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CD40LG Gene

protein-coding   GIFtS: 69
GCID: GC0XP135730

CD40 Ligand

(Previous names: tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM...)
(Previous symbols: HIGM1, IMD3, TNFSF5)
Microbiology & Infectious Diseases Congress
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(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
CD40 Ligand1 2     T-Cell Antigen Gp392 3
TNFSF51 2 3 5     IGM2 5
TNF-Related Activation Protein1 2 3     Hyper-IgM Syndrome1
HIGM11 2 5     Tumor Necrosis Factor (Ligand) Superfamily, Member 5 (Hyper-IgM Syndrome)1
IMD31 2     CD1542
CD40 Antigen Ligand1 2     T-BAM2
T-B Cell-Activating Molecule1 2     gp392
Tumor Necrosis Factor (Ligand) Superfamily Member 51 2     hCD40L2
CD40-L2 3     CD154 Antigen3
CD40L2 3     Tumor Necrosis Factor Ligand Superfamily Member 53
TRAP2 3     

External Ids:    HGNC: 119351   Entrez Gene: 9592   Ensembl: ENSG000001022457   OMIM: 3003865   UniProtKB: P299653   

Export aliases for CD40LG gene to outside databases

Previous GC identifers: GC0XP135456 GC0XP135558 GC0XP125001


(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 CD40LG Gene:
The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging
CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch
and is associated with hyper-IgM syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for CD40LG Gene:
CD40LG (CD40 ligand) is a protein-coding gene. Diseases associated with CD40LG include lyme disease, and syphilis. GO annotations related to this gene include CD40 receptor binding and cytokine activity.

UniProtKB/Swiss-Prot: CD40L_HUMAN, P29965
Function: Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of
IL-4. Involved in immunoglobulin class switching
Function: Release of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and
an matrix metalloproteinases (MMP) inhibitor-sensitive pathway

Gene Wiki entry for CD40LG (CD154) 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_000023.11  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CD40LG gene promoter:
         TBP   STAT1   AP-1   ATF-2   STAT1beta   STAT1alpha   TFIID   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD40LG promoter sequence
   Search Chromatin IP Primers for CD40LG

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CD40LG


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

Entrez Gene cytogenetic band: Xq26   Ensembl cytogenetic band:  Xq26.3   HGNC cytogenetic band: Xq26

CD40LG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD40LG gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP135730:  view genomic region     (about GC identifiers)

Start:
135,730,336 bp from pter      End:
135,742,549 bp from pter
Size:
12,214 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, 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: CD40L_HUMAN, P29965 (See protein sequence)
Recommended Name: CD40 ligand  
Size: 261 amino acids; 29274 Da
Subunit: Homotrimer
4 PDB 3D structures from and Proteopedia for CD40LG:
1ALY (3D)        1I9R (3D)        3LKJ (3D)        3QD6 (3D)    

Explore the universe of human proteins at neXtProt for CD40LG: NX_P29965

Explore proteomics data for CD40LG at MOPED

Post-translational modifications: 

  • The soluble form derives from the membrane form by proteolytic processing1
  • N-linked glycan is a mixture of high mannose and complex type. Glycan structure does not influence binding
    affinity to CD401
  • Not O-glycosylated1
  • Glycosylation2 at Asn240
  • Modification sites at PhosphoSitePlus

  • See CD40LG Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000065.1  
    ENSEMBL proteins: 
     ENSP00000359663   ENSP00000359662  
    Reactome Protein details: P29965

    CD40LG Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

    CD40LG Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    CD40LG 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:
    CD: CD molecules
    TNFSF: Tumor necrosis factor (ligand) superfamily
    ENDOLIG: Endogenous ligands

    4 InterPro protein domains:
     IPR021184 TNF_CS
     IPR006052 TNF_dom
     IPR003263 TNF_ligand_5
     IPR008983 Tumour_necrosis_fac-like_dom

    Graphical View of Domain Structure for InterPro Entry P29965

    ProtoNet protein and cluster: P29965

    2 Blocks protein domains:
    IPB003263 CD40 ligand/CD154 antigen signature
    IPB006052 Tumor Necrosis Factor


    UniProtKB/Swiss-Prot: CD40L_HUMAN, P29965
    Similarity: Belongs to the tumor necrosis factor family


    CD40LG 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: CD40L_HUMAN, P29965
    Function: Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of
    IL-4. Involved in immunoglobulin class switching
    Function: Release of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and
    an matrix metalloproteinases (MMP) inhibitor-sensitive pathway

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0005164tumor necrosis factor receptor binding IEA--
    GO:0005174CD40 receptor binding IPI9468137
    GO:0005515protein binding ----
         
    CD40LG for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cd40lg):
     cardiovascular system  cellular  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  nervous system  other 
     renal/urinary system  reproductive system  skeleton 

    CD40LG for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CD40LG: Cd40lgtm1Flv Cd40lgtm1Imx

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CD40LG
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CD40LG

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD40LG
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD40LG

    miRNA
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    miRTarBase miRNAs that target CD40LG:
    hsa-mir-146a-5p (MIRT005463)

    Block miRNA regulation of human, mouse, rat CD40LG using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CD40LG (see all 22):
    hsa-miR-194* hsa-miR-148b* hsa-miR-34b* hsa-miR-875-3p hsa-miR-4288 hsa-miR-632 hsa-miR-374a hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidCD40LG 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CD40LG

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    Sino Biological Human cDNA Clone for CD40LG
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD40LG


    (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
    CD40L_HUMAN, P29965: Cell membrane; Single-pass type II membrane protein
    CD40L_HUMAN, P29965: CD40 ligand, soluble form: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    nucleus2
    cytoskeleton1
    endosome1
    golgi apparatus1
    lysosome1
    mitochondrion1
    vacuole1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS7678552
    GO:0009897external side of plasma membrane IEA--
    GO:0016020membrane ----

    CD40LG 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 CD40LG About   (see all 19)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Allograft rejection
    Allograft rejection0.86
    Asthma0.46
    Allograft Rejection0.86
    Intestinal immune network for IgA production0.41
    Autoimmune thyroid disease0.61
    Viral myocarditis0.40
    2TNF Signaling
    TNF Signaling0.50
    TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions0.49
    Death Receptor Signaling0.50
    NF-kB (NFkB) Pathway0.46
    3Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes0.38
    Calcium signaling in the CD4+ TCR pathway0.38
    4Apoptosis and survival Anti apoptotic TNFs NF kB Bcl 2 pathway
    Apoptosis and survival Anti apoptotic TNFs NF kB Bcl 2 pathway0.46
    5PEDF Induced Signaling
    Cytokine-cytokine receptor interaction0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for CD40LG
        TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions
    A-beta Uptake & Degradation

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CD40LG (see all 23)
        THC Differentiation Pathway
    TRAF Pathway
    Endothelin-1 Signaling Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C

    1 GeneGo (Thomson Reuters) Pathway for CD40LG
        Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

    Selected BioSystems Pathways for CD40LG (see all 7)
        Allograft Rejection
    Id Signaling Pathway
    IL4-mediated signaling events
    Calcium signaling in the CD4+ TCR pathway
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes

    3 Sino Biological Pathways for CD40LG
        TNF Signaling
    Death Receptor Signaling
    NF-kB (NFkB) Pathway

    1 Reactome Pathway for CD40LG
        Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell


    Selected Kegg Pathways  (Kegg details for CD40LG) (see all 13):
        Cytokine-cytokine receptor interaction
    NF-kappa B signaling pathway
    Cell adhesion molecules (CAMs)
    T cell receptor signaling pathway
    Intestinal immune network for IgA production


    CD40LG for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CD40LG (see all 22): 
              Cell Surface Markers in human mouse rat
              Wound Healing in human mouse rat
              Lymphoma in human mouse rat
              Inflammasomes in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CD40LG

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

    Selected Interacting proteins for CD40LG (P299653 ENSP000003596634) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF128Q8TEB73, ENSP000002554994I2D: score=2 STRING: ENSP00000255499
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    CD40P259423, ENSP000003613594I2D: score=1 STRING: ENSP00000361359
    CD5LO438663, ENSP000003571564I2D: score=1 STRING: ENSP00000357156
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006954inflammatory response IDA9468137
    GO:0006955immune response ----
    GO:0007159leukocyte cell-cell adhesion NAS9468137
    GO:0030168platelet activation IDA9468137
    GO:0030183B cell differentiation IEA--

    CD40LG 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 CD40LG (CD40L)

    1 HMDB Compound for CD40LG    About this table
    CompoundSynonyms CAS #PubMed Ids
    AtorvastatinAtorvastatin acid (see all 4)134523-00-5--

    Selected Novoseek inferred chemical compound relationships for CD40LG gene (see all 127)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiolipin 65.7 48 7699683 (2), 8862250 (2), 12209031 (2), 2117391 (1) (see all 35)
    stresson 55.8 1 11677993 (1)
    fibrinogen 54.7 108 15811120 (3), 12379582 (3), 11352081 (2), 18789071 (2) (see all 86)
    ivig 54.6 57 2209705 (4), 1932300 (3), 8633217 (3), 11188771 (2) (see all 29)
    hu5c8 54.6 1 11740405 (1)
    blys 53.5 10 19421221 (3), 15188365 (1), 17567982 (1), 19258594 (1) (see all 7)
    galalpha(1,3)gal 53.1 2 15114098 (1), 9799716 (1)
    sulfolipid i 49.9 4 12354881 (2), 14715547 (1)
    sandoglobulin 48.6 2 1932300 (1)
    rituximab 48.5 31 12640069 (5), 19084309 (3), 18761748 (2), 15493038 (2) (see all 12)



    CD40LG 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 CD40LG gene: 
    NM_000074.2  

    Unigene Cluster for CD40LG:

    CD40 ligand
    Hs.592244  [show with all ESTs]
    Unigene Representative Sequence: BC071754
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370629(uc010nse.1 uc004faa.3 uc010nsd.3) ENST00000370628

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Selected qRT-PCR Assays for microRNAs that regulate CD40LG (see all 22):
    hsa-miR-194* hsa-miR-148b* hsa-miR-34b* hsa-miR-875-3p hsa-miR-4288 hsa-miR-632 hsa-miR-374a hsa-miR-340
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      QuantiFast Probe-based Assays in human, mouse, rat CD40LG

    Additional mRNA sequence: 

    AF529195.1 AK292637.1 AY197739.1 BC071754.1 BC074950.2 FN298241.1 L07414.1 X67878.1 
    X68550.1 X96710.1 Z15017.1 

    1 DOTS entry:

    DT.308261 

    15 AceView cDNA sequences:

    X67878 BC074950 Z15017 BC071754 CD642064 CD520208 BV207218 CD638712 
    CD640741 X68550 X96710 CD521613 L07414 NM_000074 CA432817 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CD40LG    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
    SP1:                                          
    SP2:                          -               


    ECgene alternative splicing isoforms for CD40LG

    (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)
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    CD40LG expression in normal human tissues (normalized intensities)      CD40LG embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACCAAAAC
    CD40LG Expression
    About this image


    CD40LG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             T Helper Cells Peripheral Blood
    CD40LG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD40LG Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592244

    UniProtKB/Swiss-Prot: CD40L_HUMAN, P29965
    Tissue specificity: Specifically expressed on activated CD4+ T-lymphocytes

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CD40LG (see all 22): 
              Cell Surface Markers in human mouse rat
              Wound Healing in human mouse rat
              Lymphoma in human mouse rat
              Inflammasomes in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CD40LG
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD40LG

    (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 CD40LG gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd40lg1 , 5 CD40 ligand1, 5 83.33(n)1
    77.69(a)1
      X (31.21 cM)5
    219471  NM_011616.21  NP_035746.21 
     572121435 
    chicken
    (Gallus gallus)
    Aves CD40LG1 CD40 ligand 57.97(n)
    43.08(a)
      395485  NM_204733.1  NP_990064.1 
    lizard
    (Anolis carolinensis)
    Reptilia CD40LG6
    CD40 ligand
    33(a)
    1 ↔ 1
    GL343562.1(220906-237791)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cd40lg1 CD40 ligand 54.48(n)
    40.34(a)
      100489038  XM_002932624.1  XP_002932670.1 


    ENSEMBL Gene Tree for CD40LG (if available)
    TreeFam Gene Tree for CD40LG (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CD40LG gene
    1 SIMAP similar gene for CD40LG using alignment to 3 protein entries:     CD40L_HUMAN (see all proteins):
    TNFSF5

    CD40LG 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 CD40LG (see all 254)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0179364
    X-linked immunodeficiency with hyper-IgM 1 (HIGM1)4--see VAR_0179362 A D mis40--------
    VAR_0075204
    X-linked immunodeficiency with hyper-IgM 1 (HIGM1)4--see VAR_0075202 G E mis40--------
    VAR_0179234
    X-linked immunodeficiency with hyper-IgM 1 (HIGM1)4--see VAR_0179232 Y C mis40--------
    VAR_0179264
    X-linked immunodeficiency with hyper-IgM 1 (HIGM1)4--see VAR_0179262 H R mis40--------
    VAR_0179224
    X-linked immunodeficiency with hyper-IgM 1 (HIGM1)4--see VAR_0179222 T N mis40--------
    VAR_0179374
    X-linked immunodeficiency with hyper-IgM 1 (HIGM1)4--see VAR_0179372 H Y mis40--------
    VAR_0075154
    X-linked immunodeficiency with hyper-IgM 1 (HIGM1)4--see VAR_0075152 V A mis40--------
    VAR_0179314
    X-linked immunodeficiency with hyper-IgM 1 (HIGM1)4--see VAR_0179312 V D mis40--------
    VAR_0179404
    X-linked immunodeficiency with hyper-IgM 1 (HIGM1)4--see VAR_0179402 G D mis40--------
    VAR_0179324
    X-linked immunodeficiency with hyper-IgM 1 (HIGM1)4--see VAR_0179322 K T mis40--------

    HapMap Linkage Disequilibrium report for CD40LG (135730336 - 135742549 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CD40LG: --
    Human Gene Mutation Database (HGMD): CD40LG
    Locus Specific Mutation Databases (LSDB): CD40LG

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CD40LG
    DNA2.0 Custom Variant and Variant Library Synthesis for CD40LG

    (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: 300386   
    OMIM disorders: 308230  
    UniProtKB/Swiss-Prot: CD40L_HUMAN, P29965
  • X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230]: Immunoglobulin isotype switch defect
    characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes. Affected males
    present at an early age (usually within the first year of life) recurrent bacterial and opportunistic infections,
    including Pneumocystis carinii pneumonia and intractable diarrhea due to cryptosporidium infection. Despite
    substitution treatment with intravenous immunoglobulin, the overall prognosis is rather poor, with a death rate
    of about 10% before adolescence. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for CD40LG (see all 351):    About MalaCards
    lyme disease    syphilis    rubella    hepatitis e
    toxoplasmosis    cryoglobulinemia    q fever    scrub typhus
    congenital toxoplasmosis    la crosse encephalitis    idiopathic posterior uveitis    hemorrhagic fever
    immunoglobulin g deficiency    epstein-barr virus hepatitis    st. louis encephalitis    cryofibrinogenemia
    x-linked hyper igm syndrome    immunodeficiency with hyper igm type 1    posterior uveitis    cd40 ligand deficiency

    10 diseases from the University of Copenhagen DISEASES database for CD40LG:
    Primary immunodeficiency disease     Atherosclerosis     Lupus erythematosus     Blood protein disease
    Connective tissue disease     Heart disease     Lymphoma     Leukemia
    Diabetes mellitus     Rheumatoid arthritis

    CD40LG for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CD40LG gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyper-igm syndrome 86 72 7907793 (4), 7679206 (4), 10559240 (2), 11038461 (2) (see all 37)
    waldenstrom macroglobulinemia 73.4 46 9762027 (2), 8678056 (2), 19362963 (2), 1656848 (1) (see all 36)
    m syndrome 70.8 3 7679801 (1), 17244160 (1), 8914765 (1)
    lupus erythematosus systemic 70.4 59 19232124 (2), 16393964 (2), 2383077 (2), 9462168 (2) (see all 45)
    rheumatoid arthritis 65.6 72 16489709 (3), 7777825 (2), 18521455 (2), 1718404 (2) (see all 60)
    monoclonal gammopathy 65.2 83 9845848 (4), 11160960 (4), 19720975 (3), 18708629 (3) (see all 51)
    antiphospholipid syndrome 64.4 16 8607123 (2), 8608682 (2), 1549196 (1), 9773961 (1) (see all 11)
    common variable immunodeficiency 64 12 11096255 (1), 7524537 (1), 16641210 (1), 2165880 (1) (see all 11)
    iga deficiency 63.9 18 1496540 (3), 8385798 (1), 15940551 (1), 2146585 (1) (see all 16)
    autoimmune diseases 62.7 50 11905841 (3), 15571927 (2), 19151119 (2), 8514202 (2) (see all 35)

    GeneTests: CD40LG
    GeneReviews: CD40LG
    Genetic Association Database (GAD): CD40LG
    Human Genome Epidemiology (HuGE) Navigator: CD40LG (26 documents)

    Export disorders for CD40LG 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 CD40LG gene, integrated from 10 sources (see all 2529):
    (articles sorted by number of sources associating them with CD40LG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. (PubMed id 7678782)1, 2, 3, 9 Aruffo A.... Ochs H.D. (Cell 1993)
    2. The role of polar interactions in the molecular recognition of CD40L with its receptor CD40. (PubMed id 9605317)1, 2, 9 Singh J.... Thomas D. (Protein Sci. 1998)
    3. Allelic variants of CD40 and CD40L genes interact to promote antibiotic-induced cutaneous allergic reactions. (PubMed id 19735272)1, 4, 9 Kim S.H....Park H.W. (Clin. Exp. Allergy 2009)
    4. Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus. (PubMed id 19421221)1, 4, 9 Malheiros D. and Petzl-Erler M.L. (Genes Immun. 2009)
    5. Immune response gene polymorphisms in renal transplant recipients. (PubMed id 16378074)1, 4, 9 Dmitrienko S....Keown P.A. (Transplantation 2005)
    6. The dinucleotide repeat polymorphism in the 3'UTR of the CD154 gene has a functional role on protein expression and is associated with systemic lupus erythematosus. (PubMed id 14962968)1, 4, 9 Citores M.J....PAcrez-Aciego P. (Ann. Rheum. Dis. 2004)
    7. Signaling through CD40 rescues IgE but not IgG or IgA secretion in X- linked immunodeficiency with hyper-IgM. (PubMed id 7532185)1, 2, 9 Saiki O.... Matsuda I. (J. Clin. Invest. 1995)
    8. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. (PubMed id 7679206)1, 2, 9 Korthaeuer U....Kroczek R.A. (Nature 1993)
    9. Human CD40-ligand: molecular cloning, cellular distribution and regulation of expression by factors controlling IgE production. (PubMed id 7678552)1, 2, 9 Gauchat J.-F.... Bonnefoy J.-Y. (FEBS Lett. 1993)
    10. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. (PubMed id 7679801)1, 2, 9 Allen R.C.... Spriggs M.K. (Science 1993)

    (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: 959 HGNC: 11935 AceView: TNFSF5 Ensembl:ENSG00000102245 euGenes: HUgn959
    ECgene: CD40LG Kegg: 959 H-InvDB: CD40LG

    (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 CD40LG Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CD40LG Genetics and Cytogenetics in Oncology and Haematology
    CD40Lbasehttp://bioinf.uta.fi/CD40Lbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CD40LG[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CD40LG gene:
    Search GeneIP for patents involving CD40LG

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



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