• Gene id: 9994

Gene Summary

• Gene Symbol: CASP8AP2   Gene   UCSC   Ensembl
• Aliases: CED-4, FLASH, RIP25
• Gene name: caspase 8 associated protein 2
• Alternate names: CASP8-associated protein 2, FLASH homolog RIP25, FLICE associated huge, FLICE-associated huge protein, human FLASH,
• Gene location: 6q15 (89829879: 89874435)     Exons: 10     NC_000006.12
• Gene summary(Entrez): 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 com
• OMIM: 300521

Protein Summary

• Protein general information: Q9UKL3  
  • Name: CASP8 associated protein 2 (FLICE associated huge protein)
  • Length: 1982  
  • Mass: 222658
• Sequence:

  MAADDDNGDGTSLFDVFSASPLKNNDEGSLDIYAGLDSAVSDSASKSCVPSRNCLDLYEEILTEEGTAKEATYND
  LQVEYGKCQLQMKELMKKFKEIQTQNFSLINENQSLKKNISALIKTARVEINRKDEEISNLHQRLSEFPHFRNNH
  KTARTFDTVKTKDLKSRSPHLDDCSKTDHRAKSDVSKDVHHSTSLPNLEKEGKPHSDKRSTSHLPTSVEKHCTNG
  VWSRSHYQVGEGSSNEDSRRGRKDIRHSQFNRGTERVRKDLSTGCGDGEPRILEASQRLQGHPEKYGKGEPKTES
  KSSKFKSNSDSDYKGERINSSWEKETPGERSHSRVDSQSDKKLERQSERSQNINRKEVKSQDKEERKVDQKPKSV
  VKDQDHWRRSERASLPHSKNEITFSHNSSKYHLEERRGWEDCKRDKSVNSHSFQDGRCPSSLSNSRTHKNIDSKE
  VDAMHQWENTPLKAERHRTEDKRKREQESKEENRHIRNEKRVPTEHLQKTNKETKKTTTDLKKQNEPKTDKGEVL
  DNGVSEGADNKELAMKAESGPNETKNKDLKLSFMKKLNLTLSPAKKQPVSQDNQHKITDIPKSSGVCDSESSMQV
  KTVAYVPSISEHILGEAAVSEHTMGETKSTLLEPKVALLAVTEPRIGISETNKEDENSLLVRSVDNTMHCEEPIC
  GTETSFPSPMEIQQTESLFPSTGMKQTINNGRAAAPVVMDVLQTDVSQNFGLELDTKRNDNSDYCGISEGMEMKV
  ALSTTVSETTESILQPSIEEADILPIMLSEDNNPKFEPSVIVTPLVESKSCHLEPCLPKETLDSSLQQTELMDHR
  MATGETNSVYHDDDNSVLSIDLNHLRPIPEAISPLNSPVRPVAKVLRNESPPQVPVYNNSHKDVFLPNSAHSTSK
  SQSDLNKENQKPIYKSDKCTEADTCKNSPLDELEEGEIRSDSETSKPQESFEKNSKRRVSADVRKSKTIPRRGKS
  TVCLDKDSRKTHVRIHQTNNKWNKRPDKSSRSSKTEKKDKVMSTSSLEKIVPIIAVPSSEQEIMHMLRMIRKHVR
  KNYMKFKAKFSLIQFHRIIESAILSFTSLIKHLNLHKISKSVTTLQKNLCDIIESKLKQVKKNGIVDRLFEQQLP
  DMKKKLWKFVDDQLDYLFAKLKKILVCDSKSFGRDSDEGKLEKTSKQNAQYSNSQKRSVDNSNRELLKEKLSKSE
  DPVHYKSLVGCKKSEENYQDQNNSSINTVKHDIKKNFNICFDNIKNSQSEERSLEVHCPSTPKSEKNEGSSIEDA
  QTSQHATLKPERSFEILTEQQASSLTFNLVSDAQMGEIFKSLLQGSDLLDSSVNCTEKSEWELKTPEKQLLETLK
  CESIPACTTEELVSGVASPCPKMISDDNWSLLSSEKGPSLSSGLSLPVHPDVLDESCMFEVSTNLPLSKDNVCSV
  EKSKPCVSSILLEDLAVSLTVPSPLKSDGHLSFLKPDMSSSSTPEEVISAHFSEDALLEEEDASEQDIHLALESD
  NSSSKSSCSSSWTSRSVAPGFQYHPNLPMHAVIMEKSNDHFIVKIRRATPSTSSGLKQSMMPDELLTSLPRHGKE
  ADEGPEKEYISCQNTVFKSVEELENSNKNVDGSKSTHEEQSSMIQTQVPDIYEFLKDASDKMGHSDEVADECFKL
  HQVWETKVPESIEELPSMEEISHSVGEHLPNTYVDLTKDPVTETKNLGEFIEVTVLHIDQLGCSGGNLNQSAQIL
  DNSLQADTVGAFIDLTQDASSEAKSEGNHPALAVEDLGCGVIQVDEDNCKEEKAQVANRPLKCIVEETYIDLTTE
  SPSSCEVKKDELKSEPGSNCDNSELPGTLHNSHKKRRNISDLNHPHKKQRKETDLTNKEKTKKPTQDSCENTEAH
  QKKASKKKAPPVTKDPSSLKATPGIKDSSAALATSTSLSAKNVIKKKGEIIILWTRNDDREILLECQKRGPSFKT
  FAYLAAKLDKNPNQVSERFQQLMKLFEKSKCR

• Structural information:
  • Interpro: IPR039674  IPR009057  
  • PDB: 2LR8 6ANO 6AOZ 6AP0
  • PDBsum: 2LR8 6ANO 6AOZ 6AP0
  • DIP: 40986
  • STRING: ENSP00000478179
• Other Databases: GeneCards:  CASP8AP2  Malacards:  CASP8AP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IBA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0036337	Fas signaling pathway	IBA	biological process
GO:0016605	PML body	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0032184	SUMO polymer binding	IDA	molecular function
GO:0016605	PML body	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IMP	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0036337	Fas signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0097190	apoptotic signaling pathway	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005123	death receptor binding	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0097190	apoptotic signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	ISS	biological process
GO:0016505	peptidase activator activity involved in apoptotic process	ISS	molecular function
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	ISS	biological process
GO:0071260	cellular response to mechanical stimulus	IEP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq