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CD40LG CD40 ligand [ Homo sapiens (human) ]

Gene ID: 959, updated on 11-Jul-2021

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
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Genomic context

See CD40LG in Genome Data Viewer
Location:
Xq26.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (136648158..136660390)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (135730317..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
Hyper-IgM syndrome type 1
MedGen: C0398689 OMIM: 308230 GeneReviews: X-Linked Hyper IgM Syndrome
Compare labs

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
enables CD40 receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables CD40 receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables CD40 receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables cytokine activity IEA
Inferred from Electronic Annotation
more info
 
enables integrin binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables tumor necrosis factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in B cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in B cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in CD40 signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in T cell costimulation TAS
Traceable Author Statement
more info
PubMed 
involved_in inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in integrin-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in isotype switching ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in leukocyte cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in platelet activation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of endothelial cell apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interleukin-10 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interleukin-12 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of interleukin-4 production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of immunoglobulin production IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in 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 109.20210514

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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