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] See more...

Aliases for CD40LG Gene

Aliases for CD40LG Gene

  • CD40 Ligand 2 3 4 5
  • TNF-Related Activation Protein 2 3 4
  • CD40L 2 3 4
  • TRAP 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
  • HCD40L 2 3
  • CD40-L 3 4
  • CD154 2 3
  • Gp39 2 3
  • 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
  • CD40LG 5
  • HIGM1 3
  • T-BAM 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 With Hyper-Igm, Type 1 and Cd40 Ligand Deficiency. Among its related pathways are IL4-mediated signaling events and A-beta Pathways: Uptake and Degradation. Gene Ontology (GO) annotations related to this gene include cytokine activity and CD40 receptor binding. An important paralog of this gene is TNFSF11.

UniProtKB/Swiss-Prot Summary for CD40LG Gene

  • Cytokine that acts as a ligand to CD40/TNFRSF5 (PubMed:1280226, PubMed:31331973). Costimulates T-cell proliferation and cytokine production (PubMed:8617933). 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 (PubMed:15067037, PubMed:31331973). Induces the activation of kinases MAPK8 and PAK2 in T-cells (PubMed:15067037). 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 (By similarity). Involved in immunoglobulin class switching (By similarity).
  • [CD40 ligand, soluble form]: Acts as a ligand for integrins, specifically ITGA5:ITGB1 and ITGAV:ITGB3; both integrins and the CD40 receptor are required for activation of CD40-CD40LG signaling, which have cell-type dependent effects, such as B-cell activation, NF-kappa-B signaling and anti-apoptotic signaling.

Gene Wiki entry for CD40LG Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD40LG Gene

Genomics for CD40LG Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CD40LG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ136646 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 250.7 +4.8 4789 13.5 ZNF316 EBF1 BHLHE40 MTA3 ZMYM3 PKNOX1 TRIM24 RUNX3 CD40LG MIR934 VGLL1 HSALNG0140335 ARHGEF6
GH0XJ136907 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 10.3 +261.7 261743 3.8 MYC IKZF1 ZNF600 NFIC POLR2A ZIC2 ZBTB10 CEBPB SMAD5 TRIM22 ENSG00000234062 lnc-CD40LG-2 lnc-RBMX-2 SRRM1P3 RBMX MAP7D3 ADGRG4 RNU6-972P CD40LG ARHGEF6
GH0XJ136671 Enhancer 0.8 ENCODE dbSUPER 13.1 +25.7 25716 5.3 BCLAF1 BCL11A TRIM22 MAFF IRF4 ZNF316 SMARCA5 MAFK BATF IKZF1 CD40LG LINC00892 HSALNG0140335 ARHGEF6
GH0XJ136683 Enhancer 0.3 dbSUPER 14.5 +36.9 36936 3.1 SPI1 IKZF1 CD40LG LINC00892 HSALNG0140335 RF00017-8131 ARHGEF6
GH0XJ136676 Enhancer 0.3 dbSUPER 13.1 +29.0 29007 0.6 CBX8 HSALNG0140335 CD40LG LINC00892 ARHGEF6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD40LG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD40LG

Top Transcription factor binding sites by QIAGEN in the CD40LG gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • STAT1
  • STAT1alpha
  • STAT1beta
  • TBP
  • TFIID

Genomic Locations for CD40LG Gene

Latest Assembly
chrX:136,648,158-136,660,390
(GRCh38/hg38)
Size:
12,233 bases
Orientation:
Plus strand

Previous Assembly
chrX:135,730,317-135,742,549
(GRCh37/hg19 by Entrez Gene)
Size:
12,233 bases
Orientation:
Plus strand

chrX:135,730,352-135,742,549
(GRCh37/hg19 by Ensembl)
Size:
12,198 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:8626375, PubMed:11676606, PubMed:8589998). Interacts with isoform 3 of CD28 (PubMed:15067037). CD40 ligand, soluble form: Exists as either a monomer or a homotrimer (PubMed:8626375, PubMed:31331973). Forms a ternary complex between CD40 and integrins for CD40-CD40LG signaling (PubMed:31331973).

    Three dimensional structures from OCA and Proteopedia for CD40LG Gene

neXtProt entry for CD40LG Gene

Post-translational modifications for CD40LG Gene

  • The soluble form derives from the membrane form by proteolytic processing.
  • N-linked glycan is a mixture of high mannose and complex type. Glycan structure does not influence binding affinity to CD40.
  • Not O-glycosylated.
  • Glycosylation at Asn240
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CD40L_HUMAN (610)

Other Protein References for CD40LG Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for CD40LG

Protein products for research

  • Abcam proteins for CD40LG

No data available for DME Specific Peptides for CD40LG Gene

Domains & Families for CD40LG Gene

Gene Families for CD40LG Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • CD markers
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for CD40LG Gene

InterPro:
Blocks:
  • Tumor Necrosis Factor
  • CD40 ligand/CD154 antigen signature

Suggested Antigen Peptide Sequences for CD40LG Gene

GenScript: Design optimal peptide antigens:
  • CD40 ligand (C1L3E0_HUMAN)
  • Tumor necrosis factor ligand superfamily member 5 (CD40L_HUMAN)
  • VH4 heavy chain variable region (O95973_HUMAN)
  • Tumor necrosis factor ligand superfamily member 5 (Q45QX2_HUMAN)

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 acts as a ligand to CD40/TNFRSF5 (PubMed:1280226, PubMed:31331973). Costimulates T-cell proliferation and cytokine production (PubMed:8617933). 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 (PubMed:15067037, PubMed:31331973). Induces the activation of kinases MAPK8 and PAK2 in T-cells (PubMed:15067037). 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 (By similarity). Involved in immunoglobulin class switching (By similarity).
UniProtKB/Swiss-Prot Function:
[CD40 ligand, soluble form]: Acts as a ligand for integrins, specifically ITGA5:ITGB1 and ITGAV:ITGB3; both integrins and the CD40 receptor are required for activation of CD40-CD40LG signaling, which have cell-type dependent effects, such as B-cell activation, NF-kappa-B signaling and anti-apoptotic signaling.

Phenotypes From GWAS Catalog for CD40LG Gene

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 IEA,IPI 9468137
GO:0005178 integrin binding IMP 31331973
GO:0005515 protein binding IEA,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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD40LG

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. Note=Release of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and a matrix metalloproteinases (MMP) inhibitor-sensitive pathway. {ECO:0000269 PubMed:15193700}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD40LG gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 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:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7678552
GO:0009897 external side of plasma membrane IEA --
genes like me logo Genes that share ontologies with CD40LG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD40LG Gene

Pathways & Interactions for CD40LG Gene

PathCards logo

SuperPathways for CD40LG Gene

SuperPathway Contained pathways
1 PEDF Induced Signaling
.94
.94
.73
.71
.62
.61
.57
.47
.46
2 Allograft rejection
.44
.39
3 ERK Signaling
.61
.61
.51
4 T cell receptor signaling pathway
5 Akt Signaling
.60
.60
genes like me logo Genes that share pathways with CD40LG: view

Pathways by source for CD40LG Gene

23 Qiagen pathways for CD40LG Gene
  • Akt Signaling
  • all-trans-Retinoic Acid Signaling in Brain
  • Antioxidant Action of Vitamin-C
  • CD40 Signaling
  • Endothelin-1 Signaling Pathway
2 Cell Signaling Technology pathways for CD40LG Gene

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:0002637 regulation of immunoglobulin production IEA --
GO:0006954 inflammatory response IEA,IDA 9468137
GO:0006955 immune response IEA --
GO:0007159 leukocyte cell-cell adhesion NAS 9468137
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with CD40LG: view

Drugs & Compounds for CD40LG Gene

(75) Drugs for CD40LG Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atorvastatin Approved Pharma 928
Ruplizumab Investigational Pharma Target 0

(53) 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 :
12 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD40LG

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

Expression for CD40LG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CD40LG Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for CD40LG Gene

  • Blood(4.7)
  • Lymph node(3.4)
  • Spleen(3.3)
  • Bone marrow(2.9)
  • Kidney(2.6)
  • Intestine(2.6)
  • Heart(2.5)
  • Liver(2.4)
  • Skin(2.3)
  • Nervous system(2.3)
  • Muscle(2.1)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CD40LG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
Regions:
Head and neck:
  • face
  • head
  • lip
  • mouth
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
General:
  • blood
  • bone marrow
  • coagulation system
  • lymph node
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CD40LG: view

Primer products for research

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 29 30
  • 99.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CD40LG 29 30
  • 88.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CD40LG 29 30
  • 85.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cd40lg 29
  • 83.85 (n)
Mouse
(Mus musculus)
Mammalia Cd40lg 29 16 30
  • 83.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CD40LG 30
  • 55 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CD40LG 30
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CD40LG 29 30
  • 57.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CD40LG 30
  • 33 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cd40lg 29
  • 54.48 (n)
Species where no ortholog for CD40LG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CD40LG: view image
Alliance of Genome Resources:
Additional Orthologs for CD40LG

Paralogs for CD40LG Gene

Paralogs for CD40LG Gene

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

  • CD40L_HUMAN
  • C1L3E0_HUMAN
  • Q45QX2_HUMAN
genes like me logo Genes that share paralogs with CD40LG: view

Variants for CD40LG Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD40LG Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1005819 Uncertain Significance: Hyper-IgM syndrome type 1 136,659,062(+) T/A
NM_000074.3(CD40LG):c.433T>A (p.Tyr145Asn)
MISSENSE
1024336 Uncertain Significance: Hyper-IgM syndrome type 1 136,648,297(+) C/G
NM_000074.3(CD40LG):c.49C>G (p.Leu17Val)
MISSENSE
1040297 Uncertain Significance: Hyper-IgM syndrome type 1 136,648,321(+) A/G
NM_000074.3(CD40LG):c.73A>G (p.Met25Val)
MISSENSE
842967 Uncertain Significance: Hyper-IgM syndrome type 1 136,659,180(+) C/T
NM_000074.3(CD40LG):c.551C>T (p.Ser184Leu)
MISSENSE
846264 Pathogenic: Hyper-IgM syndrome type 1 136,656,394(+) GA/G
NM_000074.3(CD40LG):c.386del (p.Glu129fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD40LG Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CD40LG Gene

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

SNP Genotyping and Copy Number Assays for research

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

(136) MalaCards diseases for CD40LG Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency with hyper-igm, type 1
  • higm1
cd40 ligand deficiency
  • higmx-1
toxoplasmosis
  • disseminated toxoplasmosis
congenital toxoplasmosis
  • toxoplasmosis - congen.
rubella
  • german measles
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CD40L_HUMAN
  • Immunodeficiency with hyper-IgM, type 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:26545377, ECO:0000269 PubMed:31331973, 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 variants affecting the gene represented in this entry.

Additional Disease Information for CD40LG

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CD40LG: view

No data available for Genatlas for CD40LG Gene

Publications for CD40LG Gene

  1. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. (PMID: 7678782) Aruffo A … Neubauer M (Cell 1993) 2 3 4 22 72
  2. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. (PMID: 7679206) Korthäuer U … Kroczek RA (Nature 1993) 3 4 22 72
  3. Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus. (PMID: 19421221) Malheiros D … Petzl-Erler ML (Genes and immunity 2009) 3 22 40
  4. Allelic variants of CD40 and CD40L genes interact to promote antibiotic-induced cutaneous allergic reactions. (PMID: 19735272) Kim SH … Adverse Drug Reaction Research Group in Korea (Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2009) 3 22 40
  5. Immune response gene polymorphisms in renal transplant recipients. (PMID: 16378074) Dmitrienko S … Keown PA (Transplantation 2005) 3 22 40

Products for CD40LG Gene

Sources for CD40LG Gene