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 apoptos... See more...

Aliases for CASP8AP2 Gene

Aliases for CASP8AP2 Gene

  • Caspase 8 Associated Protein 2 2 3 5
  • FLICE-Associated Huge Protein 2 3 4
  • CASP8-Associated Protein 2 3 4
  • FLASH 3 4
  • RIP25 3 4
  • CASP8 Associated Protein 2 2
  • 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 Apoptosis and survival Caspase cascade and TNFR1 Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and protease binding.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for CASP8AP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CASP8AP2 Gene

Genomics for CASP8AP2 Gene

GeneHancer (GH) Regulatory Elements for CASP8AP2 Gene

Promoters and enhancers for CASP8AP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASP8AP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CASP8AP2

Top Transcription factor binding sites by QIAGEN in the CASP8AP2 gene promoter:
  • Arnt
  • HNF-1
  • HNF-1A
  • ITF-2
  • Nkx5-1
  • Roaz
  • Tal-1beta
  • TGIF

Genomic Locations for CASP8AP2 Gene

Genomic Locations for CASP8AP2 Gene
chr6:89,829,894-89,874,436
(GRCh38/hg38)
Size:
44,543 bases
Orientation:
Plus strand
chr6:90,539,613-90,584,155
(GRCh37/hg19)
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 StructureGene Density

RefSeq DNA sequence for CASP8AP2 Gene

Proteins for CASP8AP2 Gene

  • 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=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CASP8AP2 Gene

neXtProt entry for CASP8AP2 Gene

Post-translational modifications for CASP8AP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CASP8AP2 Gene

No data available for DME Specific Peptides for CASP8AP2 Gene

Domains & Families for CASP8AP2 Gene

Gene Families for CASP8AP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CASP8AP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CASP8AP2 Gene

GenScript: Design optimal peptide antigens:
  • CASP8AP2 protein (A7E2C0_HUMAN)
  • FLICE-associated huge protein (C8AP2_HUMAN)
  • CASP8 associated protein 2 (Q5T791_HUMAN)
  • CASP8 associated protein 2 (Q5T792_HUMAN)
genes like me logo Genes that share domains with CASP8AP2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CASP8AP2 Gene

Function for CASP8AP2 Gene

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.

Phenotypes From GWAS Catalog for CASP8AP2 Gene

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

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.

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 CASP8AP2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CASP8AP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IEA 19721136
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,ISS 19721136
GO:0005739 mitochondrion IDA 17245429
GO:0016605 PML body IDA 17245429
genes like me logo Genes that share ontologies with CASP8AP2: view

Pathways & Interactions for CASP8AP2 Gene

PathCards logo

SuperPathways for CASP8AP2 Gene

SuperPathway Contained pathways
1 TNFR1 Pathway
.52
.35
2 Apoptosis and survival Caspase cascade
.44
genes like me logo Genes that share pathways with CASP8AP2: view

Pathways by source for CASP8AP2 Gene

2 GeneGo (Thomson Reuters) pathways for CASP8AP2 Gene
  • Apoptosis and survival FAS signaling cascades
  • Apoptosis and survival TNFR1 signaling pathway
1 Qiagen pathway for CASP8AP2 Gene
  • Fas Signaling

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:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA,ISS --
GO:0007049 cell cycle IEA --
GO:0007165 signal transduction TAS 10235259
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors ISS,IEA --
GO:0036337 Fas signaling pathway IMP 17245429
genes like me logo Genes that share ontologies with CASP8AP2: view

Drugs & Compounds for CASP8AP2 Gene

No Compound Related Data Available

Transcripts for CASP8AP2 Gene

mRNA/cDNA for CASP8AP2 Gene

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

CRISPR 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

Expression for CASP8AP2 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CASP8AP2

SOURCE GeneReport for Unigene cluster for CASP8AP2 Gene:

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

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 30
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia CASP8AP2 30
  • 86.62 (n)
cow
(Bos Taurus)
Mammalia CASP8AP2 30
  • 84.72 (n)
mouse
(Mus musculus)
Mammalia Casp8ap2 17 30
  • 77.89 (n)
rat
(Rattus norvegicus)
Mammalia Casp8ap2 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CASP8AP2: view image

Paralogs for CASP8AP2 Gene

No data available for Paralogs for CASP8AP2 Gene

Variants for CASP8AP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CASP8AP2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs3799896 - p.Pro1659Ser

Additional dbSNP identifiers (rs#s) for CASP8AP2 Gene

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

Additional Variant Information 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

Additional Disease Information for CASP8AP2

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

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 TG (The EMBO journal 2007) 2 3 4 23 54
  2. FLASH is required for histone transcription and S-phase progression. (PMID: 17003125) Barcaroli D … De Laurenzi V (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 23 54
  3. FLASH is an essential component of Cajal bodies. (PMID: 17003126) Barcaroli D … De Laurenzi V (Proceedings of the National Academy of Sciences of the United States of America 2006) 2 3 23 54
  4. Poly-small ubiquitin-like modifier (PolySUMO)-binding proteins identified through a string search. (PMID: 23086935) Sun H … Hunter T (The Journal of biological chemistry 2012) 3 4 54
  5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 41 54

Products for CASP8AP2 Gene

  • Biorbyt antibodies for CASP8AP2

Sources for CASP8AP2 Gene