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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 persistent polyclonal b-cell lymphocytosis, and malt lymphoma, and among its related super-pathways are BCR signaling pathway and Immune System. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CARD11

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Cytoplasm. Membrane raft. Note=Colocalized with DPP4 in membrane rafts
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;
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:

  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXL7

  • CARD11 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CARD11 Protein Expression
    REFSEQ proteins: NP_115791.3  
    ENSEMBL proteins: 
     ENSP00000380150   ENSP00000347695   ENSP00000348779  
    Reactome Protein details: Q9BXL7
    Human Recombinant Protein Products for CARD11: 
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    OriGene Protein Over-expression Lysate for CARD11
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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 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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



    CARD11 Antibody Products: 
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    ThermoFisher Antibody for CARD11
    LSBio Antibodies in human, mouse, rat for CARD11 

    Assay Products for CARD11: 
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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)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 

         6 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Card11):
     cellular  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 - Custom generated mouse model solutions for CARD11 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    SwitchGear 3'UTR luciferase reporter plasmidCARD11 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CARD11


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

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

    SuperPathContained pathways About
    1B cell receptor signaling pathway
    B cell receptor signaling pathway0.42
    T cell receptor signaling pathway0.38
    BCR signaling pathway0.42
    TCR Signaling Pathway0.35
    2Immune System
    Immune System0.56
    Innate Immune System0.50
    Adaptive Immune System0.56
    3Signaling by the B Cell Receptor (BCR)
    Signaling by the B Cell Receptor (BCR)0.81
    Downstream Signaling Events Of B Cell Receptor (BCR)0.81
    4TCR signaling
    TCR signaling0.75
    Downstream TCR signaling0.75
    5PKC-Theta Pathway
    TCR Signaling0.68
    PKC-Theta Pathway0.68

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CARD11
        Immune response T cell receptor signaling pathway

    4 Downloadable PowerPoint Slides of QIAGEN 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
        TCR Signaling Pathway
    B Cell Receptor Signaling Pathway
    TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells
    BCR signaling pathway

    5/10        Reactome Pathways for CARD11 (see all 10)
        FCERI mediated NF-kB activation
    Adaptive Immune System
    Activation of NF-kappaB in B Cells
    Signaling by the B Cell Receptor (BCR)
    Downstream TCR signaling


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CARD11

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

    5/32 Interacting proteins for CARD11 (Q9BXL72, 3 ENSP000003801504) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL10O959992, 3MINT-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
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CARD11 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about CARD11 / CAR11

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    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 

    24/94 AceView cDNA sequences (see all 94):

    AW296670 BQ056689 BQ002323 BQ961067 AA179931 AW512325 AI469971 BF732581 
    BQ642414 BQ059470 BQ058537 CA454032 AF352576 BQ058355 BQ058504 AK074049 
    AA194010 BG758149 BX373344 BQ065463 BG288547 AL833692 BU151083 AK097139 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CARD11 expression in normal human tissues (normalized intensities)      CARD11 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Lymph (Hematopoietic System)
             LYMPH NODE   
     
     Primitive Streak (Early Embryonic Tissues)
             Mesendoderm-like cells ( Generation of mesendoderm and definitive endoderm cells...
     
     Blood (Hematopoietic System)
             pre Conventional Dendritic Cells Peripheral Blood

    See CARD11 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CARD11

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including CARD11: 
              NFKB Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CARD11 gene from 4/11 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_001006161.2  NP_001006161.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    88(a)
    73(a)
    1 ↔ many
    1 ↔ many
    AAWZ02038711(4845-9159)
    GL343340.1(451284-546516)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5570721 caspase recruitment domain-containing protein 11-like 64.36(n)
    62.34(a)
      557072  XM_680052.5  XP_685144.5 


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4189 SNPs in CARD11 are shown (see all 4189)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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--------
    rs1857753531,2
    --2918267(+) CTTCTA/CAGGGT 1 -- ds50010--------
    rs1895035821,2
    --2918343(+) TATTAC/TCCTAA 1 -- ds50010--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 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 SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 607210    OMIM disorders: --

    16 diseases for CARD11:    About MalaCards
    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
    asthma    multiple myeloma    myeloma    hodgkin's lymphoma
    hepatitis b    adenocarcinoma    hepatitis    leukemia

    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)
    About This Section

    PubMed articles for CARD11 gene, integrated from 9 sources (see all 84):
    (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. (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. (2001)
    3. Caveolin-1 triggers T-cell activation via CD26 in association with CARMA1. (PubMed id 17287217)1, 2 Ohnuma K....Morimoto C. (2007)
    4. 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....Gopel W. (2004)
    5. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    6. 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. (2008)
    7. PKC beta regulates BCR-mediated IKK activation by facilitating the interaction between TAK1 and CARMA1. (PubMed id 16301747)1, 9 Shinohara H....Kurosaki T. (2005)
    8. CARMA1 is required for Akt-mediated NF-kappaB activation in T cells. (PubMed id 16508008)1, 9 Narayan P....Kane L.P. (2006)
    9. PDK1 nucleates T cell receptor-induced signaling complex for NF-kappaB activation. (PubMed id 15802604)1, 9 Lee K.Y....Ghosh S. (2005)
    10. Deficiency of caspase recruitment domain family, membe r 11 (CARD11), causes profound combined immunodeficiency in human subjects. (PubMed id 23374270)1 Stepensky P....Warnatz K. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 84433 HGNC: 16393 AceView: CARD11 Ensembl:ENSG00000198286 euGenes: HUgn84433
    ECgene: CARD11 Kegg: 84433 H-InvDB: CARD11

    (According to HUGE)
    About This Section
      --

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