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CASP8AP2 Gene(Protein Coding)

Caspase 8 Associated Protein 2

GCID:
GC06P089829
GIFtS:
50
Genes Participants
UDN Logo

Aliases for CASP8AP2 Gene

Aliases for CASP8AP2 Gene

  • Caspase 8 Associated Protein 2 2 3 5
  • FLICE-Associated Huge Protein 2 3 4
  • FLASH 3 4
  • RIP25 3 4
  • CASP8 Associated Protein 2 2
  • CASP8-Associated Protein 2 3
  • FLICE Associated Huge 3
  • FLASH Homolog RIP25 3
  • Human FLASH 3
  • KIAA1315 4
  • CED-4 3

External Ids for CASP8AP2 Gene

Previous GeneCards Identifiers for CASP8AP2 Gene

  • GC06P090485
  • GC06P090535
  • GC06P090597
  • GC06P090601
  • GC06P090539
  • GC06P087756

Summaries for CASP8AP2 Gene

Entrez Gene Summary for CASP8AP2 Gene

  • This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008]

GeneCards Summary for CASP8AP2 Gene

CASP8AP2 (Caspase 8 Associated Protein 2) is a Protein Coding gene. Among its related pathways are TNFR1 Pathway and Apoptosis and survival Caspase cascade. GO annotations related to this gene include identical protein binding and protease binding.

UniProtKB/Swiss-Prot for CASP8AP2 Gene

  • Participates in TNF-alpha-induced blockade of glucocorticoid receptor (GR) transactivation at the nuclear receptor coactivator level, upstream and independently of NF-kappa-B. Suppresses both NCOA2- and NCOA3-induced enhancement of GR transactivation. Involved in TNF-alpha-induced activation of NF-kappa-B via a TRAF2-dependent pathway. Acts as a downstream mediator for CASP8-induced activation of NF-kappa-B. Required for the activation of CASP8 in FAS-mediated apoptosis. Required for histone gene transcription and progression through S phase.

Gene Wiki entry for CASP8AP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASP8AP2 Gene

Genomics for CASP8AP2 Gene

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  1. Regulatory Element

Regulatory Elements for CASP8AP2 Gene

Enhancers for CASP8AP2 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
GH06G090135 1.5 Ensembl ENCODE dbSUPER 30 +307.0 306993 3.6 PKNOX1 ATF1 ZNF133 FEZF1 GLI4 ZNF2 FOS KLF7 ZNF548 ZNF263 CASP8AP2 BACH2 ENSG00000218730 LOC105377890
GH06G090401 1.6 FANTOM5 Ensembl ENCODE 19.4 +573.2 573203 2.6 HDGF PKNOX1 ATF1 CREB3L1 FEZF1 TCF12 GATA2 ZNF263 YY2 TSHZ1 CASP8AP2 ENSG00000237027 BACH2 GC06M090369 GC06M090337
GH06G090222 1.2 ENCODE dbSUPER 25.5 +392.9 392911 1.0 FOXA2 CBX3 INSM2 KLF17 CHAMP1 ZNF155 GLIS2 CBX5 ZNF366 SCRT2 CASP8AP2 LOC105377890 BACH2
GH06G090214 2.6 Ensembl ENCODE dbSUPER 10.9 +388.1 388107 6.2 FOXA2 PKNOX1 SIN3A FEZF1 ZNF2 YY1 FOS ZNF263 SP3 REST MDN1 BACH2 CASP8AP2 LOC105377890
GH06G089078 1.7 Ensembl ENCODE dbSUPER 15 -748.5 -748519 5.7 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D SSRP1 SRSF12 CASP8AP2 PM20D2 UBE2J1 PNRC1 GC06P089091
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASP8AP2 on UCSC Golden Path with GeneCards custom track

Promoters for CASP8AP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000199922 -294 2001 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZNF766 ZNF143

Transcription factor binding sites by QIAGEN in the CASP8AP2 gene promoter:

Genomic Location for CASP8AP2 Gene

Chromosome:
6
Start:
89,829,894 bp from pter
End:
89,874,436 bp from pter
Size:
44,543 bases
Orientation:
Plus strand

Genomic View for CASP8AP2 Gene

Genes around CASP8AP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASP8AP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASP8AP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CASP8AP2 Gene

Proteins for CASP8AP2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CASP8AP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKL3-C8AP2_HUMAN
    Recommended name:
    CASP8-associated protein 2
    Protein Accession:
    Q9UKL3
    Secondary Accessions:
    • A2RUB7
    • E1P553
    • Q6PH76
    • Q7LCQ7
    • Q86YD9
    • Q9NUQ4
    • Q9NZV9
    • Q9P2N1
    • Q9Y563

    Protein attributes for CASP8AP2 Gene

    Size:
    1982 amino acids
    Molecular mass:
    222658 Da
    Quaternary structure:
    • Self-associates. Component of the death-inducing signaling complex (DISC) with CASP8, FADD and FAS. Interacts with NCOA2 and NCOA3. Interacts with SRRT. Interacts with TRAF2. Interacts with NPAT. Interacts (via SIM domains) with SUMO1 and SUMO2. Interacts with SP100; may negatively regulate CASP8AP2 export from the nucleus to the cytoplasm.
    SequenceCaution:
    • Sequence=AAH56685.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 364.; Evidence={ECO:0000305}; Sequence=BAA92067.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CASP8AP2 Gene

neXtProt entry for CASP8AP2 Gene

Protein Expression for CASP8AP2 Gene

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

Post-translational modifications for CASP8AP2 Gene

  • Ubiquitination at Lys92 and Lys93
  • Modification sites at PhosphoSitePlus

Other Protein References for CASP8AP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CASP8AP2 Gene

Domains & Families for CASP8AP2 Gene

Protein Domains for CASP8AP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CASP8AP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CASP8AP2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CASP8AP2 Gene

Function for CASP8AP2 Gene

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for CASP8AP2 Gene

UniProtKB/Swiss-Prot Function:
Participates in TNF-alpha-induced blockade of glucocorticoid receptor (GR) transactivation at the nuclear receptor coactivator level, upstream and independently of NF-kappa-B. Suppresses both NCOA2- and NCOA3-induced enhancement of GR transactivation. Involved in TNF-alpha-induced activation of NF-kappa-B via a TRAF2-dependent pathway. Acts as a downstream mediator for CASP8-induced activation of NF-kappa-B. Required for the activation of CASP8 in FAS-mediated apoptosis. Required for histone gene transcription and progression through S phase.
UniProtKB/Swiss-Prot Induction:
By TNF which induces strong nuclear localization.

Gene Ontology (GO) - Molecular Function for CASP8AP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003714 transcription corepressor activity IDA 12477726
GO:0005123 death receptor binding TAS 10235259
GO:0005515 protein binding IPI 12477726
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process ISS,IEA --
genes like me logo Genes that share ontologies with CASP8AP2: view
genes like me logo Genes that share phenotypes with CASP8AP2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CASP8AP2

CRISPR Products

miRNA for CASP8AP2 Gene

miRTarBase miRNAs that target CASP8AP2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CASP8AP2 Gene

Localization for CASP8AP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASP8AP2 Gene

Cytoplasm. Nucleus. Nucleus, PML body. Mitochondrion. Note=Exported from the nucleus to the mitochondria upon FAS activation.

Gene Ontology (GO) - Cellular Components for CASP8AP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12477726
GO:0005737 cytoplasm IDA 12477726
GO:0005739 mitochondrion IDA 17245429
GO:0016605 PML body IDA 17245429
genes like me logo Genes that share ontologies with CASP8AP2: view

No data available for Subcellular locations from COMPARTMENTS for CASP8AP2 Gene

Pathways & Interactions for CASP8AP2 Gene

genes like me logo Genes that share pathways with CASP8AP2: view

Pathways by source for CASP8AP2 Gene

1 Qiagen pathway for CASP8AP2 Gene

SIGNOR curated interactions for CASP8AP2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for CASP8AP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process ISS,IEA --
GO:0007049 cell cycle IEA --
GO:0007165 signal transduction TAS 10235259
genes like me logo Genes that share ontologies with CASP8AP2: view

Drugs & Compounds for CASP8AP2 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for CASP8AP2 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CASP8AP2 Gene

(3) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(98) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CASP8AP2 Gene

Caspase 8 associated protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CASP8AP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP2:
SP3:
SP4:

Relevant External Links for CASP8AP2 Gene

GeneLoc Exon Structure for
CASP8AP2
ECgene alternative splicing isoforms for
CASP8AP2

Expression for CASP8AP2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CASP8AP2 Gene

mRNA expression in normal human tissues for CASP8AP2 Gene
mRNA expression by BioGPS for CASP8AP2 GenemRNA expression by GTEx for CASP8AP2 Gene

Protein differential expression in normal tissues from HIPED for CASP8AP2 Gene

This gene is overexpressed in Bone (36.2), Pancreas (8.8), and Plasma (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CASP8AP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of CASP8AP2 Gene:

CASP8AP2

SOURCE GeneReport for Unigene cluster for CASP8AP2 Gene:

Hs.558218
genes like me logo Genes that share expression patterns with CASP8AP2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CASP8AP2 Gene

Orthologs for CASP8AP2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CASP8AP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CASP8AP2 34
  • 99.48 (n)
dog
(Canis familiaris)
 Mammalia CASP8AP2 34
  • 86.62 (n)
cow
(Bos Taurus)
 Mammalia CASP8AP2 34
  • 84.72 (n)
mouse
(Mus musculus)
 Mammalia Casp8ap2 34 16
  • 77.89 (n)
rat
(Rattus norvegicus)
 Mammalia Casp8ap2 34
  • 77.12 (n)
Species where no ortholog for CASP8AP2 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • zebrafish (Danio rerio)

Evolution for CASP8AP2 Gene

ENSEMBL:
Gene Tree for CASP8AP2 (if available)
TreeFam:
Gene Tree for CASP8AP2 (if available)

Paralogs for CASP8AP2 Gene

No data available for Paralogs for CASP8AP2 Gene

Variants for CASP8AP2 Gene

Sequence variations from dbSNP and Humsavar for CASP8AP2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000050302 -- 89,837,276(+) TGTTA(C/G)CCAGA intron-variant
rs1000130351 -- 89,854,252(+) CTGAG(G/T)TCAGG intron-variant
rs1000136865 -- 89,852,116(+) CTAGC(A/T)CTTTA intron-variant
rs1000167869 -- 89,837,346(+) GATTT(-/A)GGCAT intron-variant
rs1000170263 -- 89,869,945(+) CATAG(C/G)TTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CASP8AP2 Gene

Variant ID Type Subtype PubMed ID
esv2732412 CNV deletion 23290073
esv3890901 CNV gain 25118596
esv997597 CNV insertion 20482838
nsv1128266 CNV deletion 24896259
nsv480276 CNV novel sequence insertion 20440878
nsv512888 CNV insertion 21212237
nsv5391 CNV insertion 18451855
nsv604125 CNV gain 21841781

Relevant External Links for CASP8AP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASP8AP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for CASP8AP2 Gene

Disorders for CASP8AP2 Gene

Relevant External Links for CASP8AP2

Genetic Association Database (GAD)
CASP8AP2
Human Genome Epidemiology (HuGE) Navigator
CASP8AP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASP8AP2

No disorders were found for CASP8AP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CASP8AP2 Gene

Publications for CASP8AP2 Gene

  1. FLASH links the CD95 signaling pathway to the cell nucleus and nuclear bodies. (PMID: 17245429) Milovic-Holm K. … Hofmann T.G. (EMBO J. 2007) 2 3 4 22 64
  2. FLASH is an essential component of Cajal bodies. (PMID: 17003126) Barcaroli D. … De Laurenzi V. (Proc. Natl. Acad. Sci. U.S.A. 2006) 2 3 22 64
  3. FLASH is required for histone transcription and S-phase progression. (PMID: 17003125) Barcaroli D. … De Laurenzi V. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 22 64
  4. PolySUMO-binding proteins identified through a string search. (PMID: 23086935) Sun H. … Hunter T. (J. Biol. Chem. 2012) 3 4 64
  5. Genetic variation in caspase genes and risk of non-Hodgkin lymphoma: a pooled analysis of 3 population-based case-control studies. (PMID: 19414860) Lan Q. … Wang S.S. (Blood 2009) 3 46 64

Products for CASP8AP2 Gene

Sources for CASP8AP2 Gene

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