CASP8AP2 (caspase 8 associated protein 2)

Gene

• Entrez ID: 9994
• Gene name: Caspase 8 associated protein 2
• Gene symbol: CASP8AP2
• Synonyms (NCBI Gene): CED-4, FLASH, RIP25
• Chromosome: 6
• Chromosome location: 6q15
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006519	hsa-miR-210-3p	Luciferase reporter assay	19721136
MIRT006519	hsa-miR-210-3p	Luciferase reporter assay	19721136
MIRT043844	hsa-miR-330-3p	CLASH	23622248
MIRT040491	hsa-miR-598-3p	CLASH	23622248
MIRT006519	hsa-miR-210-3p	Luciferase reporter assay, qRT-PCR, Western blotting	33791918
MIRT006519	hsa-miR-210-3p	Luciferase reporter assay, qRT-PCR, Western blotting	33791918
MIRT006519	hsa-miR-210-3p	Western blotting, qRT-PCR	33088424
MIRT006519	hsa-miR-210-3p	Western blotting, qRT-PCR, Flow cytometry	31974607
MIRT864240	hsa-miR-4490	CLIP-seq
MIRT864241	hsa-miR-1303	CLIP-seq
MIRT864242	hsa-miR-4420	CLIP-seq
MIRT864243	hsa-miR-495	CLIP-seq
MIRT864241	hsa-miR-1303	CLIP-seq
MIRT864242	hsa-miR-4420	CLIP-seq
MIRT1956167	hsa-miR-4789-5p	CLIP-seq
MIRT864243	hsa-miR-495	CLIP-seq
MIRT864241	hsa-miR-1303	CLIP-seq
MIRT864242	hsa-miR-4420	CLIP-seq
MIRT2497085	hsa-miR-4728-3p	CLIP-seq
MIRT864243	hsa-miR-495	CLIP-seq
MIRT864241	hsa-miR-1303	CLIP-seq
MIRT864242	hsa-miR-4420	CLIP-seq
MIRT864240	hsa-miR-4490	CLIP-seq
MIRT2497085	hsa-miR-4728-3p	CLIP-seq
MIRT2677433	hsa-miR-4774-5p	CLIP-seq
MIRT864243	hsa-miR-495	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	12477726
GO:0005123	Function	Death receptor binding	TAS	10235259
GO:0005515	Function	Protein binding	IPI	12477726, 15698540, 17245429, 21338522, 21725362
GO:0005634	Component	Nucleus	IDA	12477726
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS	19721136
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	12477726, 17245429
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	19721136
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	17245429
GO:0005739	Component	Mitochondrion	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	TAS	10235259
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	IBA
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	IEA
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	IMP	17245429
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	ISS
GO:0008656	Function	Cysteine-type endopeptidase activator activity involved in apoptotic process	ISS
GO:0016505	Function	Peptidase activator activity involved in apoptotic process	ISS
GO:0016605	Component	PML body	IBA
GO:0016605	Component	PML body	IDA	17245429
GO:0016605	Component	PML body	IEA
GO:0032184	Function	SUMO polymer binding	IDA	23086935
GO:0036337	Process	Fas signaling pathway	IBA
GO:0036337	Process	Fas signaling pathway	IMP	17245429
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0097190	Process	Apoptotic signaling pathway	IEA
GO:0097190	Process	Apoptotic signaling pathway	TAS	10235259

Other IDs

• MIM: 606880
• HGNC: 1510
• e!Ensembl: ENSG00000118412

Protein

• UniProt ID: Q9UKL3
• Protein name: CASP8-associated protein 2 (FLICE-associated huge protein)
• Protein 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 transactiv
• PDB: 2LR8, 6ANO, 6AOZ, 6AP0
• Sequence:

  MAADDDNGDGTSLFDVFSASPLKNNDEGSLDIYAGLDSAVSDSASKSCVPSRNCLDLYEE
  ILTEEGTAKEATYNDLQVEYGKCQLQMKELMKKFKEIQTQNFSLINENQSLKKNISALIK
  TARVEINRKDEEISNLHQRLSEFPHFRNNHKTARTFDTVKTKDLKSRSPHLDDCSKTDHR
  AKSDVSKDVHHSTSLPNLEKEGKPHSDKRSTSHLPTSVEKHCTNGVWSRSHYQVGEGSSN
  EDSRRGRKDIRHSQFNRGTERVRKDLSTGCGDGEPRILEASQRLQGHPEKYGKGEPKTES
  KSSKFKSNSDSDYKGERINSSWEKETPGERSHSRVDSQSDKKLERQSERSQNINRKEVKS
  QDKEERKVDQKPKSVVKDQDHWRRSERASLPHSKNEITFSHNSSKYHLEERRGWEDCKRD
  KSVNSHSFQDGRCPSSLSNSRTHKNIDSKEVDAMHQWENTPLKAERHRTEDKRKREQESK
  EENRHIRNEKRVPTEHLQKTNKETKKTTTDLKKQNEPKTDKGEVLDNGVSEGADNKELAM
  KAESGPNETKNKDLKLSFMKKLNLTLSPAKKQPVSQDNQHKITDIPKSSGVCDSESSMQV
  KTVAYVPSISEHILGEAAVSEHTMGETKSTLLEPKVALLAVTEPRIGISETNKEDENSLL
  VRSVDNTMHCEEPICGTETSFPSPMEIQQTESLFPSTGMKQTINNGRAAAPVVMDVLQTD
  VSQNFGLELDTKRNDNSDYCGISEGMEMKVALSTTVSETTESILQPSIEEADILPIMLSE
  DNNPKFEPSVIVTPLVESKSCHLEPCLPKETLDSSLQQTELMDHRMATGETNSVYHDDDN
  SVLSIDLNHLRPIPEAISPLNSPVRPVAKVLRNESPPQVPVYNNSHKDVFLPNSAHSTSK
  SQSDLNKENQKPIYKSDKCTEADTCKNSPLDELEEGEIRSDSETSKPQESFEKNSKRRVS
  ADVRKSKTIPRRGKSTVCLDKDSRKTHVRIHQTNNKWNKRPDKSSRSSKTEKKDKVMSTS
  SLEKIVPIIAVPSSEQEIMHMLRMIRKHVRKNYMKFKAKFSLIQFHRIIESAILSFTSLI
  KHLNLHKISKSVTTLQKNLCDIIESKLKQVKKNGIVDRLFEQQLPDMKKKLWKFVDDQLD
  YLFAKLKKILVCDSKSFGRDSDEGKLEKTSKQNAQYSNSQKRSVDNSNRELLKEKLSKSE
  DPVHYKSLVGCKKSEENYQDQNNSSINTVKHDIKKNFNICFDNIKNSQSEERSLEVHCPS
  TPKSEKNEGSSIEDAQTSQHATLKPERSFEILTEQQASSLTFNLVSDAQMGEIFKSLLQG
  SDLLDSSVNCTEKSEWELKTPEKQLLETLKCESIPACTTEELVSGVASPCPKMISDDNWS
  LLSSEKGPSLSSGLSLPVHPDVLDESCMFEVSTNLPLSKDNVCSVEKSKPCVSSILLEDL
  AVSLTVPSPLKSDGHLSFLKPDMSSSSTPEEVISAHFSEDALLEEEDASEQDIHLALESD
  NSSSKSSCSSSWTSRSVAPGFQYHPNLPMHAVIMEKSNDHFIVKIRRATPSTSSGLKQSM
  MPDELLTSLPRHGKEADEGPEKEYISCQNTVFKSVEELENSNKNVDGSKSTHEEQSSMIQ
  TQVPDIYEFLKDASDKMGHSDEVADECFKLHQVWETKVPESIEELPSMEEISHSVGEHLP
  NTYVDLTKDPVTETKNLGEFIEVTVLHIDQLGCSGGNLNQSAQILDNSLQADTVGAFIDL
  TQDASSEAKSEGNHPALAVEDLGCGVIQVDEDNCKEEKAQVANRPLKCIVEETYIDLTTE
  SPSSCEVKKDELKSEPGSNCDNSELPGTLHNSHKKRRNISDLNHPHKKQRKETDLTNKEK
  TKKPTQDSCENTEAHQKKASKKKAPPVTKDPSSLKATPGIKDSSAALATSTSLSAKNVIK
  KKGEIIILWTRNDDREILLECQKRGPSFKTFAYLAAKLDKNPNQVSERFQQLMKLFEKSK
  CR

• Sequence length: 1982

Pathways

Reactome:

SUMOylation of transcription cofactors

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24397596, 29250188		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17696945		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29250188		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31097580		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31097580		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30139967		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17696945		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	16627760, 20109966, 21696825, 23953914, 24397596, 29250188, 29568235		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	30955880		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18038312, 25599959		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18038312		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22216762	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30955880		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29887399		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29611084		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31097580		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29402319		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29402319		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	9330016		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	16210821		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	16627760, 29914415, 32142900, 36162009	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17696945, 22595458, 31010709		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25599959		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31097580		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16210821, 20012355, 22216762, 27929715, 28655432, 29172684, 31010709, 31097580, 31253466, 31303340, 31748640		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	30905357		★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	30034609		★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	30905357		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	31299678		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	24397596		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	31303340		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	29388798		★☆☆☆☆ Found in Text Mining only