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CASP10 Gene

protein-coding   GIFtS: 74
GCID: GC02P202047

Caspase 10, Apoptosis-Related Cysteine Peptidase

(Previous names: caspase 10, apoptosis-related cysteine protease)
  See CASP10-related diseases
at  

(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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Aliases
Caspase 10, Apoptosis-Related Cysteine Peptidase1 2     ICE-Like Apoptotic Protease 42 3
MCH42 3 5     ALPS22 5
Caspase 10, Apoptosis-Related Cysteine Protease1 2     caspase-102
Apoptotic Protease Mch-42 3     FADD-Like ICE22
CASP-102 3     Interleukin-1B-Converting Enzyme 22
FLICE22 3     EC 3.4.22.633
FAS-Associated Death Domain Protein Interleukin-1B-Converting Enzyme 22 3     

External Ids:    HGNC: 15001   Entrez Gene: 8432   Ensembl: ENSG000000034007   OMIM: 6017625   UniProtKB: Q928513   

Export aliases for CASP10 gene to outside databases

Previous GC identifers: GC02P200264 GC02P200772 GC02P202011 GC02P202250 GC02P202223 GC02P201873 GC02P201756 GC02P193898


(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 CASP10 Gene:
This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential
activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive
proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and
small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the
protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune
lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants
encoding different isoforms have been described for this gene. (provided by RefSeq, Apr 2011)

GeneCards Summary for CASP10 Gene:
CASP10 (caspase 10, apoptosis-related cysteine peptidase) is a protein-coding gene. Diseases associated with CASP10 include autoimmune lymphoproliferative syndrome, type ib, and autoimmune lymphoproliferative syndrome, type ii. GO annotations related to this gene include cysteine-type endopeptidase activity. An important paralog of this gene is CASP16.

UniProtKB/Swiss-Prot: CASPA_HUMAN, Q92851
Function: Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both
Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways.
Cleaves and activates caspase-3, -4, -6, -7, -8, and -9. Hydrolyzes the small- molecule substrates,
Tyr-Val-Ala-Asp- -AMC and Asp-Glu-Val-Asp- -AMC
Function: Isoform C is proteolytically inactive

summary for CASP10 Gene:
Caspases (short for 'cysteinyl aspartate proteases') are involved in the signal transduction pathways of
apoptosis, necrosis and inflammation. These enzymes can be divided into two major classes - initiators and
effectors. The initiator isoforms (caspases-1,-4,-5,-8,-9,-10,-11,-12) are activated by, and interact with,
upstream adaptor molecules through protein-protein interaction domains known as CARD and DED. Effector
caspases (-3,-6,-7) are responsible for cleaving downstream substrates and are sometimes referred to as the
executioner caspases. More than 400 caspase substrates have so far been identified (see The Caspase
Substrate Database). Initiator caspases, such as caspase 8, may be directly activated by death receptors
such as FasR. Caspases can also be found intracellularly as part of large multiprotein complexes. For
example, caspase 9 is recruited to the apoptosome formed during apoptosis, whilst caspases-1 and 5 can form
part of the inflammasome, a key part of cytokine processing during inflammation. Caspases are regulated by
inhibitors of apoptosis and by dominant negative isoforms. They have been implicated in the pathogenesis of
many disorders including stroke, Alzheimer's disease, myocardial infarction, cancer, and inflammatory
disease.

Gene Wiki entry for CASP10 (Caspase 10) 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 at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CASP10 gene promoter:
         p53   AP-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCASP10 promoter sequence
   Search Chromatin IP Primers for CASP10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CASP10


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

Entrez Gene cytogenetic band: 2q33-q34   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33-q34

CASP10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASP10 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P202047:  view genomic region     (about GC identifiers)

Start:
202,047,604 bp from pter      End:
202,094,129 bp from pter
Size:
46,526 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CASPA_HUMAN, Q92851 (See protein sequence)
Recommended Name: Caspase-10 precursor  
Size: 521 amino acids; 58951 Da
Subunit: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 23/17 kDa
(p23/17) (depending on the splicing events) and a 12 kDa (p12) subunit (By similarity). Self-associates.
Interacts with FADD and CASP8. Found in a Fas signaling complex consisting of FAS, FADD, CASP8 and CASP10.
Interacts with RFFL
Secondary accessions: Q68HC0 Q6KF62 Q6KF63 Q8IUP5 Q8WYQ8 Q99845 Q9Y2U6 Q9Y2U7
Alternative splicing: 7 isoforms:  Q92851-1   Q92851-2   Q92851-4   Q92851-3   Q92851-5   Q92851-6   Q92851-7   (Variant in position: 455:L->I (in dbSNP:rs13006529))

Explore the universe of human proteins at neXtProt for CASP10: NX_Q92851

Explore proteomics data for CASP10 at MOPED

Post-translational modifications: 

  • Cleavage by granzyme B and autocatalytic activity generate the two active subunits1
  • Ubiquitination2 at Lys192, Lys271
  • Modification sites at PhosphoSitePlus

  • See CASP10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001193453.1  NP_001193471.1  NP_001221.2  NP_116756.2  NP_116758.1  NP_116759.2  

    ENSEMBL proteins: 
     ENSP00000286186   ENSP00000272879   ENSP00000401914   ENSP00000363781   ENSP00000237865  
     ENSP00000314599   ENSP00000396835   ENSP00000353250  
    Reactome Protein details: Q92851

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    Cloud-Clone Corp. Proteins for CASP10

     
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    antibodies-online proteins for CASP10 (10 products) 

     
    antibodies-online peptides for CASP10

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    antibodies-online antibodies for CASP10 (116 products) 

    CASP10 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CASP: Caspases

    IUPHAR Guide to PHARMACOLOGY protein family classification: Caspase 10
    Caspases

    Selected InterPro protein domains (see all 7):
     IPR001309 Pept_C14_ICE_p20
     IPR011029 DEATH-like_dom
     IPR002138 Pept_C14_p10
     IPR015917 Pept_C14A_p45_core
     IPR011600 Pept_C14_caspase

    Graphical View of Domain Structure for InterPro Entry Q92851

    ProtoNet protein and cluster: Q92851

    2 Blocks protein domains:
    IPB001309 Caspase-1
    IPB001875 Death effector protein


    UniProtKB/Swiss-Prot: CASPA_HUMAN, Q92851
    Similarity: Belongs to the peptidase C14A family
    Similarity: Contains 2 DED (death effector) domains


    Find genes that share domains with CASP10           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CASPA_HUMAN, Q92851
    Function: Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both
    Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways.
    Cleaves and activates caspase-3, -4, -6, -7, -8, and -9. Hydrolyzes the small- molecule substrates,
    Tyr-Val-Ala-Asp- -AMC and Asp-Glu-Val-Asp- -AMC
    Function: Isoform C is proteolytically inactive
    Catalytic activity: Strict requirement for Asp at position P1 and has a preferred cleavage sequence of
    Leu-Gln-Thr-Asp- -Gly
    Enzyme regulation: Negatively regulated by RFFL through proteasomal degradation

         Genatlas biochemistry entry for CASP10:
    caspase 10,cysteine containing aspartate-specific protease,expressed in fetal lung,kidney,skeletal muscle,stored
    in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic stimuli,recruited
    to the CD99 and p55 tumor necrosis factor receptor signaling complexes and promoting CD95 (APO1/Fas)
    apoptosis,homolog to C elegans cell death gene Ced-3

         Enzyme Number (IUBMB): EC 3.4.22.631

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197cysteine-type endopeptidase activity TAS10412980
    GO:0005515protein binding IPI12884866
    GO:0008234cysteine-type peptidase activity ----
    GO:0031625ubiquitin protein ligase binding IPI15069192
    GO:0035877death effector domain binding IPI11717445
         
    Find genes that share ontologies with CASP10           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CASP10:
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CASP10

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    Selected qRT-PCR Assays for microRNAs that regulate CASP10 (see all 10):
    hsa-miR-181c hsa-miR-561 hsa-miR-222 hsa-miR-181a hsa-miR-221 hsa-miR-181d hsa-miR-1207-3p hsa-miR-145
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CASP10

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    Sino Biological Human cDNA Clone for CASP10
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane4
    mitochondrion2
    nucleus2
    golgi apparatus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IBA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0031265CD95 death-inducing signaling complex IDA11717445
    GO:0097342ripoptosome IDA--

    Find genes that share ontologies with CASP10           About GenesLikeMe


    (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 CASP10 About   (see all 32)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Caspase cascade
    Apoptosis and survival Caspase cascade0.44
    FAS pathway and Stress induction of HSP regulation0.44
    Apoptosis and survival FAS signaling cascades0.44
    Caspase cascade in apoptosis0.42
    2TWEAK Pathway
    Apoptosis and survival TNFR1 signaling pathway0.52
    Apoptosis through Death Receptors0.42
    GITR Pathway0.46
    Fas Signaling0.35
    3RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways0.47
    NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -100.00
    RIG-I-like receptor signaling pathway0.47
    4p53 Signaling
    p53 Signaling0.38
    p53 Pathway0.38
    5Apoptosis (KEGG)
    14-3-3 Induced Apoptosis0.37
    Apoptosis0.37


    Find genes that share SuperPaths with CASP10           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for CASP10
        Apoptosis Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CASP10 (see all 16)
        Caspase Cascade
    S-1P Stimulated Signaling
    14-3-3 Induced Apoptosis
    DHA Signaling
    Endothelin-1 Signaling Pathway

    1 Cell Signaling Technology (CST) Pathway for CASP10
        Apoptosis and Autophagy

    2 Tocris Bioscience Pathways for CASP10
        Apoptosis Pathway
    VEGF Pathway

    4 GeneGo (Thomson Reuters) Pathways for CASP10
        Apoptosis and survival Apoptotic TNF-family pathways
    Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades
    Apoptosis and survival TNFR1 signaling pathway

    Selected BioSystems Pathways for CASP10 (see all 9)
        Apoptosis
    Apoptosis Modulation and Signaling
    FAS pathway and Stress induction of HSP regulation
    TNF-alpha/NF-kB Signaling Pathway
    Integrated Pancreatic Cancer Pathway

    3 Sino Biological Pathways for CASP10
        EGFR Signaling Pathway
    p53 Pathway
    Death Receptor Signaling

    3 Reactome Pathways for CASP10
        FasL/ CD95L signaling
    NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
    TRAIL signaling


    5 Kegg Pathways  (Kegg details for CASP10):
        Apoptosis
    RIG-I-like receptor signaling pathway
    TNF signaling pathway
    Tuberculosis
    Hepatitis B

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CASP10: 
              Antiviral Response in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CASP10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CASP10 (Q928511, 2, 3 ENSP000002861864) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASP8Q147901, 2, 3, ENSP000003512734EBI-495095,EBI-78060 MINT-4055393 I2D: score=5 STRING: ENSP00000351273
    FADDQ131582, 3, ENSP000003018384MINT-16276 MINT-16275 I2D: score=6 STRING: ENSP00000301838
    CFLARO155191, 3, ENSP000003124554EBI-495095,EBI-514941 I2D: score=4 STRING: ENSP00000312455
    FASLGP480232, 3, ENSP000003566944MINT-1956332 I2D: score=3 STRING: ENSP00000356694
    RIPK1Q135461, 3, ENSP000002598084EBI-495095,EBI-358507 I2D: score=2 STRING: ENSP00000259808
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006915apoptotic process TAS--
    GO:0042981regulation of apoptotic process IEA--
    GO:0043123positive regulation of I-kappaB kinase/NF-kappaB signaling RCA19641626
    GO:0045087innate immune response TAS--

    Find genes that share ontologies with CASP10           About GenesLikeMe



    (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
       Enzo Life Sciences drugs & compounds for CASP10
    Selected ApexBio Compounds for CASP10 (see all 12)     About this table
    CompoundAction CAS #
    Apoptosis InhibitorCell-permeable caspase-3 inhibitor[54135-60-3]
    Caspase-3/7 Inhibitor ICell-permeable and irreversible inhibitor of caspase-3 and -7[220509-74-0]
    CisplatinChemotherapy agent, induces apoptosis[15663-27-1]
    PAC-1Procaspase-activating compound, activates procaspase-3 and converts it to caspase-3[315183-21-2]
    Q-VD-OphCell-permeable, irreversible pan-caspase inhibitor[1135695-98-5]
    VX-765 Novel Caspase-1 inhibitor[273404-37-8]
    Z-DEVD-FMKCell-permeable, and irreversible caspase-3 inhibitor[210344-95-9]
    Z-DQMD-FMKCell-permeable caspase-3 inhibitor--
    Z-FA-FMKEffector caspases 2, 3, 5, and 7--
    Z-VAD-FMKCell-permeable, irreversible pan-caspase inhibitor[187389-52-2]

    Compounds for CASP10 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    AZ 10417808Selective non-peptide caspase-3 inhibitor[331645-84-2]
    Z-DQMD-FMKCaspase-3 inhibitor--
    CisplatinPotent pro-apoptotic anticancer agent; activates caspase-3[15663-27-1]
    Z-DEVD-FMK Cell-permeable, irreversible caspase-3 inhibitor --
    Z-VAD-FMK Cell-permeable, irreversible caspase inhibitor [187389-52-2]

    4 Novoseek inferred chemical compound relationships for CASP10 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 32.4 4 8962078 (1), 10187817 (1), 8755496 (1)
    paclitaxel 22 8 15452117 (3), 17652622 (2), 18575755 (1), 16579975 (1)
    actinomycin d 6.07 1 16538385 (1)
    serine 0 2 8755496 (1), 9334372 (1)



    Find genes that share compounds with CASP10           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CASP10 gene (6 alternative transcripts): 
    NM_001206524.1  NM_001206542.1  NM_001230.4  NM_032974.4  NM_032976.3  NM_032977.3  

    Unigene Cluster for CASP10:

    Caspase 10, apoptosis-related cysteine peptidase
    Hs.5353  [show with all ESTs]
    Unigene Representative Sequence: NM_032977
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000286186(uc002uxj.1) ENST00000460140 ENST00000272879(uc002uxl.2 uc002uxm.2)
    ENST00000438843 ENST00000374650(uc002uxi.1) ENST00000346817 ENST00000313728
    ENST00000448480 ENST00000484926 ENST00000492363 ENST00000471191 ENST00000485408
    ENST00000360132(uc010zhn.1 uc010ftb.2 uc010fta.1 uc002uxk.1)

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    eBioscience FlowRNA Probe Sets ( VA1-12313) for CASP10 

    Additional mRNA sequence: 

    AF111345.1 AJ487678.1 AJ487679.1 AK225475.1 AK304859.1 AK310746.1 AY690601.3 BC042844.1 
    U60519.1 

    11 DOTS entries:

    DT.312858  DT.100813215  DT.99963912  DT.120982612  DT.92422386  DT.312859  DT.102828527  DT.95179407 
    DT.70104279  DT.97837542  DT.100683221 

    Selected AceView cDNA sequences (see all 77):

    NM_032976 BI821101 NM_001230 BF593184 AA927774 NM_032977 AL698180 AI224166 
    BU150820 BQ709553 CA427402 AA361873 NM_032974 AI651986 CA426134 AI341078 
    AF111345 AJ487679 AA258856 BC042844 BF002154 BM768802 BQ029976 BM546086 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CASP10 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d ^ 12a ·
    SP1:                                                  -                 -                 -           -                             -     -     -     -         
    SP2:                                                  -                 -                 -           -                                                         
    SP3:                                                  -                 -                 -           -     -     -                                             
    SP4:                                                  -                 -                 -           -           -     -                                       
    SP5:                                                  -                 -                 -           -     -     -                 -     -     -     -         

    ExUns: 12b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CASP10

    (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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    CASP10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACAGTAAAT
    CASP10 Expression
    About this image


    CASP10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Stomach (Gastrointestinal Tract)
    CASP10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CASP10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.5353

    UniProtKB/Swiss-Prot: CASPA_HUMAN, Q92851
    Tissue specificity: Detectable in most tissues. Lowest expression is seen in brain, kidney, prostate, testis and
    colon

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CASP10: 
              Antiviral Response in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CASP10 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia CASP101 caspase 10, apoptosis-related cysteine peptidase 81(n)
    72.44(a)
      488472  XM_005640530.1  XP_005640587.1 
    chicken
    (Gallus gallus)
    Aves CASP101 caspase 10, apoptosis-related cysteine peptidase 55.22(n)
    47.99(a)
      424081  XM_421936.4  XP_421936.4 
    lizard
    (Anolis carolinensis)
    Reptilia CASP106
    caspase 10, apoptosis-related cysteine peptidase
    43(a)
    1 ↔ 1
    GL343478.1(364163-382863)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB038173.12   -- 71.47(n)    AB038173.1 
    zebrafish
    (Danio rerio)
    Actinopterygii casp8l21 caspase 8, apoptosis-related cysteine peptidase, like more 47.51(n)
    36.81(a)
      557302  XM_680338.6  XP_685430.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dcp-16
    Ice6
    (see all 3)
    Ice
    (see all 3)
    29(a)
    28(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2R(19438838-19441079)
    3R(25625375-25627307)


    ENSEMBL Gene Tree for CASP10 (if available)
    TreeFam Gene Tree for CASP10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CASP10 gene
    CASP162  CASP62  CASP82  CASP122  CASP92  CASP72  CASP32  CASP22  
    CASP142  CASP12  CASP52  CASP42  
    1 SIMAP similar gene for CASP10 using alignment to 2 protein entries:     CASPA_HUMAN (see all proteins):
    CASP8

    Find genes that share paralogs with CASP10           About GenesLikeMe



    (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)
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    Selected SNPs for CASP10 (see all 988)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219097761,2,,4
    CGastric cancer (GASC)4 other1201442202(+) TGAAAC/TGGTGA 12 T M mis10--------
    rs178604031,2,,4
    CAutoimmune lymphoproliferative syndrome 2A (ALPS2A)4 pathogenic1201462519(+) GAGGCC/TTCTGT 11 L F P mis1 int1 ese31Minor allele frequency- T:0.00NA 2
    rs803582391,2,,4
    C,FAutoimmune lymphoproliferative syndrome 2A (ALPS2A)4 pathogenic1201463768(+) AAGAGA/C/TTACAG 17 I L mis1 ut312NA EU 5873
    rs289366991,2,,4
    CFamilial non-Hodgkin lymphoma (NHL)4 other1201463793(+) CGAAGC/TAGATG 11 A V mis1 ut310--------
    rs178604051,2,,4
    C,Fnon-pathogenic1201463889(+) AGGCTA/GTGTAT 11 Y C mis1 ut31 ese312Minor allele frequency- G:0.03NS NA EU 6559
    rs130106271,2,,4
    C,F,Hpathogenic1201463780(+) CTTCCG/ATATCC 11 /I /V mis1 ut31 ese328Minor allele frequency- A:0.04NS EA MN WA NA EU 8571
    rs1502348541,2
    --201435600(+) GAACTA/GGGGTA 6 -- us2k10--------
    rs1815265581,2
    --201435607(+) GGTAGC/TGAGTA 6 -- us2k10--------
    rs414970471,2
    C,F--201435632(+) GCTCCG/AGCCCC 6 -- us2k15Minor allele frequency- A:0.01NS 174
    rs1901991701,2
    --201435686(+) CTTTCG/TCTGTC 6 -- us2k10--------

    HapMap Linkage Disequilibrium report for CASP10 (202047604 - 202094129 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CASP10:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv821874CNV Loss20364138

    Human Gene Mutation Database (HGMD): CASP10
    Locus Specific Mutation Databases (LSDB): CASP10

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CASP10
    DNA2.0 Custom Variant and Variant Library Synthesis for CASP10

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

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    OMIM gene information: 601762   
    OMIM disorders: 603909  605027  613659  
    UniProtKB/Swiss-Prot: CASPA_HUMAN, Q92851
  • Autoimmune lymphoproliferative syndrome 2A (ALPS2A) [MIM:603909]: A disorder of apoptosis that manifests
    in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by
    non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and
    neutropenia. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Familial non-Hodgkin lymphoma (NHL) [MIM:605027]: Cancer that starts in cells of the lymph system, which
    is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes,
    fever and weight loss. Note=The gene represented in this entry is involved in disease pathogenesis
  • Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the
    esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It
    also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to
    adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types
    are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated
    infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually
    exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in
    sporadic disease. Note=The gene represented in this entry is involved in disease pathogenesis

  • 12 diseases for CASP10:    
    About MalaCards
    autoimmune lymphoproliferative syndrome, type ib    autoimmune lymphoproliferative syndrome, type ii    familial non-hodgkin lymphoma    non-hodgkin lymphoma
    hodgkin's lymphoma    lymphoma, non-hodgkin, somatic    casp10-related autoimmune lymphoproliferative syndrome    autoimmune lymphoproliferative syndrome
    talipes equinovarus    gastric cancer, somatic    acute disseminated encephalomyelitis    myocardial infarction

    1 disease from the University of Copenhagen DISEASES database for CASP10:
    Autoimmune lymphoproliferative syndrome

    Find genes that share disorders with CASP10           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CASP10 gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autoimmune lymphoproliferative syndrome 90.4 8 11717445 (1), 16446975 (1), 18818883 (1), 10412980 (1) (see all 8)
    autoimmune lymphoproliferative syndrome, type ii 88.7 2 10412980 (1), 11397650 (1)
    necrosis 54.5 12 9045686 (2), 15767684 (2), 11717445 (1), 14687710 (1) (see all 9)
    tumors 43.4 17 9045686 (2), 16767158 (2), 15767684 (2), 11717445 (1) (see all 12)
    melanoma 32.1 3 15707589 (2), 17160022 (1)
    leukaemia lymphocytic 27.4 1 16579975 (1)
    cancer 23.8 10 18716417 (3), 12588423 (1), 19900088 (1), 18563783 (1) (see all 6)
    lymphadenopathy 23.6 1 12353035 (1)
    leukemia 23.3 4 19900088 (2)
    gastric carcinoma 16.9 7 20025484 (1), 14714615 (1)

    GeneTests: CASP10
    GeneReviews: CASP10
    Genetic Association Database (GAD): CASP10
    Human Genome Epidemiology (HuGE) Navigator: CASP10 (37 documents)

    Export disorders for CASP10 gene to outside databases

    (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)
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    PubMed articles for CASP10 gene, integrated from 10 sources (see all 224):
    (articles sorted by number of sources associating them with CASP10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutational analysis of CASP10 gene in acute leukaemias and multiple myelomas. (PubMed id 19900088)1, 2, 4, 9 Kim M.S.... Lee S.H. (Pathology 2009)
    2. In vitro activation of CPP32 and Mch3 by Mch4, a novel human apoptotic cysteine protease containing two FADD-like domains. (PubMed id 8755496)1, 2, 3, 9 Fernandes-Alnemri T.... Alnemri E.S. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    3. Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma. (PubMed id 18563783)1, 2, 4, 9 Li C.... Wei Q. (Hum. Mutat. 2008)
    4. Mutational analysis of CASP10 gene in colon, breast, lung and hepatocellular carcinomas. (PubMed id 20025484)1, 2, 9 Oh J.E.... Yoo N.J. (Pathology 2010)
    5. Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas. (PubMed id 12010812)1, 2, 9 Shin M.S.... Lee S.H. (Blood 2002)
    6. Molecular cloning and characterization of two novel pro-apoptotic isoforms of caspase-10. (PubMed id 10187817)1, 2, 9 Ng P.W.... Janicke R.U. (J. Biol. Chem. 1999)
    7. Fas-associated death domain protein interleukin-1beta-converting enzyme 2 (FLICE2), an ICE/Ced-3 homologue, is proximally involved in CD95- and p55-mediated death signaling. (PubMed id 9045686)1, 2, 9 Vincenz C. and Dixit V.M. (J. Biol. Chem. 1997)
    8. Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. (PubMed id 16446975)1, 2, 9 Zhu S.... Puck J.M. (Hum. Genet. 2006)
    9. Caspase-10 is an initiator caspase in death receptor signaling. (PubMed id 11717445)1, 2, 9 Wang J.... Lenardo M.J. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    10. Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. (PubMed id 10412980)1, 2, 9 Wang J.... Lenardo M.J. (Cell 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 843 HGNC: 1500 AceView: CASP10 Ensembl:ENSG00000003400 euGenes: HUgn843
    ECgene: CASP10 Kegg: 843 H-InvDB: CASP10

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CASP10 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CASP10 Genetics and Cytogenetics in Oncology and Haematology
    CASP10basehttp://bioinf.uta.fi/CASP10base/
    Autoimmune Lymphoproliferative Syndrome Database (ALPSbase)http://research.nhgri.nih.gov/ALPS/alpsII_mut.shtml
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CASP10[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/casp10/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CASP10 gene:
    Search GeneIP for patents involving CASP10

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



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