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 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
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
- Top Transcription factor binding sites by QIAGEN in the CASP8AP2 gene promoter:
-
- HNF-1
- HNF-1A
- Arnt
- TGIF
- Roaz
- ITF-2
- Tal-1beta
- Nkx5-1
Regulatory Element Products
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:
-
- 6q15 by Entrez Gene
- 6q15 by HGNC
- 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=Translation N-terminally extended.; 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
- Novus Biologicals Antibodies for CASP8AP2
-
Abcam antibodies for CASP8AP2
- Invitrogen Antibodies for CASP8AP2 (AFLGC-CASP8AP2)
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-
Boster Bio Antibodies for CASP8AP2
-
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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:
Graphical View of Domain Structure for InterPro Entry
No data available for 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:0003677 | DNA binding | IEA | -- |
| GO:0003714 | transcription corepressor activity | IDA | 12477726 |
| GO:0005123 | death receptor binding | TAS | 10235259 |
| GO:0005515 | protein binding | IPI | 10235259 |
| GO:0008656 | cysteine-type endopeptidase activator activity involved in apoptotic process | ISS,IEA | -- |
Phenotypes for CASP8AP2 Gene
- MGI mutant phenotypes for CASP8AP2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CASP8AP2:
-
- Increased HPV18 LCR reporter activity
- Decreased viability ratio
- Increased shRNA abundance (Z-score > 2)
- G0/1 arrest
- Increased G1 DNA content
- Dynamic nuclei (hole, folded or small irregular)
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability after ionizing radiation
- Decreased ionizing radiation sensitivity
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Decreased NF-kappaB reporter expression
- Mitotic arrest, spindle defect
- Decreased IL-8 secretion
- Increased viability
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- FOXO1 nuclear localization
Animal Model Products
-
Taconic Biosciences Mouse Models for CASP8AP2
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-
CRISPR Products
-
OriGene CRISPR knockouts for CASP8AP2
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- genomics-online: gRNA clones - Search results for 100 available FLASH gene related products
- Overview of 100 available FLASH gene related products
- Applied Biological Materials CRISPR for CASP8AP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA for CASP8AP2 Gene
- miRTarBase miRNAs that target CASP8AP2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CASP8AP2
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASP8AP2
- genomics-online: shRNA clones - Search results for 100 available FLASH gene related products
- Overview of 100 available FLASH gene related products
Clone Products
- Sino Biological Human cDNA Clone for CASP8AP2
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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.
- Nuclear bodies (2)
- Nucleoli (2)
| 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 |
No data available for Subcellular locations from COMPARTMENTS for CASP8AP2 Gene
Pathways & Interactions for CASP8AP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | TNFR1 Pathway |
.35
|
|
| 2 | Apoptosis and survival Caspase cascade | ||
Pathways by source for CASP8AP2 Gene
2 GeneGo (Thomson Reuters) pathways for CASP8AP2 Gene
1 Qiagen pathway for CASP8AP2 Gene
Interacting Proteins 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 |
Transcripts for CASP8AP2 Gene
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 :
-
- ENST00000552401 1153 bps (uc063qch.1)
- ENST00000419040 1280 bps (uc063qci.1)
- ENST00000547893 2003 bps (uc063qck.1)
- ENST00000237177 6719 bps (uc063qcl.1)
- ENST00000548224 1300 bps (uc063qcm.1)
Unigene Clusters for CASP8AP2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CASP8AP2
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- genomics-online: gRNA clones - Search results for 100 available FLASH gene related products
- Overview of 100 available FLASH gene related products
- Applied Biological Materials CRISPR for CASP8AP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CASP8AP2
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miRNA Products
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for 100 available FLASH gene related products
- Overview of 100 available FLASH gene related products
Clone Products
- Sino Biological Human cDNA Clone for CASP8AP2
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- Applied Biological Materials Clones for CASP8AP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||
| SP2: | |||||||||||||||||||||
| SP3: | |||||||||||||||||||||
| SP4: |
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
NURSA nuclear receptor signaling pathways regulating expression of CASP8AP2 Gene:
CASP8AP2SOURCE GeneReport for Unigene cluster for CASP8AP2 Gene:
Hs.558218Primer 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 , 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CASP8AP2 33 |
|
||
| dog (Canis familiaris) |
Mammalia | CASP8AP2 33 |
|
||
| cow (Bos Taurus) |
Mammalia | CASP8AP2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Casp8ap2 16 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Casp8ap2 33 |
|
- 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
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000050302 | -- | 89,837,276(+) | G/C | intron_variant | |
| rs1000130351 | -- | 89,854,252(+) | G/T | intron_variant | |
| rs1000136865 | -- | 89,852,116(+) | T/A | intron_variant | |
| rs1000167869 | -- | 89,837,346(+) | A/ | intron_variant | |
| rs1000170263 | -- | 89,869,945(+) | C/G | intron_variant |
| 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
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 22 58
- 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 22 58
- 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 22 58
- 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 58
- 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 SS (Blood 2009) 3 44 58
Products for CASP8AP2 Gene
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Sources for CASP8AP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
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