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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]
CD40LG (CD40 Ligand) is a Protein Coding gene. Diseases associated with CD40LG include Immunodeficiency With Hyper-Igm, Type 1 and Toxoplasmosis. Among its related pathways are NF-KappaB Family Pathway and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include cytokine activity and CD40 receptor binding. An important paralog of this gene is TNFSF10.
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | PEDF Induced Signaling |
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
|
IL-6 Pathway
.61
NFAT Signaling and Lymphocyte Interactions
.57
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
|
2 | Allograft rejection |
.44
|
THC Differentiation Pathway
.39
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
|
Molecular Mechanisms of Cancer
.51
|
4 | T cell receptor signaling pathway | ||
5 | Akt Signaling |
Akt Signaling
.60
|
p38 Signaling
.60
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
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 | -- |
GO:0007229 | integrin-mediated signaling pathway | IMP | 31331973 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||
SP2: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD40LG 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CD40LG 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CD40LG 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cd40lg 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cd40lg 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CD40LG 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CD40LG 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CD40LG 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CD40LG 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cd40lg 30 |
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636364 | Likely Pathogenic: not provided | 136,659,305(+) | G/A | MISSENSE_VARIANT | |
636391 | Likely Pathogenic: not provided | 136,650,315(+) | TAC/T | FRAMESHIFT_VARIANT | |
636846 | Uncertain Significance: X-linked hyper-IgM syndrome; not provided | 136,656,388(+) | A/G | MISSENSE_VARIANT | |
648466 | Uncertain Significance: X-linked hyper-IgM syndrome | 136,656,382(+) | C/T | MISSENSE_VARIANT | |
650284 | Likely Pathogenic: X-linked hyper-IgM syndrome | 136,659,149(+) | C/T | NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency with hyper-igm, type 1 |
|
|
toxoplasmosis |
|
|
rubella |
|
|
cryoglobulinemia |
|
|
congenital toxoplasmosis |
|