Gene Gene information from NCBI Gene database.
Entrez ID 959
Gene name CD40 ligand
Gene symbol CD40LG
Synonyms (NCBI Gene)
CD154CD40LHIGM1IGMIMD3T-BAMTNFSF5TRAPgp39hCD40L
Chromosome X
Chromosome location Xq26.3
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
SNPs SNP information provided by dbSNP.
37
SNP ID Visualize variation Clinical significance Consequence
rs104894768 G>T Pathogenic Coding sequence variant, missense variant
rs104894769 T>A,C Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs104894771 G>C Pathogenic Coding sequence variant, missense variant
rs104894772 A>G Pathogenic Coding sequence variant, missense variant
rs104894773 T>A,C Likely-benign, pathogenic Coding sequence variant, synonymous variant, missense variant
miRNA miRNA information provided by mirtarbase database.
165
miRTarBase ID miRNA Experiments Reference
MIRT005463 hsa-miR-146a-5p ELISALuciferase reporter assayqRT-PCRWestern blot 21236257
MIRT663024 hsa-miR-5681a HITS-CLIP 23824327
MIRT663023 hsa-miR-6867-5p HITS-CLIP 23824327
MIRT663022 hsa-miR-3152-3p HITS-CLIP 23824327
MIRT663021 hsa-miR-4455 HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
FOS Unknown 11160303
GATA3 Activation 18719603
JUND Unknown 11160303
NFKB1 Activation 11751888
NFKB1 Unknown 11160303;11529914;21243522
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0002637 Process Regulation of immunoglobulin production IEA
GO:0002682 Process Regulation of immune system process IEA
GO:0005102 Function Signaling receptor binding IEA
GO:0005125 Function Cytokine activity IBA
GO:0005125 Function Cytokine activity IDA 9468137
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300386 11935 ENSG00000102245
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29965
Protein name CD40 ligand (CD40-L) (T-cell antigen Gp39) (TNF-related activation protein) (TRAP) (Tumor necrosis factor ligand superfamily member 5) (CD antigen CD154) [Cleaved into: CD40 ligand, membrane form; CD40 ligand, soluble form (sCD40L)]
Protein 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 produc
PDB 1ALY , 1I9R , 3LKJ , 3QD6 , 6BRB , 6W9G , 7SGM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00229 TNF 138 261 TNF(Tumour Necrosis Factor) family Domain
Tissue specificity TISSUE SPECIFICITY: Specifically expressed on activated CD4+ T-lymphocytes.
Sequence
MIETYNQTSPRSAATGLPISMKIFMYLLTVFLITQMIGSALFAVYLHRRLDKIEDERNLH
EDFVFMKTIQRCNTGERSLSLLNCEEIKSQFEGFVKDIMLNKEETKKENSFEMQKGDQNP
QIAAHVISEASSKTTSVLQWAEKGYYTMSNNLVTLENGKQLTVKRQGLYYIYAQVTFCSN
REASSQAPFIASLCLKSPGRFERILLRAANTHSSAKPCGQQSIHLGGVFELQPGASVFVN
VTDPSQVSHGTGFTSFGLLKL
Sequence length 261
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
Cell adhesion molecules
T cell receptor signaling pathway
Intestinal immune network for IgA production
Malaria
Toxoplasmosis
Asthma
Autoimmune thyroid disease
Systemic lupus erythematosus
Allograft rejection
Primary immunodeficiency
Viral myocarditis
Lipid and atherosclerosis
  Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
TNFR2 non-canonical NF-kB pathway
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
246
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Common variable immunodeficiency Likely pathogenic rs1569376229 RCV003493731
Hyper-IgM syndrome type 1 Likely pathogenic; Pathogenic rs2148552406, rs2148550523, rs2148552407, rs2148552412, rs2148553684, rs2148551084, rs767889061, rs2148552941, rs2148552379, rs2148553738, rs1215852570, rs2148550585, rs2522106494, rs144855738, rs2148551102
View all (52 more)
RCV001379720
RCV001384131
RCV001387581
RCV001382556
RCV001382557
RCV004819198
RCV001955839
RCV001897038
RCV001954712
RCV001925891
RCV001935283
RCV001895461
RCV002468418
RCV003066380
RCV003066381
RCV003066382
RCV003066383
RCV003066384
RCV003041484
RCV002823843
RCV002823885
RCV002834387
RCV002899648
RCV002927819
RCV003015911
RCV003023907
RCV003023948
RCV003140603
RCV003142255
RCV003228759
RCV002518747
RCV000011907
RCV000011909
RCV000011910
RCV000011912
RCV000011913
RCV000011914
RCV000011918
RCV000011919
RCV003314341
RCV003513701
RCV003511598
RCV003512468
RCV003622715
RCV003622250
RCV001378166
RCV001865515
RCV000606199
RCV000029463
RCV000029464
RCV000029466
RCV003512068
RCV000636648
RCV000685846
RCV000689441
RCV003987683
RCV000781202
RCV000803202
RCV000805406
RCV000818235
RCV001030051
RCV001049523
RCV001070147
RCV001066545
RCV001060070
RCV001060218
RCV001203125
RCV001236186
RCV001226556
RCV001237589
RCV001253461
RCV001264504
Hyperimmunoglobulin M syndrome Pathogenic rs2076118841 RCV001193392
Nonpapillary renal cell carcinoma Likely pathogenic rs2148552406 RCV005912621
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs104894773, rs104894772 -
CD40LG-related disorder Benign; Likely benign rs778398894, rs751481337, rs371664032, rs11575983, rs199914973 RCV003900760
RCV003954324
RCV003922079
RCV003960288
RCV003895671
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achondroplasia and Swiss type agammaglobulinemia Associate 8097258
Acidosis Associate 23144702
Acute Coronary Syndrome Associate 11711459, 31183392, 34239024
Acute Coronary Syndrome Stimulate 14769218
Acute Disease Associate 20978895, 21733938
Adenocarcinoma Associate 36307410
Adenocarcinoma of Lung Associate 23994887, 38011277
Alcoholism Stimulate 35371104
Allergic Fungal Sinusitis Associate 37325657
Alzheimer Disease Stimulate 9394977