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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
External Ids for CASP8AP2 Gene
- HGNC: 1510
- Entrez Gene: 9994
- Ensembl: ENSG00000118412
- OMIM: 606880
- UniProtKB: Q9UKL3
Previous GeneCards Identifiers for CASP8AP2 Gene
- GC06P090485
- GC06P090535
- GC06P090597
- GC06P090601
- GC06P090539
- GC06P087756
Summaries 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. 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.
Additional gene information for CASP8AP2 Gene
- HGNC(1510)
- Entrez Gene(9994)
- Ensembl(ENSG00000118412)
- OMIM(606880)
- UniProtKB(Q9UKL3)
- Open Targets Platform(ENSG00000118412)
- Search for CASP8AP2 at DataMed
- Search for CASP8AP2 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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
- chr6:89,829,880-89,874,436
- (GRCh38/hg38)
- Size:
- 44,557 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:
-
- 6q15 by HGNC
- 6q15 by Entrez Gene
- 6q15 by Ensembl
CASP8AP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for CASP8AP2 Gene
Post-translational modifications for CASP8AP2 Gene
Other Protein References for CASP8AP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-CASP8AP2 polyclonal antibody
- Creative Biolabs Mouse Anti-CASP8AP2 Recombinant Antibody (1D2)
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-
Abcam antibodies for CASP8AP2
- Invitrogen Antibodies for CASP8AP2 (AFLGC-CASP8AP2)
-
Boster Bio Antibodies for CASP8AP2
-
Custom Antibody ServicesProSci Antibodies for CASP8AP2
Protein Products
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-
Abcam proteins for CASP8AP2
Assay Products
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)
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002020 | protease binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003714 | transcription corepressor activity | IDA, IBA | 12477726 |
| GO:0005123 | death receptor binding | TAS | 10235259 |
| GO:0005515 | protein binding | IPI | 12477726 |
Phenotypes for CASP8AP2 Gene
- MGI mutant phenotypes for CASP8AP2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CASP8AP2:
-
- no effect
- Decreased viability
- Decreased viability ratio
- Increased IL-8 secretion
- Increased gamma-H2AX phosphorylation
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased NF-kappaB reporter expression
- Increased ionizing radiation sensitivity
- FOXO1 nuclear localization
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Increased HPV18 LCR reporter activity
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in colon lineage
- S arrest
- Increased shRNA abundance (Z-score > 2)
- Decreased viability (cell death)
- Decreased viability after ionizing radiation
- Lethal upon entry into mitosis
- Increased S DNA content, increased G2M DNA content
Animal Model Products
-
Taconic Biosciences Mouse Models for CASP8AP2
CRISPR Products
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-
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miRNA for CASP8AP2 Gene
- miRTarBase miRNAs that target CASP8AP2
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for CASP8AP2 - Select products 50% OFF >
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Cell Line Products
-
Horizon Cell Lines for CASP8AP2
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| endosome | 2 |
| cytosol | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nuclear bodies (2)
- Nucleoli (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,ISS | 19721136 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA,ISS | 19721136 |
| GO:0005739 | mitochondrion | IDA, IBA | 17245429 |
| GO:0016605 | PML body | IDA, IBA | 17245429 |
Pathways & Interactions for CASP8AP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | TNFR1 Pathway |
Apoptosis and survival TNFR1 signaling pathway
.52
|
Fas Signaling
.35
|
| 2 | Apoptosis and survival Caspase cascade |
Apoptosis and survival FAS signaling cascades
.44
|
|
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
Interacting Proteins for CASP8AP2 Gene
Selected Interacting proteins:
Q9UKL3-C8AP2_HUMAN
ENSP00000478179
for CASP8AP2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CASP8AP2
| 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 | IEA,ISS | -- |
| GO:0036337 | Fas signaling pathway | IMP, IBA | 17245429 |
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 :
-
- ENST00000552401 1153 nts (view in UCSC)
- ENST00000419040 1280 nts (view in UCSC)
- ENST00000547893 2003 nts (view in UCSC)
- ENST00000237177 6719 nts (view in UCSC)
- ENST00000548224 1300 nts (view in UCSC)
CRISPR Products
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-
OriGene CRISPR knockouts for CASP8AP2
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-
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miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for CASP8AP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CASP8AP2
| 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
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.558218Evidence on tissue expression from TISSUES for CASP8AP2 Gene
- Blood(4.3)
Primer Products
-
OriGene qPCR primer pairs for CASP8AP2
Gene Expression Assay 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 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CASP8AP2 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | CASP8AP2 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | CASP8AP2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Casp8ap2 30 17 |
|
||
| Rat (Rattus norvegicus) |
Mammalia | Casp8ap2 30 |
|
- Species where no ortholog for CASP8AP2 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)
- 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 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)
- 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 |
| 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
SNP Genotyping and Copy Number Assay Products
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
- Open Targets Platform
No disorders were found for CASP8AP2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CASP8AP2 Gene
Publications for CASP8AP2 Gene
- 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
- 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
- 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
- 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
- Interaction of FLASH with arsenite resistance protein 2 is involved in cell cycle progression at S phase. (PMID: 19546234) Kiriyama M … Yonehara S (Molecular and cellular biology 2009) 3 4
ExternalLinks
Products for CASP8AP2 Gene
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- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
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- antibodies-online: Show 11 available FLASH Antibodies ranked by validation data
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- Boster Bio Antibodies for CASP8AP2
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Sources for CASP8AP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
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