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Aliases for CD40LG Gene

Aliases for CD40LG Gene

  • CD40 Ligand 2 3 5
  • TNF-Related Activation Protein 2 3 4
  • Tumor Necrosis Factor (Ligand) Superfamily Member 5 2 3
  • T-B Cell-Activating Molecule 2 3
  • CD40 Antigen Ligand 2 3
  • T-Cell Antigen Gp39 3 4
  • TNFSF5 3 4
  • CD40-L 3 4
  • CD40L 3 4
  • TRAP 3 4
  • Tumor Necrosis Factor (Ligand) Superfamily, Member 5 (Hyper-IgM Syndrome) 2
  • Tumor Necrosis Factor Ligand Superfamily Member 5 4
  • Hyper-IgM Syndrome 2
  • CD154 Antigen 4
  • HCD40L 3
  • CD154 3
  • T-BAM 3
  • HIGM1 3
  • Gp39 3
  • IMD3 3
  • IGM 3

External Ids for CD40LG Gene

Previous HGNC Symbols for CD40LG Gene

  • HIGM1
  • IMD3
  • TNFSF5

Previous GeneCards Identifiers for CD40LG Gene

  • GC0XP135456
  • GC0XP135558
  • GC0XP135730
  • GC0XP125001

Summaries for CD40LG Gene

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 Immunodeficiency, X-Linked, With Hyper-Igm and Cd40 Ligand Deficiency. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. GO annotations related to this gene include cytokine activity and CD40 receptor binding.

UniProtKB/Swiss-Prot for CD40LG Gene

  • Cytokine that binds to CD40/TNFRSF5 (PubMed:1280226). Costimulates T-cell proliferation and cytokine production. Its cross-linking on T-cells generates a costimulatory signal which enhances the production of IL4 and IL10 in conjunction with the TCR/CD3 ligation and CD28 costimulation (PubMed:8617933). Induces the activation of NF-kappa-B and kinases MAPK8 and PAK2 in T-cells. Induces tyrosine phosphorylation of isoform 3 of CD28 (PubMed:15067037). Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL4. Involved in immunoglobulin class switching (By similarity).

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD40LG Gene

Genomics for CD40LG Gene

Regulatory Elements for CD40LG Gene

Enhancers for CD40LG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF136671 0.4 ENCODE 13 +25.7 25698 5.3 MTA2 ZMYM3 JUNB REST TBX21 RELA ZNF316 JUND NFYB EED CD40LG LINC00892 GC0XP136652 PIR61624
GH0XF136546 0.4 FANTOM5 5.7 -101.6 -101599 0.2 CD40LG ARHGEF6 MIR934 VGLL1
GH0XF136584 1.6 FANTOM5 Ensembl ENCODE 2.6 -61.1 -61071 5.0 ZNF680 ZNF280D MTA2 JUNB TBX21 ZBTB40 MIR934 VGLL1 ARHGEF6 CD40LG GPR101 RNU6-320P LINC00892
GH0XF136648 0.2 ENCODE 0.8 0.0 -1 0.2 ZNF316 CD40LG LINC00892
GH0XF136646 0.2 ENCODE 0.8 -1.4 -1393 1.2 TRIM24 CD40LG LINC00892
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CD40LG on UCSC Golden Path with GeneCards custom track

Promoters for CD40LG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001919128 1524 2999 ZNF316 PKNOX1 ZMYM3

Genomic Location for CD40LG Gene

Chromosome:
X
Start:
136,648,177 bp from pter
End:
136,660,390 bp from pter
Size:
12,214 bases
Orientation:
Plus strand

Genomic View for CD40LG Gene

Genes around CD40LG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD40LG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD40LG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD40LG Gene

Proteins for CD40LG Gene

  • Protein details for CD40LG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29965-CD40L_HUMAN
    Recommended name:
    CD40 ligand
    Protein Accession:
    P29965

    Protein attributes for CD40LG Gene

    Size:
    261 amino acids
    Molecular mass:
    29274 Da
    Quaternary structure:
    • Homotrimer (PubMed:8589998, PubMed:8626375, PubMed:11676606). Interacts with isoform 3 of CD28 (PubMed:15067037).

    Three dimensional structures from OCA and Proteopedia for CD40LG Gene

neXtProt entry for CD40LG Gene

Post-translational modifications for CD40LG Gene

  • N-linked glycan is a mixture of high mannose and complex type. Glycan structure does not influence binding affinity to CD40.
  • Not O-glycosylated.
  • The soluble form derives from the membrane form by proteolytic processing.
  • Glycosylation at Asn 240
  • Modification sites at PhosphoSitePlus

Other Protein References for CD40LG Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein Products

  • Enzo Life Sciences proteins for CD40LG

No data available for DME Specific Peptides for CD40LG Gene

Domains & Families for CD40LG Gene

Graphical View of Domain Structure for InterPro Entry

P29965

UniProtKB/Swiss-Prot:

CD40L_HUMAN :
  • Belongs to the tumor necrosis factor family.
Family:
  • Belongs to the tumor necrosis factor family.
genes like me logo Genes that share domains with CD40LG: view

Function for CD40LG Gene

Molecular function for CD40LG Gene

UniProtKB/Swiss-Prot Function:
Cytokine that binds to CD40/TNFRSF5 (PubMed:1280226). Costimulates T-cell proliferation and cytokine production. Its cross-linking on T-cells generates a costimulatory signal which enhances the production of IL4 and IL10 in conjunction with the TCR/CD3 ligation and CD28 costimulation (PubMed:8617933). Induces the activation of NF-kappa-B and kinases MAPK8 and PAK2 in T-cells. Induces tyrosine phosphorylation of isoform 3 of CD28 (PubMed:15067037). Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL4. Involved in immunoglobulin class switching (By similarity).
UniProtKB/Swiss-Prot 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) - Molecular Function for CD40LG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IEA --
GO:0005164 tumor necrosis factor receptor binding IEA --
GO:0005174 CD40 receptor binding IPI 9468137
GO:0005515 protein binding IPI 15067037
genes like me logo Genes that share ontologies with CD40LG: view
genes like me logo Genes that share phenotypes with CD40LG: view

Human Phenotype Ontology for CD40LG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD40LG Gene

MGI Knock Outs for CD40LG:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for CD40LG (CD40 Ligand/TNFSF5)

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CD40LG Gene

Localization for CD40LG Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD40LG Gene

Cell membrane; Single-pass type II membrane protein. Cell surface.
CD40 ligand, soluble form: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CD40LG Gene COMPARTMENTS Subcellular localization image for CD40LG gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 3
nucleus 3
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
mitochondrion 2
vacuole 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CD40LG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7678552
genes like me logo Genes that share ontologies with CD40LG: view

Pathways & Interactions for CD40LG Gene

genes like me logo Genes that share pathways with CD40LG: view

SIGNOR curated interactions for CD40LG Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for CD40LG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response IDA 9468137
GO:0006955 immune response IEA --
GO:0007159 leukocyte cell-cell adhesion NAS 9468137
GO:0007257 activation of JUN kinase activity IDA 15067037
GO:0030168 platelet activation IDA 9468137
genes like me logo Genes that share ontologies with CD40LG: view

Drugs & Compounds for CD40LG Gene

(73) Drugs for CD40LG Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
atorvastatin Approved Pharma Competitive, Inhibitor 0

(54) Additional Compounds for CD40LG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD40LG: view

Transcripts for CD40LG Gene

mRNA/cDNA for CD40LG Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CD40LG Gene

CD40 ligand:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for CD40LG (CD40 Ligand/TNFSF5)

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CD40LG Gene

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

Relevant External Links for CD40LG Gene

GeneLoc Exon Structure for
CD40LG
ECgene alternative splicing isoforms for
CD40LG

Expression for CD40LG Gene

mRNA expression in normal human tissues for CD40LG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD40LG Gene

This gene is overexpressed in Whole Blood (x19.7), Small Intestine - Terminal Ileum (x6.4), and Spleen (x5.7).

Protein differential expression in normal tissues from HIPED for CD40LG Gene

This gene is overexpressed in Blymphocyte (53.1) and NK cells (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CD40LG Gene



NURSA nuclear receptor signaling pathways regulating expression of CD40LG Gene:

CD40LG

SOURCE GeneReport for Unigene cluster for CD40LG Gene:

Hs.592244

mRNA Expression by UniProt/SwissProt for CD40LG Gene:

P29965-CD40L_HUMAN
Tissue specificity: Specifically expressed on activated CD4+ T-lymphocytes.
genes like me logo Genes that share expression patterns with CD40LG: view

Primer Products

No data available for Protein tissue co-expression partners for CD40LG Gene

Orthologs for CD40LG Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD40LG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD40LG 34 35
  • 99.37 (n)
cow
(Bos Taurus)
Mammalia CD40LG 34 35
  • 88.76 (n)
dog
(Canis familiaris)
Mammalia CD40LG 34 35
  • 85.77 (n)
rat
(Rattus norvegicus)
Mammalia Cd40lg 34
  • 83.85 (n)
mouse
(Mus musculus)
Mammalia Cd40lg 34 16 35
  • 83.33 (n)
oppossum
(Monodelphis domestica)
Mammalia CD40LG 35
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CD40LG 35
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves CD40LG 34 35
  • 57.97 (n)
lizard
(Anolis carolinensis)
Reptilia CD40LG 35
  • 33 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cd40lg 34
  • 54.48 (n)
Species where no ortholog for CD40LG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CD40LG Gene

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

Paralogs for CD40LG Gene

(1) SIMAP similar genes for CD40LG Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CD40LG: view

No data available for Paralogs for CD40LG Gene

Variants for CD40LG Gene

Sequence variations from dbSNP and Humsavar for CD40LG Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs104894768 Pathogenic, X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230] 136,659,309(+) GGGAG(G/T)AGTAT reference, missense
rs104894769 Pathogenic, X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230] 136,659,093(+) AACCC(C/T)GGAAA reference, missense
rs104894771 Pathogenic, X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230] 136,659,332(+) CAGGT(C/G)CTTCG reference, missense
rs104894774 X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230], Pathogenic 136,648,355(+) CCAGA(G/T)GATTG reference, missense
rs104894777 Pathogenic, X-linked immunodeficiency with hyper-IgM 1 (HIGM1) [MIM:308230] 136,659,047(+) TACAG(G/T)GGGCT reference, missense

Variation tolerance for CD40LG Gene

Residual Variation Intolerance Score: 46.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD40LG Gene

Human Gene Mutation Database (HGMD)
CD40LG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD40LG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CD40LG Gene

Disorders for CD40LG Gene

MalaCards: The human disease database

(355) MalaCards diseases for CD40LG Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency, x-linked, with hyper-igm
  • immunodeficiency with hyper-igm, type 1
cd40 ligand deficiency
  • immunodeficiency with hyper-igm, type 1
toxoplasmosis
  • disseminated toxoplasmosis
rubella
  • german measles
pneumonia
  • acute pneumonia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CD40L_HUMAN
  • 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. {ECO:0000269 PubMed:7532185, ECO:0000269 PubMed:7678782, ECO:0000269 PubMed:7679206, ECO:0000269 PubMed:7679801, ECO:0000269 PubMed:7717401, ECO:0000269 PubMed:8094231, ECO:0000269 PubMed:8550833, ECO:0000269 PubMed:8889581, ECO:0000269 PubMed:9150729, ECO:0000269 PubMed:9746782}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CD40LG

Genetic Association Database (GAD)
CD40LG
Human Genome Epidemiology (HuGE) Navigator
CD40LG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD40LG
genes like me logo Genes that share disorders with CD40LG: view

No data available for Genatlas for CD40LG Gene

Publications for CD40LG Gene

  1. Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus. (PMID: 19421221) Malheiros D. … Petzl-Erler M.L. (Genes Immun. 2009) 3 22 46 64
  2. 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. (PMID: 11676606) Khandekar S.S. … Fishman-Lobell J. (Protein Expr. Purif. 2001) 3 4 22 64
  3. The role of polar interactions in the molecular recognition of CD40L with its receptor CD40. (PMID: 9605317) Singh J. … Thomas D. (Protein Sci. 1998) 3 4 22 64
  4. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. (PMID: 7678782) Aruffo A. … Ochs H.D. (Cell 1993) 2 3 4 64
  5. Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring. (PMID: 20459687) Eid N.A. … Ibrahim M.E. (Malar. J. 2010) 3 46 64

Products for CD40LG Gene

Sources for CD40LG Gene

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