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    CD40LG CD40 ligand [ Homo sapiens (human) ]

    Gene ID: 959, updated on 13-Dec-2020

    Summary

    Official Symbol
    CD40LGprovided by HGNC
    Official Full Name
    CD40 ligandprovided by HGNC
    Primary source
    HGNC:HGNC:11935
    See related
    Ensembl:ENSG00000102245 MIM:300386
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IGM; IMD3; TRAP; gp39; CD154; CD40L; HIGM1; T-BAM; TNFSF5; hCD40L
    Summary
    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]
    Expression
    Biased expression in lymph node (RPKM 7.7), appendix (RPKM 4.4) and 10 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CD40LG in Genome Data Viewer
    Location:
    Xq26.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20201120 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (136648158..136660390)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (135730281..135742549)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 320, pseudogene Neighboring gene long intergenic non-protein coding RNA 892 Neighboring gene Rac/Cdc42 guanine nucleotide exchange factor 6 Neighboring gene RNA, U6 small nuclear 972, pseudogene Neighboring gene solute carrier family 25 member 6 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    X-linked hyper-IgM syndrome
    MedGen: C0398689 OMIM: 308230 GeneReviews: X-Linked Hyper IgM Syndrome
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2020-04-08)

    ClinGen Genome Curation PagePubMed
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2020-04-08)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Binding of HIV-1 gp120 to DC-SIGN sensitizes monocyte-derived dendritic cells for CD40L-mediated apoptosis PubMed
    env The binding of HIV-1 gp120 to CD4 molecules on T cells interrupts the sequential cascade of intercellular interactions involving antigen/MHC class II-TCR/CD4, CD40L-CD40, and B71-CD28 PubMed
    Nef nef A significant increase is observed in polyfunctional Nef-specific CD4 T cells expressing CD154 after vaccination with the modified vaccinia virus Ankara (MVA)-expressing HIV-1 nef PubMed
    nef HIV-1 Nef suppresses immunoglobulin class-switch DNA recombination by inducing IkappaBalpha and SOCS proteins, which block CD154, IL-4 and IL-10 cytokine signaling via NF-kappaB and STAT transcription factors PubMed
    Pr55(Gag) gag CD40L expression on the surface of virus-like particles (VLPs) is to target HIV-1 Gag antigens to the CD40 receptor on dendritic cell (DCs) PubMed
    Tat tat HIV-1 Tat-induced platelet activation leads to release of the platelet CD154 (CD40L), an immune modulator PubMed
    tat Recombinant CD40L synergizes with HIV-1 Tat to increase TNF-alpha release from primary human monocytes and microglia in an NF-kappaB-dependent manner. This synergism is attributed to a Tat-mediated up-regulation of CD40 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    CD40 receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    CD40 receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    CD40 receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cytokine activity IEA
    Inferred from Electronic Annotation
    more info
     
    integrin binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    tumor necrosis factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    B cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    CD40 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    T cell costimulation TAS
    Traceable Author Statement
    more info
    PubMed 
    activation of JUN kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integrin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    isotype switching ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    leukocyte cell-cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of T cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of endothelial cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-10 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-12 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of interleukin-4 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    regulation of immunoglobulin production IEA
    Inferred from Electronic Annotation
    more info
     
    tumor necrosis factor-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    CD40 ligand
    Names
    CD40 antigen ligand
    CD40-L
    T-B cell-activating molecule
    T-cell antigen Gp39
    TNF-related activation protein
    tumor necrosis factor (ligand) superfamily member 5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007280.1 RefSeqGene

      Range
      5001..17214
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_141

    mRNA and Protein(s)

    1. NM_000074.3NP_000065.1  CD40 ligand

      See identical proteins and their annotated locations for NP_000065.1

      Status: REVIEWED

      Source sequence(s)
      AL135783, BC071754, X67878
      Consensus CDS
      CCDS14659.1
      UniProtKB/Swiss-Prot
      P29965
      Related
      ENSP00000359663.2, ENST00000370629.7
      Conserved Domains (1) summary
      pfam00229
      Location:138261
      TNF; TNF(Tumour Necrosis Factor) family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      136648158..136660390
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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