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CASP8AP2 Gene

protein-coding   GIFtS: 60
GCID: GC06P090539

Caspase 8 Associated Protein 2

(Previous name: CASP8 associated protein 2)
  See related diseases
at
MalaCards
 

Aliases
for CASP8AP2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Caspase 8 Associated Protein 21 2     CASP8-Associated Protein 22
FLICE-Associated Huge Protein1 2 3     FLASH Homolog RIP252
FLASH2 3 5     FLICE Associated Huge2
CASP8 Associated Protein 21 2     Human FLASH2
RIP252 3     KIAA13153
CED-42     

External Ids:    HGNC: 15101   Entrez Gene: 99942   Ensembl: ENSG000001184127   OMIM: 6068805   UniProtKB: Q9UKL33   
ORGUL members:         

Export aliases for CASP8AP2 gene to outside databases

Previous GC identifers: GC06P090485 GC06P090535 GC06P090597 GC06P090601 GC06P087756


Summaries
for CASP8AP2 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary 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. Diseases associated with CASP8AP2 include glucocorticoid resistance, and non-hodgkin lymphoma. GO annotations related to this gene include death receptor binding and transcription corepressor activity.

UniProtKB/Swiss-Prot: C8AP2_HUMAN, Q9UKL3
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

Gene Wiki entry for CASP8AP2 Gene


Genomic Views
for CASP8AP2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CASP8AP2 gene promoter:
         Nkx5-1   Tal-1beta   Roaz   Arnt   HNF-1A   HNF-1   TGIF   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CASP8AP2 promoter sequence
   Search Chromatin IP Primers for CASP8AP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CASP8AP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q15   Ensembl cytogenetic band:  6q15   HGNC cytogenetic band: 6q15

CASP8AP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASP8AP2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P090539:  view genomic region     (about GC identifiers)

Start:
 90,539,613 bp from pter      End:
 90,584,155 bp from pter
Size:
 44,543 bases      Orientation:
 plus strand

Proteins
for CASP8AP2 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: C8AP2_HUMAN, Q9UKL3 (See protein sequence)
Recommended Name: CASP8-associated protein 2  
Size: 1982 amino acids; 222658 Da
Subunit: 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
Sequence caution: Sequence=AAH56685.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence starting in position 364; Sequence=BAA92067.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
1 PDB 3D structure from and Proteopedia for CASP8AP2:
2LR8 (3D)    
Secondary accessions: A2RUB7 E1P553 Q6PH76 Q7LCQ7 Q86YD9 Q9NUQ4 Q9NZV9 Q9P2N1 Q9Y563

Explore the universe of human proteins at neXtProt for CASP8AP2: NX_Q9UKL3

Explore proteomics data for CASP8AP2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys92, Lys93
  • Modification sites at PhosphoSitePlus

    • See CASP8AP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001131139.1  NP_001131140.1  NP_036247.1  

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    CASP8AP2 Antibody Products:

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    CASP8AP2 Assay Products:

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    Cloud-Clone Corp. ELISAs for CASP8AP2
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    Domains /
    Families
    for CASP8AP2 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 1 InterPro protein domain:
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q9UKL3

    ProtoNet protein and cluster: Q9UKL3


    CASP8AP2 for domains           About GeneDecksing


    Function
    for CASP8AP2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C8AP2_HUMAN, Q9UKL3
    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
    Induction: By TNF which induces strong nuclear localization

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003714transcription corepressor activity IDA12477726
    GO:0005123death receptor binding TAS10235259
    GO:0005515protein binding IPI12477726
    GO:0008656cysteine-type endopeptidase activator activity involved in apoptotic process ISS--
         
    CASP8AP2 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for CASP8AP2:
     Cell division defect  Increased HPV18 LCR reporter a  Increased S DNA content, incre  Increased gamma-H2AX phosphory 
     S arrest 

         1 MGI mutant phenotype (inferred from 2 alleles) (MGI details for Casp8ap2):
     mortality/aging 

    CASP8AP2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CASP8AP2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASP8AP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASP8AP2

    miRNA
    Products:            		miRTarBase miRNAs that target CASP8AP2:
    hsa-mir-330-3p (MIRT043844), hsa-mir-210-3p (MIRT006519), hsa-mir-598-3p (MIRT040491)

    Block miRNA regulation of human, mouse, rat CASP8AP2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CASP8AP2 (see all 14):
    hsa-miR-323-3p hsa-miR-187* hsa-miR-300 hsa-miR-1283 hsa-miR-7-2* hsa-miR-381 hsa-miR-548o hsa-miR-545
    SwitchGear 3'UTR luciferase reporter plasmid: CASP8AP2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CASP8AP2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): CASP8AP2 (NM_001137667)
    Browse Sino Biological Human cDNA Clones
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    Cell Line
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    In Situ Assay
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    Localization
    for CASP8AP2 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    C8AP2_HUMAN, Q9UKL3: Cytoplasm. Nucleus. Nucleus, PML body. Mitochondrion. Note=Exported from the nucleus to the
    mitochondria upon FAS activation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12477726
    GO:0005737cytoplasm IDA12477726
    GO:0005739mitochondrion IDA17245429
    GO:0016605PML body IDA17245429

    CASP8AP2 for ontologies           About GeneDecksing


    Pathways & Interactions
    for CASP8AP2 gene

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CASP8AP2 About    
    See pathways by source

    SuperPathContained pathways About
    1TWEAK Pathway
    		Apoptosis and survival TNFR1 signaling pathway0.52
    		Fas Signaling0.35
    2Apoptosis and survival Caspase cascade
    		Apoptosis and survival FAS signaling cascades0.44
    3TNF-alpha/NF-kB Signaling Pathway
    		TNF-alpha/NF-kB Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CASP8AP2
        Fas Signaling

    2 GeneGo (Thomson Reuters) Pathways for CASP8AP2
        Apoptosis and survival FAS signaling cascades
    Apoptosis and survival TNFR1 signaling pathway

    1 BioSystems Pathway for CASP8AP2
        TNF-alpha/NF-kB Signaling Pathway


        Pathway & Disease-focused RT2 Profiler PCR Arrays including CASP8AP2: 
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Necrosis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CASP8AP2

    Selected Interacting proteins for CASP8AP2 (Q9UKL31, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASP8Q147901, 2, 3EBI-2339650,EBI-78060 MINT-18006 MINT-4298716 MINT-18007 MINT-4298767 MINT-4298744 I2D: score=3 
    SP100P234971, 2, 3EBI-2339650,EBI-751145 MINT-4298689 MINT-4298663 MINT-4298616 MINT-4298595 MINT-4298639 I2D: score=2 
    FADDQ131582, 3MINT-19104 I2D: score=3 
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process ISS--
    GO:0007049cell cycle IEA--
    GO:0007165signal transduction TAS10235259

    CASP8AP2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CASP8AP2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CASP8AP2 (C8AP2)



    Transcripts
    for CASP8AP2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CASP8AP2 gene (3 alternative transcripts): 
    NM_001137667.1  NM_001137668.1  NM_012115.3  

    Unigene Cluster for CASP8AP2:

    Caspase 8 associated protein 2
    Hs.558218  [show with all ESTs]
    Unigene Representative Sequence: BC150274
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000552401(processed_transcript) ENST00000419040(processed_transcript) ENST00000547893(processed_transcript) ENST00000237177(processed_transcript) ENST00000548224(processed_transcript)
    ENST00000551025(processed_transcript) ENST00000444163(processed_transcript)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CASP8AP2 (see all 14):
    hsa-miR-323-3p hsa-miR-187* hsa-miR-300 hsa-miR-1283 hsa-miR-7-2* hsa-miR-381 hsa-miR-548o hsa-miR-545
    SwitchGear 3'UTR luciferase reporter plasmid: CASP8AP2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat CASP8AP2

    Additional mRNA sequence: 

    AB037736.2 AF154415.1 AF164678.2 AF165161.1 AJ420582.1 AK002070.1 BC012574.1 BC027850.1 
    BC029386.1 BC042577.1 BC056685.1 BC132828.1 BC132830.1 BC150274.1 

    8 DOTS entries:

    DT.109577  DT.97782666  DT.101980468  DT.427892  DT.100699484  DT.121359284  DT.121614134  DT.91865531 

    Selected AceView cDNA sequences (see all 98):

    AW294409 AL603075 AL700551 BU681813 AA765960 AW612479 BM874653 BP363682 
    BM854732 AI887718 BU159683 AU138126 AI591001 BX503336 BM970205 AW440936 
    AL704321 CA430521 BC012574 BM714281 BP335969 N51265 BQ022238 BU076158 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CASP8AP2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:        -                                                         
    SP2:                                                                  
    SP3:                                                                  
    SP4:                                                                  


    ECgene alternative splicing isoforms for CASP8AP2

    Expression
    for CASP8AP2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CASP8AP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAGTTTTG
    CASP8AP2 Expression
    About this image

    CASP8AP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    CASP8AP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.558218
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CASP8AP2: 
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Necrosis in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP8AP2

    Orthologs
    for CASP8AP2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for CASP8AP2 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Casp8ap21 , 5 caspase 8 associated protein 21, 5 77.89(n)1
    67.06(a)1    		   4 (14.27 cM)5
    268851  NM_001122978.11  NP_001116450.11 
     326154515 
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia AL900866.22   -- 76.54(n)    AL900866.2 


    ENSEMBL Gene Tree for CASP8AP2 (if available)
    TreeFam Gene Tree for CASP8AP2 (if available)

    Paralogs
    for CASP8AP2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus    		  --

    Genomic Variants
    for CASP8AP2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for CASP8AP2 (see all 982)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs117589691,2
    		C,F,A,H--87755140(+) aaaatG/Taaaga 3 -- us2k14Minor allele frequency- T:0.13NA WA 242
    rs1819657251,2
    		C--87755154(+) AAAGGC/TGAGTG 3 -- us2k10--------
    rs1497861701,2
    		C--87755290(+) GAGACA/CTTGTC 3 -- us2k10--------
    rs2021429631,2
    		--87755298(+) TCTCT-/AAAAAA 3 -- us2k10--------
    rs1181912521,2
    		C--87755325(+) CCAGGC/TGCGGT 3 -- us2k11Minor allele frequency- T:0.01EA 120
    rs119698541,2
    		C,H--87755365(+) aaagcC/Tgaggc 3 -- us2k10--------
    rs1876109011,2
    		--87755492(+) GGAGGC/TTGAGG 3 -- us2k10--------
    rs1443771841,2
    		--87755579(+) CAAGAA/GTGAAA 3 -- us2k10--------
    rs355752021,2
    		C--87755594(+) GTCTC-/AAAAAA 3 -- us2k10--------
    rs1466420661,2
    		--87755631(+) AAATTG/TGTTGA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for CASP8AP2 (90539613 - 90584155 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CASP8AP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2732412CNV Deletion23290073
    nsv512888CNV Insertion21212237
    nsv5391CNV Insertion18451855
    esv997597CNV Insertion20482838
    nsv886340CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    Disorders / Diseases
    for CASP8AP2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606880    OMIM disorders: --

    11 diseases for CASP8AP2:    
    About MalaCards
    glucocorticoid resistance    non-hodgkin lymphoma    hodgkin's lymphoma    lymphoblastic leukemia
    hepatitis b    colorectal cancer    hepatitis    leukemia
    prostate cancer    hiv-1    prostatitis


    CASP8AP2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CASP8AP2
    Human Genome Epidemiology (HuGE) Navigator: CASP8AP2 (5 documents)

    Export disorders for CASP8AP2 gene to outside databases

    Publications
    for CASP8AP2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CASP8AP2 gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with CASP8AP2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. FLASH links the CD95 signaling pathway to the cell nucleus and nuclear bodies. (PubMed id 17245429)1, 2, 3, 9 Milovic-Holm K.... Hofmann T.G. (EMBO J. 2007)
    2. FLASH is required for histone transcription and S-phase progression. (PubMed id 17003125)1, 2, 9 Barcaroli D.... De Laurenzi V. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    3. FLASH is an essential component of Cajal bodies. (PubMed id 17003126)1, 3, 9 Barcaroli D....De Laurenzi V. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    4. PolySUMO-binding proteins identified through a string search. (PubMed id 23086935)1, 2 Sun H. and Hunter T. (J. Biol. Chem. 2012)
    5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    6. Genetic variation in caspase genes and risk of non-Hodgkin lymphoma: a pooled analysis of 3 population-based case-control studies. (PubMed id 19414860)1, 4 Lan Q....Wang S.S. (Blood 2009)
    7. Interaction of FLASH with arsenite resistance protein 2 is involved in cell cycle progression at S phase. (PubMed id 19546234)1, 2 Kiriyama M.... Yonehara S. (Mol. Cell. Biol. 2009)
    8. Common genetic variants in candidate genes and risk of familial lymphoid malignancies. (PubMed id 19573080)1, 4 Liang X.S....Goldin L.R. (Br. J. Haematol. 2009)
    9. Mutational analysis of FLASH and PTPN13 genes in colorectal carcinomas. (PubMed id 18038312)1, 4 Jeong E.G....Lee S.H. (Pathology 2008)
    10. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (Proteomics 2007)

    External Searches for CASP8AP2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CASP8AP2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 9994 HGNC: 1510 AceView: CASP8AP2 Ensembl:ENSG00000118412 euGenes: HUgn9994
    ECgene: CASP8AP2 H-InvDB: CASP8AP2

    Other Databases showing CASP8AP2 gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1315

    Specialized Databases showing CASP8AP2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CASP8AP2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CASP8AP2 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for CASP8AP2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for CASP8AP2 gene:
    Search GeneIP for patents involving CASP8AP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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