CD40 (CD40 molecule)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 958
Gene name CD40 molecule
Gene symbol CD40
Synonyms (NCBI Gene)
Bp50CDW40TNFRSF5p50
Chromosome 20
Chromosome location 20q13.12
Summary 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 immuno
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs28931586 T>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs774195387 T>C Pathogenic Splice donor variant
rs1568905451 TAA>- Pathogenic Non coding transcript variant, inframe deletion, coding sequence variant
rs1568906348 A>T Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT003393 hsa-miR-224-5p MicroarrayqRT-PCR 19475450
MIRT004620 hsa-miR-486-5p MicroarrayqRT-PCR 19475450
MIRT006789 hsa-miR-503-5p Luciferase reporter assay 22429276
MIRT736408 hsa-miR-491-3p qRT-PCRFlow cytometry 33679688
MIRT875349 hsa-miR-103a CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
IRF1 Activation 18694960
NFKB1 Activation 19164127;9733827
NFKB1 Unknown 11027342;11313274;17031478
NFKBIA Repression 9733827
NR3C2 Activation 16179010
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0002637 Process Regulation of immunoglobulin production IEA
GO:0002768 Process Immune response-regulating cell surface receptor signaling pathway IBA
GO:0002768 Process Immune response-regulating cell surface receptor signaling pathway IEA
GO:0003823 Function Antigen binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
109535 11919 ENSG00000101017
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P25942
Protein name Tumor necrosis factor receptor superfamily member 5 (B-cell surface antigen CD40) (Bp50) (CD40L receptor) (CDw40) (CD antigen CD40)
Protein function Receptor for TNFSF5/CD40LG (PubMed:31331973). Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion (By similarity). {ECO:0000250|UniProtKB:P27512, ECO:000026
PDB 1CZZ , 1D00 , 1FLL , 1LB6 , 3QD6 , 5DMI , 5DMJ , 5IHL , 6FAX , 6PE8 , 6PE9 , 7P3I , 8YX1 , 8YX9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00020 TNFR_c6 62 → 103 TNFR/NGFR cysteine-rich region Domain
Tissue specificity TISSUE SPECIFICITY: B-cells and in primary carcinomas.
Sequence 
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCTEFTETECL
PCGESEFLDTWNRETHCHQHKYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCV
LHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEKCHPWTSCETKDLVVQQAGTN
KTDVVCGPQDRLRALVVIPIIFGILFAILLVLVFIKKVAKKPTNKAPHPKQEPQEINFPD
DLPGSNTAAPVQETLHGCQPVTQEDGKESRISVQERQ
Sequence length 277
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
Cell adhesion molecules
Toll-like receptor signaling pathway
Intestinal immune network for IgA production
Malaria
Toxoplasmosis
Human T-cell leukemia virus 1 infection
Epstein-Barr virus infection
Transcriptional misregulation in cancer
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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hyper-IgM syndrome type 3 Pathogenic rs2145595063, rs28931586, rs1568906348, rs1568905451 RCV000019324
RCV000019325
RCV000019326
RCV000022450
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CD40-related disorder Uncertain significance; Likely benign rs2515721644, rs1323500867 RCV003403901
RCV004756554
Hyper-IgM syndrome type 1 Conflicting classifications of pathogenicity rs774195387 RCV004819197
Hyperimmunoglobulin M syndrome Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs746182207, rs886056721, rs749590513, rs886056719, rs11569300 RCV001844131
RCV001844133
RCV001844130
RCV001844132
RCV001844129
Show/Hide Text Mining Associations (306)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 21114485
Acquired Immunodeficiency Syndrome Associate 9056740
Acute Coronary Syndrome Stimulate 14769218
Acute Coronary Syndrome Associate 20552594, 31183392, 34239024
Adenocarcinoma of Lung Associate 27063419, 37169657
AIDS Associated Nephropathy Associate 10090942
Allergic Fungal Sinusitis Associate 37325657
Alzheimer Disease Inhibit 20110602
Alzheimer Disease Stimulate 22801742, 9394977
Alzheimer Disease Associate 35366391