GLTSCR2-AS1 CCDC9 CYTH2 EHD2 PLA2G4C SYNGR4
GH19F048243 1.2 Ensembl ENCODE 9.3 +11.6 11605 2.1 HDGF ATF1 PKNOX1 CREB3L1 YY1 ZNF121 GLIS2 ZNF766 ZNF143 SP3 EHD2 KDELR1 PLEKHA4 GRWD1 CARD8-AS1 CARD8 PLA2G4C ZNF114 GC19M048250 PIR59935
GH19F048328 1.4 FANTOM5 ENCODE 7.5 -75.4 -75389 5.8 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A YBX1 FEZF1 ZNF2 GRWD1 KDELR1 GLTSCR2-AS1 TMEM143 EHD2 GLTSCR1 PLEKHA4 SYNGR4 EMP3 RASIP1
GH19F048206 0.6 Ensembl 12 +49.6 49577 0.6 SMARCE1 PKNOX1 NFYA JUN DPF2 ARID1B JUND SMARCA4 MLLT1 CARD8 SYNGR4 TMEM143 CCDC114 ENSG00000268583 PIR40942
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CARD8 on UCSC Golden Path with GeneCards custom track

Promoters for CARD8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001419719 377 1801 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A YY1 SLC30A9 ZNF143 ZNF207

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

Post-translational modifications for CARD8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for CARD8

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

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:0005515 protein binding IPI 11551959
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process IDA 15030775
GO:0032089 NACHT domain binding IPI 15030775
GO:0042803 protein homodimerization activity IDA 15030775
genes like me logo Genes that share ontologies with CARD8: view
genes like me logo Genes that share phenotypes with CARD8: view

Animal Model Products

miRNA for CARD8 Gene

miRTarBase miRNAs that target CARD8

Inhibitory RNA Products

Clone 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
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 CARD8 gene
Compartment Confidence
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for CARD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11551959
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 15030775
GO:0061702 inflammasome complex IEA --
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:0006915 apoptotic process IEA --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA --
GO:0042981 regulation of apoptotic process IEA --
GO:0043122 regulation of I-kappaB kinase/NF-kappaB signaling IEA --
GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IDA 11551959
genes like me logo Genes that share ontologies with CARD8: view

Transcripts for CARD8 Gene

Unigene Clusters for CARD8 Gene

Caspase recruitment domain family, member 8:
Representative Sequences:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CARD8 Gene



Protein tissue co-expression partners for CARD8 Gene

NURSA nuclear receptor signaling pathways regulating expression of CARD8 Gene:

CARD8

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

Primer 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 34 35
  • 97 (n)
dog
(Canis familiaris)
Mammalia CARD8 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CARD8 35
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 3 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii NLRP1 35
  • 5 (a)
OneToMany
Species where no ortholog for CARD8 was found in the sources mined by GeneCards:
  • 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

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
rs879255364 Uncertain significance 48,238,462(-) TGTTG(A/G)TTGAC intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs10401861 -- 48,252,810(+) ATATA(C/T)ACACA intron-variant
rs10401862 -- 48,252,812(+) ATACA(C/T)ACACA intron-variant
rs10403848 -- 48,253,518(+) TGAAT(A/G)TCAGA intron-variant
rs10405717 -- 48,248,551(+) CTCAC(C/T)CACAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv9739 CNV gain+loss 18304495
nsv833854 CNV loss 17160897
nsv579903 CNV loss 21841781
nsv579902 CNV loss 21841781
nsv523716 CNV loss 19592680
nsv517364 CNV gain+loss 19592680
nsv469623 CNV loss 16826518
nsv458717 CNV loss 19166990
nsv458716 CNV loss 19166990
nsv1065311 CNV gain 25217958
nsv1065106 CNV gain 25217958
nsv1057454 CNV loss 25217958
nsv1056459 CNV loss 25217958
esv8882 OTHER inversion 19470904
esv3644579 CNV loss 21293372
esv34181 CNV loss 18971310
esv2669487 CNV deletion 23128226
dgv3616n100 CNV loss 25217958
dgv3615n100 CNV loss 25217958
dgv3614n100 CNV gain 25217958
dgv3613n100 CNV gain 25217958

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

Human Gene Mutation Database (HGMD)
CARD8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CARD8

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

Disorders for CARD8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
masters-allen syndrome
  • broad ligament laceration syndrome
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 22 64
  2. 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 4 22 64
  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 22 46 64
  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 22 46 64
  5. CARD-8 protein, a new CARD family member that regulates caspase-1 activation and apoptosis. (PMID: 11821383) Razmara M. … Alnemri E.S. (J. Biol. Chem. 2002) 3 4 22 64

Products for CARD8 Gene

Sources for CARD8 Gene

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