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This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]
CD40 (CD40 Molecule) is a Protein Coding gene. Diseases associated with CD40 include Immunodeficiency With Hyper-Igm, Type 3 and Immunodeficiency With Hyper-Igm, Type 1. Among its related pathways are Transcriptional misregulation in cancer and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include enzyme binding. An important paralog of this gene is TNFRSF11A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003823 | antigen binding | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IEA,IPI | 7527023 |
GO:0019899 | enzyme binding | IPI | 12223522 |
GO:0019904 | protein domain specific binding | IEA | -- |
GO:0031625 | ubiquitin protein ligase binding | IPI | 11279055 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | ISS,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Allograft rejection |
.44
|
THC Differentiation Pathway
.39
|
2 | PEDF Induced Signaling |
NFAT Signaling and Lymphocyte Interactions
.57
STAT3 Pathway
.47
|
|
3 | Toll-like Receptor Signaling Pathway | ||
4 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
5 | 4-1BB Pathway |
CD40 Signaling
.54
|
NF-KappaB Activation by EBV
.42
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001934 | positive regulation of protein phosphorylation | IMP | 21410936 |
GO:0002376 | immune system process | IEA | -- |
GO:0002768 | immune response-regulating cell surface receptor signaling pathway | IEA,IBA | 21873635 |
GO:0006874 | cellular calcium ion homeostasis | IMP | 21410936 |
GO:0006954 | inflammatory response | TAS,IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
rituximab | Approved | Pharma | Therapeutic Antibodies | 2024 | ||
Simvastatin | Approved | Pharma | Inhibitor, Competitive | HMG-CoA reductase inhibitor | 582 | |
nivolumab | Approved | Pharma | Therapeutic Antibodies, Immunotherapies | 1165 | ||
Pembrolizumab | Approved | Pharma | 1266 | |||
Dacetuzumab | Investigational | Pharma | Target, antibody | 9 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD40 30 |
|
||
Dog (Canis familiaris) |
Mammalia | CD40 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CD40 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cd40 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cd40 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CD40 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CD40 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CD40 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cd40 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cd40 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636399 | Uncertain Significance: not provided | 46,128,188(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
714820 | Benign/Likely Benign: Hyper-IgM syndrome type 3; not provided | 46,128,923(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
728215 | Likely Benign: not provided | 46,122,365(+) | G/A | INTRON_VARIANT | |
745831 | Likely Benign: not provided | 46,121,825(+) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
750493 | Conflicting Interpretations: Hyper-IgM syndrome type 3; not provided | 46,123,166(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758796 | CNV | loss | 17122850 |
nsv1057686 | CNV | loss | 25217958 |
nsv1138961 | CNV | deletion | 24896259 |
nsv586135 | CNV | loss | 21841781 |
nsv833993 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency with hyper-igm, type 3 |
|
|
immunodeficiency with hyper-igm, type 1 |
|
|
cd40 ligand deficiency |
|
|
myocarditis |
|
|
agammaglobulinemia, x-linked |
|