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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 apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008]
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.
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 |
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 |
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
|
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 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: | |||||||||||||||||||||
SP3: | |||||||||||||||||||||
SP4: |
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 |
|
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 |
No disorders were found for CASP8AP2 Gene.