Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CD40 Gene

Aliases for CD40 Gene

  • CD40 Molecule 2 3
  • CD40 Molecule, TNF Receptor Superfamily Member 5 2 3 5
  • CD40L Receptor 3 4
  • TNFRSF5 3 4
  • CDW40 3 4
  • Bp50 3 4
  • Tumor Necrosis Factor Receptor Superfamily, Member 5 2
  • B Cell Surface Antigen CD40 3
  • B-Cell Surface Antigen CD40 4
  • B Cell-Associated Molecule 3
  • CD40 Antigen 4
  • P50 3

External Ids for CD40 Gene

Previous HGNC Symbols for CD40 Gene

  • TNFRSF5

Previous GeneCards Identifiers for CD40 Gene

  • GC20P044181
  • GC20P044746
  • GC20P041488

Summaries for CD40 Gene

Entrez Gene Summary for CD40 Gene

  • 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]

GeneCards Summary for CD40 Gene

CD40 (CD40 Molecule) is a Protein Coding gene. Diseases associated with CD40 include immunodeficiency with hyper-igm, type 3 and cd40 deficiency. Among its related pathways are Allograft rejection and Cell adhesion molecules (CAMs). GO annotations related to this gene include enzyme binding and receptor activity. An important paralog of this gene is TNFRSF14.

UniProtKB/Swiss-Prot for CD40 Gene

  • Receptor for TNFSF5/CD40LG. Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion.

Gene Wiki entry for CD40 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD40 Gene

Genomics for CD40 Gene

Regulatory Elements for CD40 Gene

Enhancers for CD40 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CD40 on UCSC Golden Path with GeneCards custom track

Promoters for CD40 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CD40 on UCSC Golden Path with GeneCards custom track

Genomic Location for CD40 Gene

Chromosome:
20
Start:
46,118,250 bp from pter
End:
46,129,863 bp from pter
Size:
11,614 bases
Orientation:
Plus strand

Genomic View for CD40 Gene

Genes around CD40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD40 Gene

Proteins for CD40 Gene

  • Protein details for CD40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25942-TNR5_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 5
    Protein Accession:
    P25942
    Secondary Accessions:
    • E1P5S9
    • Q53GN5
    • Q5JY15
    • Q5U007
    • Q7M4Q8
    • Q86YK5
    • Q9BYU0

    Protein attributes for CD40 Gene

    Size:
    277 amino acids
    Molecular mass:
    30619 Da
    Quaternary structure:
    • Monomer and homodimer. The variant form found in the bladder carcinoma cell line Hu549 does not form homodimers. Interacts with TRAF1, TRAF2, TRAF3, TRAF5 and TRAF6. Interacts with TRAF6 and MAP3K8; the interaction is required for ERK activation.

    Three dimensional structures from OCA and Proteopedia for CD40 Gene

    Alternative splice isoforms for CD40 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD40 Gene

Proteomics data for CD40 Gene at MOPED

Post-translational modifications for CD40 Gene

  • Glycosylation at Asn 153 and Asn 180
  • Modification sites at PhosphoSitePlus

Other Protein References for CD40 Gene

No data available for DME Specific Peptides for CD40 Gene

Domains & Families for CD40 Gene

Suggested Antigen Peptide Sequences for CD40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P25942

UniProtKB/Swiss-Prot:

TNR5_HUMAN :
  • Contains 4 TNFR-Cys repeats.
Similarity:
  • Contains 4 TNFR-Cys repeats.
genes like me logo Genes that share domains with CD40: view

Function for CD40 Gene

Molecular function for CD40 Gene

UniProtKB/Swiss-Prot Function:
Receptor for TNFSF5/CD40LG. Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion.
genes like me logo Genes that share phenotypes with CD40: view

Human Phenotype Ontology for CD40 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD40 Gene

MGI Knock Outs for CD40:

Animal Model Products

miRNA for CD40 Gene

miRTarBase miRNAs that target CD40

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CD40 Gene

Localization for CD40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD40 Gene

Isoform I: Cell membrane; Single-pass type I membrane protein.
Isoform II: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CD40 Gene COMPARTMENTS Subcellular localization image for CD40 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 3
endosome 2
lysosome 2
nucleus 2
vacuole 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CD40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CD40: view

Pathways & Interactions for CD40 Gene

genes like me logo Genes that share pathways with CD40: view

SIGNOR curated interactions for CD40 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for CD40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002768 immune response-regulating cell surface receptor signaling pathway IEA --
GO:0006461 protein complex assembly TAS 10748139
GO:0006955 immune response IBA --
GO:0007275 multicellular organism development IBA --
GO:0030168 platelet activation NAS 9468137
genes like me logo Genes that share ontologies with CD40: view

Drugs & Compounds for CD40 Gene

(72) Drugs for CD40 Gene - From: ClinicalTrials, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
rituximab Approved Pharma Therapeutic Antibodies 1593
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 499
CD40 ligand Pharma 0
Antibodies Pharma 5531
Antibodies, Monoclonal Pharma 3413

(55) Additional Compounds for CD40 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD40: view

Transcripts for CD40 Gene

Unigene Clusters for CD40 Gene

CD40 molecule, TNF receptor superfamily member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CD40 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: -

Relevant External Links for CD40 Gene

GeneLoc Exon Structure for
CD40
ECgene alternative splicing isoforms for
CD40

Expression for CD40 Gene

mRNA expression in normal human tissues for CD40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CD40 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.7), Breast (10.9), Platelet (10.2), and Gallbladder (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CD40 Gene



SOURCE GeneReport for Unigene cluster for CD40 Gene Hs.472860

mRNA Expression by UniProt/SwissProt for CD40 Gene

P25942-TNR5_HUMAN
Tissue specificity: B-cells and in primary carcinomas.
genes like me logo Genes that share expression patterns with CD40: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CD40 Gene

Orthologs for CD40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD40 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CD40 35
  • 76.65 (n)
  • 67.87 (a)
CD40 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CD40 35
  • 79.34 (n)
  • 71.59 (a)
CD40 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cd40 35
  • 71.29 (n)
  • 62.77 (a)
Cd40 16
Cd40 36
  • 60 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CD40 35
  • 99.4 (n)
  • 99.1 (a)
rat
(Rattus norvegicus)
Mammalia Cd40 35
  • 70.56 (n)
  • 60.58 (a)
oppossum
(Monodelphis domestica)
Mammalia CD40 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves CD40 35
  • 52.58 (n)
  • 42.64 (a)
CD40 36
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CD40 36
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cd40 35
  • 47.77 (n)
  • 39.46 (a)
zebrafish
(Danio rerio)
Actinopterygii cd40 36
  • 25 (a)
ManyToMany
Species with no ortholog for CD40:
  • A. gosspyii yeast (Ashbya 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)

Evolution for CD40 Gene

ENSEMBL:
Gene Tree for CD40 (if available)
TreeFam:
Gene Tree for CD40 (if available)

Paralogs for CD40 Gene

(3) SIMAP similar genes for CD40 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CD40: view

Variants for CD40 Gene

Sequence variations from dbSNP and Humsavar for CD40 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs28931586 Immunodeficiency with hyper-IgM 3 (HIGM3) 46,122,349(+) AATAC(C/T)GCGAC nc-transcript-variant, reference, missense
rs11569321 - 46,122,724(+) CCGCT(C/T)ATGCT nc-transcript-variant, reference, missense
rs11086998 - 46,128,885(+) AGGCC(C/G/T)CCCAC nc-transcript-variant, reference, missense, utr-variant-3-prime
VAR_039301 Bladder carcinoma cell line Hu549
VAR_039302 Bladder carcinoma cell line Hu549

Structural Variations from Database of Genomic Variants (DGV) for CD40 Gene

Variant ID Type Subtype PubMed ID
dgv1329e1 CNV Complex 17122850
nsv833993 CNV Gain 17160897

Variation tolerance for CD40 Gene

Residual Variation Intolerance Score: 58.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.02; 20.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD40 Gene

HapMap Linkage Disequilibrium report
CD40
Human Gene Mutation Database (HGMD)
CD40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD40 Gene

Disorders for CD40 Gene

MalaCards: The human disease database

(38) MalaCards diseases for CD40 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency with hyper-igm, type 3
  • cd40 deficiency
cd40 deficiency
  • type 3 hyper-igm immunodeficiency
cd40 ligand deficiency
  • higmx-1
hyperimmunoglobulin syndrome
immunodeficiency, x-linked, with hyper-igm
  • immunodeficiency with hyper igm type 1
- elite association - COSMIC cancer census association via MalaCards
Search CD40 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TNR5_HUMAN
  • Immunodeficiency with hyper-IgM 3 (HIGM3) [MIM:606843]: A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. {ECO:0000269 PubMed:11675497}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CD40

Genetic Association Database (GAD)
CD40
Human Genome Epidemiology (HuGE) Navigator
CD40
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD40
genes like me logo Genes that share disorders with CD40: view

No data available for Genatlas for CD40 Gene

Publications for CD40 Gene

  1. CD40-tumor necrosis factor receptor-associated factor (TRAF) interactions: regulation of CD40 signaling through multiple TRAF binding sites and TRAF hetero-oligomerization. (PMID: 9718306) Pullen S.S. … Kehry M.R. (Biochemistry 1998) 3 4 23 67
  2. CD40 expression and its association with low-grade inflammation in a Greek population of type 1 diabetic juveniles: evidence for differences in CD40 mRNA isoforms expressed by peripheral blood mononuclear cells. (PMID: 19834879) Chatzigeorgiou A.E. … Kamper E.F. (Exp. Clin. Endocrinol. Diabetes 2010) 3 23
  3. CD40 is a regulator for vascular endothelial growth factor in the tumor microenvironment of glioma. (PMID: 20303602) Xie F. … Zhang X. (J. Neuroimmunol. 2010) 3 23
  4. CD40 signaling activated by Epstein-Barr virus promotes cell survival and proliferation in gastric carcinoma-derived human epithelial cells. (PMID: 19397878) Imadome K. … Fujiwara S. (Microbes Infect. 2009) 3 23
  5. Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus. (PMID: 19421221) Malheiros D. … Petzl-Erler M.L. (Genes Immun. 2009) 3 23

Products for CD40 Gene

Sources for CD40 Gene

Content