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CARD11 Gene

protein-coding   GIFtS: 66
GCID: GC07M002912

Caspase Recruitment Domain Family, Member 11

  See 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 Recruitment Domain Family, Member 111 2     BIMP32 5
CARMA12 3 5     IMD112 5
Bcl10-Interacting Maguk Protein 31 2     PPBL2 5
Carma 12 3     Card-Maguk Protein 11
CARD-Containing MAGUK Protein 12 3     Caspase Recruitment Domain-Containing Protein 112
BENTA2 5     

External Ids:    HGNC: 163931   Entrez Gene: 844332   Ensembl: ENSG000001982867   OMIM: 6072105   UniProtKB: Q9BXL73   

Export aliases for CARD11 gene to outside databases

Previous GC identifers: GC07M002590 GC07M002690 GC07M002719


(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 CARD11 Gene:
The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of
proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions
of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a
characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that
of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a
protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in
cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. (provided by RefSeq, Jul 2008)

GeneCards Summary for CARD11 Gene:
CARD11 (caspase recruitment domain family, member 11) is a protein-coding gene. Diseases associated with CARD11 include immunodeficiency 11, and persistent polyclonal b-cell lymphocytosis. GO annotations related to this gene include guanylate kinase activity and CARD domain binding. An important paralog of this gene is CARD14.

UniProtKB/Swiss-Prot: CAR11_HUMAN, Q9BXL7
Function: Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its
binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner.
Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10

Gene Wiki entry for CARD11 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_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CARD11 gene promoter:
         STAT1   AML1a   AP-1   ATF-2   STAT1beta   Lmo2   STAT1alpha   STAT2   c-Jun   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CARD11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CARD11


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

Entrez Gene cytogenetic band: 7p22   Ensembl cytogenetic band:  7p22.2   HGNC cytogenetic band: 7p22

CARD11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CARD11 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M002912:  view genomic region     (about GC identifiers)

Start:
2,945,709 bp from pter      End:
3,083,579 bp from pter
Size:
137,871 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 2,993,579-3,131,390     

(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: CAR11_HUMAN, Q9BXL7 (See protein sequence)
Recommended Name: Caspase recruitment domain-containing protein 11  
Size: 1154 amino acids; 133284 Da
Subunit: Found in a membrane raft complex, at least composed of BCL10, CARD11, DPP4 and IKBKB. CARD11 and BCL10
bind to each other by CARD-CARD interaction. Interacts (via PDZ domain) with DPP4 (via cytoplasmic tail)
Caution: Supposed to contain a SH3 domain which is not detected by PROSITE, Pfam or SMART
Sequence caution: Sequence=AAG53402.1; Type=Erroneous initiation; Sequence=AAI11720.2; Type=Erroneous initiation;
Sequence=AAQ96893.1; Type=Erroneous gene model prediction; Sequence=EAL23962.1; Type=Erroneous gene model
prediction;
1 PDB 3D structure from and Proteopedia for CARD11:
4LWD (3D)    
Secondary accessions: A4D1Z7 Q2NKN7 Q548H3

Explore the universe of human proteins at neXtProt for CARD11: NX_Q9BXL7

Explore proteomics data for CARD11 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-559, Ser-644 and Ser-652 by PRKCB and PRKCQ leads to a shift from an inactive to an active
    form that activates the NF-kappa-B signaling (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CARD11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115791.3  
    ENSEMBL proteins: 
     ENSP00000380150   ENSP00000347695   ENSP00000348779  
    Reactome Protein details: Q9BXL7

    CARD11 Human Recombinant Protein Products:

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    Novus Biologicals CARD11 Proteins
    Novus Biologicals CARD11 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CARD11

    CARD11 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CARD11
    R&D Systems Antibodies for CARD11 (CARD11/CARMA1)
    Cell Signaling Technology (CST) Antibodies for CARD11 
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    Abcam antibodies for CARD11
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    ThermoFisher Antibody for CARD11
    LSBio Antibodies in human, mouse, rat for CARD11

    CARD11 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CARD11
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CARD11
    Cloud-Clone Corp. CLIAs for CARD11


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR011029 DEATH-like_dom
     IPR027417 P-loop_NTPase
     IPR001478 PDZ
     IPR001315 CARD

    Graphical View of Domain Structure for InterPro Entry Q9BXL7

    ProtoNet protein and cluster: Q9BXL7

    2 Blocks protein domains:
    IPB001315 CARD interaction domain
    IPB001478 PDZ/DHR/GLGF domain


    UniProtKB/Swiss-Prot: CAR11_HUMAN, Q9BXL7
    Similarity: Contains 1 CARD domain
    Similarity: Contains 1 guanylate kinase-like domain
    Similarity: Contains 1 PDZ (DHR) domain


    CARD11 for domains           About GeneDecksing


    (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: CAR11_HUMAN, Q9BXL7
    Function: Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its
    binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner.
    Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004385guanylate kinase activity NAS11278692
    GO:0005515protein binding IPI16809782
    GO:0050700CARD domain binding IPI11278692
         
    CARD11 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CARD11:
     Decreased circadian period len 

         5 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Card11):
     hematopoietic system  homeostasis/metabolism  immune system  integument  respiratory system 

    CARD11 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CARD11: Card11tm1Xav Card11tm1Litt Card11tm1Pngr

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CARD11
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CARD11

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CARD11
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CARD11

    miRNA
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    miRTarBase miRNAs that target CARD11:
    hsa-mir-146b-5p (MIRT041621), hsa-mir-330-5p (MIRT038232), hsa-mir-155-5p (MIRT020564)

    Block miRNA regulation of human, mouse, rat CARD11 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate CARD11:
    hsa-miR-181c hsa-miR-4272 hsa-miR-181a hsa-miR-181d hsa-miR-661 hsa-miR-155 hsa-miR-4262 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidCARD11 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat CARD11

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    GenScript: all cDNA clones in your preferred vector: CARD11 (NM_032415)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CARD11

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CARD11


    (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
    CAR11_HUMAN, Q9BXL7: Cytoplasm. Membrane raft. Note=Colocalized with DPP4 in membrane rafts
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    nucleus3

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA12154360
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--
    GO:0042101colocalizes with T cell receptor complex IDA12154360

    CARD11 for ontologies           About GeneDecksing


    (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 CARD11 About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1B cell receptor signaling pathway (KEGG)
    B cell receptor signaling pathway0.42
    T cell receptor signaling pathway0.38
    BCR signaling pathway0.42
    TCR Signaling Pathway0.36
    2Downstream Signaling Events Of B Cell Receptor (BCR)
    Downstream Signaling Events Of B Cell Receptor (BCR)0.79
    Signaling by the B Cell Receptor (BCR)0.79
    3TCR signaling (REACTOME)
    Downstream TCR signaling0.73
    TCR signaling0.73
    4TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68
    TCR Signaling0.68
    5TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells0.64
    TCR signaling in naive CD4+ T cells0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CARD11
        PKC-Theta Pathway
    TCR Signaling
    CD28 Signaling in T-Helper Cell
    NF-KappaB Family Pathway

    2 Cell Signaling Technology (CST) Pathways for CARD11
        Lymphocyte Signaling
    NF-kappaB Signaling

    1 GeneGo (Thomson Reuters) Pathway for CARD11
        Immune response T cell receptor signaling pathway

    5 BioSystems Pathways for CARD11
        B Cell Receptor Signaling Pathway
    TCR Signaling Pathway
    TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells
    BCR signaling pathway

    3 Reactome Pathways for CARD11
        Downstream TCR signaling
    FCERI mediated NF-kB activation
    Activation of NF-kappaB in B cells


    3 Kegg Pathways  (Kegg details for CARD11):
        NF-kappa B signaling pathway
    T cell receptor signaling pathway
    B cell receptor signaling pathway


    CARD11 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CARD11: 
              NFKB Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CARD11

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

    Selected Interacting proteins for CARD11 (Q9BXL71, 2, 3 ENSP000003801504) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL10O959991, 2, 3EBI-7006141,EBI-958922 MINT-7228715 MINT-6177529 MINT-8143014 MINT-8143041 I2D: score=6 
    MALT1Q9UDY82, 3, ENSP000003192794MINT-6177529 MINT-6177640 MINT-8143041 I2D: score=1 STRING: ENSP00000319279
    COPS5Q929052, 3, ENSP000003505124MINT-7228563 MINT-7228732 I2D: score=3 STRING: ENSP00000350512
    PDPK1O155302, 3, ENSP000003442204MINT-8265511 I2D: score=4 STRING: ENSP00000344220
    TAB1Q157502, 3, ENSP000002161604MINT-8260031 I2D: score=2 STRING: ENSP00000216160
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    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001819positive regulation of cytokine production IMP12154360
    GO:0007165signal transduction ----
    GO:0030890positive regulation of B cell proliferation IEA--
    GO:0031295T cell costimulation IDA17287217
    GO:0038095Fc-epsilon receptor signaling pathway TAS--

    CARD11 for ontologies           About GeneDecksing



    (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 CARD11 (CAR11)

    2 Novoseek inferred chemical compound relationships for CARD11 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 68.4 9 16177990 (2), 15520247 (1), 15598810 (1), 17395537 (1) (see all 6)
    lipid 16 3 15598810 (1), 14754896 (1), 15802604 (1)



    CARD11 for compounds           About GeneDecksing



    (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 CARD11 gene: 
    NM_032415.5  

    Unigene Cluster for CARD11:

    Caspase recruitment domain family, member 11
    Hs.648101  [show with all ESTs]
    Unigene Representative Sequence: NM_032415
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396946(uc003smv.3) ENST00000480332 ENST00000355508 ENST00000356408

    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate CARD11:
    hsa-miR-181c hsa-miR-4272 hsa-miR-181a hsa-miR-181d hsa-miR-661 hsa-miR-155 hsa-miR-4262 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidCARD11 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat CARD11

    Additional mRNA sequence: 

    AF322641.1 AF352576.1 AK056847.1 AK074049.1 AK098010.1 BC111719.1 

    5 DOTS entries:

    DT.207933  DT.95197077  DT.95278889  DT.99929855  DT.100000082 

    Selected AceView cDNA sequences (see all 94):

    AW296670 BQ056689 BQ002323 BQ961067 AA179931 AW512325 AI469971 BF732581 
    BQ642414 BQ059470 BQ058537 CA454032 AF352576 BQ058355 BQ058504 AK074049 
    AA194010 BX373344 BQ065463 BG288547 AL833692 BU151083 AK097139 CB047850 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CARD11    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a ·
    SP1:              -                                                                                               -                       -                     
    SP2:                                                                                                                                      -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 22b ^ 23 ^ 24 ^ 25 ^ 26
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              


    ECgene alternative splicing isoforms for CARD11

    (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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    CARD11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCCGCCAG
    CARD11 Expression
    About this image


    CARD11 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
     
     Blood (Hematopoietic System)
             pre Conventional Dendritic Cells Peripheral Blood
     
     Lymph (Hematopoietic System)
    CARD11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CARD11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.648101

    UniProtKB/Swiss-Prot: CAR11_HUMAN, Q9BXL7
    Tissue specificity: Detected in adult peripheral blood leukocytes, thymus, spleen and liver. Also found in
    promyelocytic leukemia HL-60 cells, chronic myelogenous leukemia K-562 cells, Burkitt's lymphoma Raji cells and
    colorectal adenocarcinoma SW480 cells. Not detected in HeLaS3, MOLT-4, A-549 and G431 cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CARD11: 
              NFKB Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CARD11
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CARD11

    (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 chordates.

    Orthologs for CARD11 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Card111 , 5 caspase recruitment domain family, member 111, 5 87(n)1
    92.11(a)1
      5 (79.42 cM)5
    1087231  NM_175362.21  NP_780571.21 
     1408729995 
    chicken
    (Gallus gallus)
    Aves CARD111 caspase recruitment domain family, member 11 75.34(n)
    80.07(a)
      416476  NM_001006161.3  NP_001006161.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    88(a)
    74(a)
    1 ↔ many
    1 ↔ many
    AAWZ02038711(4845-9159)
    GL343340.1(451284-546516)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5570721 caspase recruitment domain-containing protein 11-like 67.45(n)
    67.48(a)
      557072  XM_680052.6  XP_685144.6 


    ENSEMBL Gene Tree for CARD11 (if available)
    TreeFam Gene Tree for CARD11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CARD11 gene
    CARD142  CARD102  CARD92  
    2 SIMAP similar genes for CARD11 using alignment to 3 protein entries:     CAR11_HUMAN (see all proteins):
    FLJ00120    CARD14

    CARD11 for paralogs           About GeneDecksing



    (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 CARD11 (see all 4191)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0697104
    Persistent polyclonal B-cell lymphocytosis (PPBL)4--see VAR_0697102 G S mis40--------
    VAR_0697114
    Persistent polyclonal B-cell lymphocytosis (PPBL)4--see VAR_0697112 E G mis40--------
    rs361785631,2
    C--2878735(+) TATCT-/TCTA  
            
    TCTAT
    1 -- int10--------
    rs1399470041,2
    C--2891964(+) GTTTT-/TTTTC 
            
    TTTTC
    1 -- int10--------
    rs38397161,2
    C,F--2903636(-) TGTGTGT/-CCTCA 1 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs1884163031,2
    --2918014(+) CGGGCC/GTGGCT 1 -- ds50010--------
    rs26792531,2
    C,F,A--2918094(-) CAGGTC/AAGGAG 1 -- ds50018Minor allele frequency- A:0.34NA CSA WA EA 368
    rs414151511,2
    C,F--2918130(+) GGGACA/GTTGAA 1 -- ds50011Minor allele frequency- G:0.10EA 120
    rs414612531,2
    C--2918131(+) GGACAC/TTGAAT 1 -- ds50010--------
    rs1379740811,2
    --2918142(+) GTGGGC/GCAGGG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for CARD11 (2945709 - 3083579 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CARD11 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2733867CNV Deletion23290073
    esv2233828CNV Deletion18987734
    esv2733865CNV Deletion23290073
    esv2733869CNV Deletion23290073
    esv2733868CNV Deletion23290073
    esv2660422CNV Deletion23128226
    esv2733866CNV Deletion23290073
    nsv366076CNV Insertion16902084
    nsv887316CNV Loss21882294
    nsv528122CNV Loss19592680

    Human Gene Mutation Database (HGMD): CARD11
    4 Site Specific Mutation Identification with PCR Assays for CARD11:
    Cosmic IdAA Change
    41657p.D223N
    41656p.T121M
    85863p.G119D
    41659p.L244P
    SeqTarget long-range PCR primers for resequencing CARD11
    DNA2.0 Custom Variant and Variant Library Synthesis for CARD11

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607210   
    OMIM disorders: 606445  615206  
    UniProtKB/Swiss-Prot: CAR11_HUMAN, Q9BXL7
  • Persistent polyclonal B-cell lymphocytosis (PPBL) [MIM:606445]: An autosomal dominant condition
    characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral
    lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody
    responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Immunodeficiency 11 (IMD11) [MIM:615206]: An autosomal recessive primary immunodeficiency characterized
    by normal numbers of T and B lymphocytes, but defective intracellular signaling. There is a block in B-cell
    differentiation with increased numbers of transitional B cells and hypogammaglobulinemia, as well as decreased
    numbers of regulatory T cells and defects in T-cell function. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for CARD11 (see all 22):    
    About MalaCards
    immunodeficiency 11    persistent polyclonal b-cell lymphocytosis    malt lymphoma    common variable immunodeficiency
    diffuse large b-cell lymphoma    allergic asthma    b-cell lymphomas    burkitt's lymphoma
    acute leukemia    atopic dermatitis    asthma    sepsis
    dermatitis    multiple myeloma    myeloma    hodgkin's lymphoma
    bipolar disorder    inflammatory bowel disease    hepatitis b    hepatitis

    1 disease from the University of Copenhagen DISEASES database for CARD11:
    Lymphoma

    CARD11 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for CARD11 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    malt lymphoma 61.8 9 16177990 (3)
    lymphoma 40.2 2 16177990 (2)
    lymphoma b-cell 38 6 16177990 (3), 15598810 (1)

    Genetic Association Database (GAD): CARD11
    Human Genome Epidemiology (HuGE) Navigator: CARD11 (4 documents)

    Export disorders for CARD11 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 CARD11 gene, integrated from 10 sources (see all 86):
    (articles sorted by number of sources associating them with CARD11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappaB activation. (PubMed id 11356195)1, 2, 3, 9 Gaide O.... Tschopp J. (FEBS Lett. 2001)
    2. CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with Bcl10 and activate NF-kappaB. (PubMed id 11278692)1, 2, 3 Bertin J.... Alnemri E.S. (J. Biol. Chem. 2001)
    3. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. (PubMed id 23374270)1, 2 Stepensky P....Warnatz K. (J. Allergy Clin. Immunol. 2013)
    4. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. (PubMed id 23129749)1, 2 Snow A.L....Lenardo M.J. (J. Exp. Med. 2012)
    5. Caveolin-1 triggers T-cell activation via CD26 in association with CARMA1. (PubMed id 17287217)1, 2 Ohnuma K.... Morimoto C. (J. Biol. Chem. 2007)
    6. Mutations of genes involved in the innate immune system as predictors of sepsis in very low birth weight infants. (PubMed id 14739370)1, 4 Ahrens P....GAPpel W. (Pediatr. Res. 2004)
    7. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    8. The protein kinase C-responsive inhibitory domain of CARD11 functions in NF-kappaB activation to regulate the association of multiple signaling cofactors that differentially depend on Bcl10 and MALT1 for association. (PubMed id 18625728)1, 9 McCully R.R. and Pomerantz J.L. (Mol. Cell. Biol. 2008)
    9. PKC beta regulates BCR-mediated IKK activation by facilitating the interaction between TAK1 and CARMA1. (PubMed id 16301747)1, 9 Shinohara H....Kurosaki T. (J. Exp. Med. 2005)
    10. CARMA1 is required for Akt-mediated NF-kappaB activation in T cells. (PubMed id 16508008)1, 9 Narayan P....Kane L.P. (Mol. Cell. Biol. 2006)

    (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: 84433 HGNC: 16393 AceView: CARD11 Ensembl:ENSG00000198286 euGenes: HUgn84433
    ECgene: CARD11 Kegg: 84433 H-InvDB: CARD11

    (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 CARD11 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CARD11 gene:
    Search GeneIP for patents involving CARD11

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



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