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Aliases for CD40 Gene

Aliases for CD40 Gene

  • CD40 Molecule, TNF Receptor Superfamily Member 5 2 3
  • TNFRSF5 3 4 6
  • CD40L Receptor 3 4
  • CDW40 3 4
  • Bp50 3 4
  • Nerve Growth Factor Receptor-Related B-Lymphocyte Activation Molecule 3
  • Tumor Necrosis Factor Receptor Superfamily, Member 5 2
  • Tumor Necrosis Factor Receptor Superfamily Member 5 3
  • CD40 Antigen (TNF Receptor Superfamily Member 5) 3
  • B Cell Surface Antigen CD40 3
  • B-Cell Surface Antigen CD40 4
  • B Cell-Associated Molecule 3
  • CD40 Type II Isoform 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, TNF Receptor Superfamily Member 5) is a Protein Coding gene. Diseases associated with CD40 include immunodeficiency with hyper-igm, type 3 and cd40 deficiency. Among its related pathways are Class I MHC mediated antigen processing and presentation and NF-KappaB Family Pathway. GO annotations related to this gene include signal transducer activity 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

Genomic Location for CD40 Gene

Start:
46,118,260 bp from pter
End:
46,129,863 bp from pter
Size:
11,604 bases
Orientation:
Plus strand

Genomic View for CD40 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn153 and Asn180
  • Modification sites at PhosphoSitePlus

Other Protein References for CD40 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CD40 Gene

Domains for CD40 Gene

Gene Families for CD40 Gene

HGNC:
  • CD :CD molecules
  • TNFRSF :Tumor necrosis factor receptor superfamily
IUPHAR :

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 :
  • P25942
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

Gene Ontology (GO) - Molecular Function for CD40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding IEA --
GO:0004871 signal transducer activity TAS 9671306
GO:0004872 receptor activity TAS 10092834
GO:0005515 protein binding IPI 12140561
GO:0019899 enzyme binding IPI 12223522
genes like me logo Genes that share ontologies with CD40: view
genes like me logo Genes that share phenotypes with CD40: view

Animal Models for CD40 Gene

MGI Knock Outs for CD40:

miRNA for CD40 Gene

miRTarBase miRNAs that target CD40

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 3
endosome 2
lysosome 2
vacuole 2
cytoskeleton 1
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CD40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 10748139
GO:0009897 external side of plasma membrane IEA --
genes like me logo Genes that share ontologies with CD40: view

Pathways for CD40 Gene

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

Gene Ontology (GO) - Biological Process for CD40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IMP 21410936
GO:0002768 immune response-regulating cell surface receptor signaling pathway IEA --
GO:0006461 protein complex assembly TAS 10748139
GO:0006874 cellular calcium ion homeostasis IMP 21410936
GO:0006954 inflammatory response IEA --
genes like me logo Genes that share ontologies with CD40: view

Compounds for CD40 Gene

(1) HMDB Compounds for CD40 Gene

Compound Synonyms Cas Number PubMed IDs
Simvastatin
  • (+)-Simvastatin
79902-63-9

(1) IUPHAR Ligand for CD40 Gene

Ligand Type Action Affinity Pubmed IDs
CD40 ligand None None

(116) Novoseek inferred chemical compound relationships for CD40 Gene

Compound -log(P) Hits PubMed IDs
lfa703 69.8 4
rantes 59.7 31
blys 55.5 9
ionomycin 48.9 9
pdtc 47.1 3
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

Integrated Proteomics: protein expression 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 expressions with CD40: view

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia CD40 35
  • 99.4 (n)
  • 99.1 (a)
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
oppossum
(Monodelphis domestica)
Mammalia CD40 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd40 35
  • 70.56 (n)
  • 60.58 (a)
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

Selected 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 MAF
rs745307 -- 46,118,447(-) CCTTT(C/T)CTTCT intron-variant
rs752118 -- 46,118,099(+) TGGGA(C/T)CATGC upstream-variant-2KB
rs1535045 -- 46,119,460(+) GAGGG(A/C/T)GGAGC intron-variant
rs1800686 -- 46,117,764(+) CACAC(A/G)AGGGA upstream-variant-2KB
rs1801293 -- 46,122,743(+) TTTGG(G/T)GTCAA reference, synonymous-codon

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

Relevant External Links for CD40 Gene

HapMap Linkage Disequilibrium report
CD40
Human Gene Mutation Database (HGMD)
CD40
Locus Specific Mutation Databases (LSDB)
CD40

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

Disorders for CD40 Gene

(1) OMIM Diseases for CD40 Gene (109535)

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.

(93) Novoseek inferred disease relationships for CD40 Gene

Disease -log(P) Hits PubMed IDs
hyper-igm syndrome 80.7 18
higm3 77.3 3
necrosis 74.5 115
tumors 61.1 160
m syndrome 59 2

Relevant External Links for CD40

Genetic Association Database (GAD)
CD40
Human Genome Epidemiology (HuGE) Navigator
CD40
genes like me logo Genes that share disorders with CD40: view

Publications for CD40 Gene

  1. Tumor necrosis factor receptor-associated factor 6 (TRAF6) stimulates extracellular signal-regulated kinase (ERK) activity in CD40 signaling along a ras-independent pathway. (PMID: 9432981) Kashiwada M. … Takemori T. (J. Exp. Med. 1998) 3 4 23
  2. Cloning and characterization of a cDNA encoding the human homolog of tumor necrosis factor receptor-associated factor 5 (TRAF5). (PMID: 9511754) Mizushima S. … Inoue J. (Gene 1998) 3 4 23
  3. 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
  4. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. (PMID: 11675497) Ferrari S. … Plebani A. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 23
  5. A C/T polymorphism in the 5' untranslated region of the CD40 gene is associated with later onset of Graves' disease in Japanese. (PMID: 16127217) Mukai T. … Yamada K. (Endocr. J. 2005) 3 23 48

Products for CD40 Gene

  • Addgene plasmids for CD40

Sources for CD40 Gene

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