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

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)
 Explore 362 diseases affiliated with
CD40LG via our new
 Human Malady Compendium 
Biological research products
for CD40LG
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
CD40 Ligand1 2     T-Cell Antigen Gp392 3
TNFSF51 2 3 5     TNF-Related Activation Protein2 3
CD40L1 2 3     IGM2 5
TRAP1 2 3     Tumor Necrosis Factor (Ligand) Superfamily, Member 5 (Hyper-IgM Syndrome)1
HIGM11 2 5     T-BAM2
CD1541 2     CD40 Antigen Ligand2
IMD31 2     T-B Cell-Activating Molecule2
Gp391     Tumor Necrosis Factor (Ligand) Superfamily Member 52
HCD40L1     CD154 Antigen3
CD40-L2 3     Tumor Necrosis Factor Ligand Superfamily Member 53

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

Entrez Gene summary for CD40LG:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011786.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CD40LG

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CD40L_HUMAN, P29965 (See protein sequence)
Recommended Name: CD40 ligand  
Size: 261 amino acids; 29274 Da
Subunit: Homotrimer
Subcellular location: Cell membrane; Single-pass type II membrane protein
Subcellular location: CD40 ligand, soluble form: Secreted
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P29965

  • CD40LG Protein expression data from MOPED and PaxDb:    About this image 
    CD40LG Protein Expression
    REFSEQ proteins: NP_000065.1  
    ENSEMBL proteins: 
     ENSP00000359663   ENSP00000359662  
    Reactome Protein details: P29965
    Human Recombinant Protein Products for CD40LG: 
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    Novus Biologicals CD40LG Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for CD40LG
    Uscn Proteins for CD40LG

    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:0005615extracellular space IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS7678552
    GO:0009897external side of plasma membrane IEA--
    GO:0016020membrane ----

    CD40LG for ontologies           About GeneDecksing



    CD40LG Antibody Products: 
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    Uscn ELISAs and CLIAs for CD40LG


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

    CD40LG for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR021184 TNF_CS
     IPR006052 TNF
     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 families:
    IPB003263 CD40 ligand/CD154 antigen signature
    IPB006052 Tumor Necrosis Factor


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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0005164tumor necrosis factor receptor binding IEA--
    GO:0005174CD40 receptor binding IPI9468137
         
    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:
         Mouse knock-outs for CD40LG: Cd40lgtm1Flv Cd40lgtm1Imx
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CD40LG 

    miRNA
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    8/22 QIAGEN miScript miRNA 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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    Clone
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    Sirion Biotech Customized inducible overexpressing cell line services for CD40LG

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD40LG


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/18 super-pathways (see all 18About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Allograft rejection
    Allograft rejection1.00
    Intestinal immune network for IgA production0.38
    Autoimmune thyroid disease0.60
    Viral myocarditis0.33
    Asthma0.44
    2Immune System
    Immune System1.00
    Adaptive Immune System0.59
    3Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
    Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway1.00
    Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway1.00
    4Calcium signaling in the CD4+ TCR pathway
    Calcium signaling in the CD4+ TCR pathway1.00
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes0.38
    5Id Signaling Pathway
    Id Signaling Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for CD40LG
        Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

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


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

    5/6 BioSystems Pathways for CD40LG (see all 6
        Id Signaling Pathway
    Inflammatory Response Pathway
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    Calcium signaling in the CD4+ TCR pathway
    IL4-mediated signaling events

    3        Reactome Pathways for CD40LG
        Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    Adaptive Immune System
    Immune System


    5/12         Kegg Pathways  (Kegg details for CD40LG) (see all 12):
        Cytokine-cytokine receptor interaction
    Cell adhesion molecules (CAMs)
    T cell receptor signaling pathway
    Intestinal immune network for IgA production
    Malaria


    CD40LG for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CD40LG

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

    5/38 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): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002839positive regulation of immune response to tumor cell ----
    GO:0006954inflammatory response IDA9468137
    GO:0006955immune response ----
    GO:0007159leukocyte cell-cell adhesion NAS9468137
    GO:0030168platelet activation IDA9468137

    CD40LG for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CD40LG for compounds           About GeneDecksing

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

    Browse Tocris compounds for CD40LG

    1 HMDB Compound for CD40LG    About this table
    CompoundSynonyms CAS #PubMed Ids
    AtorvastatinAtorvastatin acid (see all 4)134523-00-5--
    10/127 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about CD40LG / CD40L 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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


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    8/22 QIAGEN miScript miRNA 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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    Additional cDNA 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 BV207218 CD521613 BC071754 CD638712 L07414 CD642064 
    CD520208 Z15017 CD640741 NM_000074 X68550 CA432817 X96710 

    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™, 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

    CD40LG expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAACCAAAAC
    CD40LG Expression
    About this image
    See CD40LG Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CD40LG

    SOURCE GeneReport for Unigene cluster: Hs.592244

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

        SABiosciences Expression via Pathway-Focused 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

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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CD40LG gene from 3/9 species (see all 9)    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 57.44(n)
    42.69(a)
      395485  NM_204733.1  NP_990064.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    54(a)
    1 ↔ 1
    GL343562.1(235232-235399)


    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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/174 NCBI SNPs in CD40LG are shown (see all 174    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048947741,2
    Cpathogenic135730514(+) CCAGAG/TGATTG 2 R M mis10--------
    rs1048947781,2
    Cpathogenic135738536(+) AATTGA/CGGCAC 2 E A mis10--------
    rs1048947771,2
    Cpathogenic135741206(+) TACAGG/TGGGCT 2 G W mis10--------
    rs1048947751,2
    Cpathogenic135741207(+) ACAGTA/GGGCTG 2 * W stg10--------
    rs1048947691,2
    Cpathogenic135741252(+) AACCCC/TGGAAA 2 P L mis10--------
    rs1048947681,2
    Cpathogenic135741468(+) GGGAGG/TAGTAT 2 G V mis10--------
    rs1048947711,2
    Cpathogenic135741491(+) CAGGTC/GCTTCG 2 P A mis10--------
    rs1485941231,2
    C,Funknown135741443(+) CTTGCG/AGGCAA 2 /R /G mis11Minor allele frequency- A:0.01NA 4552
    rs1898116961,2
    --135728446(+) CCCTTA/GAGAAT 1 -- us2k10--------
    rs1504970801,2
    --135728461(+) TGATAC/TAGAAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CD40LG (135730336 - 135742549 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CD40LG: --
    Human Gene Mutation Database (HGMD): CD40LG

    Locus Specific Mutation Databases (LSDB): CD40LG

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD40LG
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CD40LG for disorders           About GeneDecksing

    OMIM gene information: 300386   
    OMIM disorders: 308230  
    UniProtKB/Swiss-Prot: CD40L_HUMAN, P29965
  • Defects in CD40LG are the cause of X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]; also
  • known as X-linked hyper IgM syndrome (XHIM). HIGM1 is an 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

    20/362 diseases for CD40LG (see all 362):    About MalaCards
    african tick-bite fever    pure red-cell aplasia    guillain-barre syndrome    st. louis encephalitis
    erythema infectiosum    monoclonal gammopathy of undetermined significance    heparin-induced thrombocytopenia    marginal zone b-cell lymphoma
    epstein-barr virus hepatitis    scrub typhus    la crosse encephalitis    dandy-walker syndrome
    immune-complex glomerulonephritis    chronic recurrent multifocal osteomyelitis    immunodeficiency with hyper igm type 1    immunodeficiency with hyper igm
    isolated growth hormone deficiency    common variable immunodeficiency    acquired von willebrand syndrome    dengue hemorrhagic fever

    9 diseases from the University of Copenhagen DISEASES database for CD40LG:
    Primary immunodeficiency disease     Atherosclerosis     Systemic lupus erythematosus     Blood protein disease
    Lymphoma     Coronary heart disease     Leukemia     Myocardial infarction
    Diabetes mellitus

    10/95 Novoseek 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
    X-Linked Hyper IgM Syndrome

    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)
    About This Section

    PubMed articles for CD40LG gene, integrated from 9 sources (see all 2502):
    (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....Neubauer M. (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. (1998)
    3. Immune response gene polymorphisms in renal transplant recipients. (PubMed id 16378074)1, 4, 9 Dmitrienko S....Keown P.A. (2005)
    4. 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....Perez-Aciego P. (2004)
    5. 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. (1995)
    6. 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. (1993)
    7. 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. (1993)
    8. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. (PubMed id 7679801)1, 2, 9 Allen R.C.... Spriggs M.K. (1993)
    9. Determination of carbohydrate structures N-linked to soluble CD154 and characterization of the interactions of CD40 with CD154 expressed in Pichia pastoris and Chinese hamster ovary cells. (PubMed id 11676606)1, 2, 9 Khandekar S.S....Fishman-Lobell J. (2001)
    10. Cloning of TRAP, a ligand for CD40 on human T cells. (PubMed id 1280226)1, 2, 9 Graf D.... Kroczek R.A. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 959 HGNC: 11935 AceView: TNFSF5 Ensembl:ENSG00000102245 euGenes: HUgn959
    ECgene: CD40LG Kegg: 959 H-InvDB: CD40LG

    (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 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/sites/GeneTests/lab/gene/CD40LG

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