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CD40 Gene

protein-coding   GIFtS: 70
GCID: GC20P044746

CD40 Molecule, TNF Receptor Superfamily Member 5

(Previous names: tumor necrosis factor receptor superfamily, member 5)
(Previous symbol: TNFRSF5)
  See CD40-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
CD40 Molecule, TNF Receptor Superfamily Member 51 2     B Cell-Associated Molecule2
TNFRSF51 2 3 5     CD40 Antigen (TNF Receptor Superfamily Member 5)2
Tumor Necrosis Factor Receptor Superfamily, Member 51 2     CD40 Type II Isoform2
Bp502 3     Nerve Growth Factor Receptor-Related B-Lymphocyte Activation Molecule2
B-Cell Surface Antigen CD402 3     p502
CD40L Receptor2 3     Tumor Necrosis Factor Receptor Superfamily Member 52
CDW402     CDw403
B Cell Surface Antigen CD402     CD40 Antigen3

External Ids:    HGNC: 119191   Entrez Gene: 9582   Ensembl: ENSG000001010177   OMIM: 1095355   UniProtKB: P259423   
ORGUL members:         

Export aliases for CD40 gene to outside databases

Previous GC identifers: GC20P044181 GC20P041488


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CD40 Gene:
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been found to be
essential in 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. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been
reported. (provided by RefSeq, Jul 2008)

GeneCards Summary for CD40 Gene:
CD40 (CD40 molecule, TNF receptor superfamily member 5) is a protein-coding gene. Diseases associated with CD40 include chromosome 20q deletion, and blood protein disease. GO annotations related to this gene include receptor activity and signal transducer activity. An important paralog of this gene is TNFRSF21.

UniProtKB/Swiss-Prot: TNR5_HUMAN, P25942
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 Wiki entry for CD40 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NT_011362.11  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CD40 gene promoter:
         c-Fos   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CD40 promoter sequence
   Search Chromatin IP Primers for CD40

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CD40


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q12-q13.2   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q12-q13.2

CD40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD40 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P044746:  view genomic region     (about GC identifiers)

Start:
44,746,906 bp from pter      End:
44,758,502 bp from pter
Size:
11,597 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TNR5_HUMAN, P25942 (See protein sequence)
Recommended Name: Tumor necrosis factor receptor superfamily member 5 precursor  
Size: 277 amino acids; 30619 Da
Subunit: 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
6 PDB 3D structures from and Proteopedia for CD40:
1CDF (3D)        1CZZ (3D)        1D00 (3D)        1FLL (3D)        1LB6 (3D)        3QD6 (3D)    
Secondary accessions: E1P5S9 Q53GN5 Q5JY15 Q5U007 Q7M4Q8 Q86YK5 Q9BYU0
Alternative splicing: 2 isoforms:  P25942-1   P25942-2   

Explore the universe of human proteins at neXtProt for CD40: NX_P25942

Explore proteomics data for CD40 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn153, Asn180
  • Modification sites at PhosphoSitePlus

  • See CD40 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001241.1  NP_690593.1  

    ENSEMBL proteins: 
     ENSP00000361359   ENSP00000361350   ENSP00000434825  
    Reactome Protein details: P25942

    CD40 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CD40 (CD40/TNFRSF5)
    Enzo Life Sciences proteins for CD40
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CD40
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CD40
    GenScript Purified and Recombinant Proteins for CD40
    Novus Biologicals CD40 Proteins
    Novus Biologicals CD40 Lysates
    Sino Biological Recombinant Protein for CD40
    Sino Biological Cell Lysate for CD40
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CD40 

    CD40 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CD40 (CD40/TNFRSF5)
    OriGene Antibodies for CD40
    OriGene Custom Antibody Services for CD40
    Novus Biologicals CD40 Antibodies
    Abcam antibodies for CD40
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for CD40
    LSBio Antibodies in human, mouse, rat for CD40

    CD40 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CD40
    R&D Systems ELISAs for CD40 (CD40/TNFRSF5)         (see all)
    GenScript Custom Assay Services for CD40
    Enzo Life Sciences assays for CD40
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    eBioscience ELISAs for CD40:  
                        Human sCD40 Platinum ELISA 10 x 96 tests


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    TNFRSF: Tumor necrosis factor receptor superfamily

    IUPHAR Guide to PHARMACOLOGY protein family classification: CD40
    Tumour necrosis factor (TNF) receptor family

    2 InterPro protein domains:
     IPR020435 TNFR_5
     IPR001368 TNFR/NGFR_Cys_rich_reg

    Graphical View of Domain Structure for InterPro Entry P25942

    ProtoNet protein and cluster: P25942

    2 Blocks protein domains:
    IPB001368 TNFR/CD27/30/40/95 cysteine-rich region
    IPB008063 FAS/CD95 receptor family signature


    UniProtKB/Swiss-Prot: TNR5_HUMAN, P25942
    Similarity: Contains 4 TNFR-Cys repeats


    Find genes that share domains with CD40           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TNR5_HUMAN, P25942
    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003823antigen binding IEA--
    GO:0004871signal transducer activity TAS9671306
    GO:0004872receptor activity TAS10092834
    GO:0005515protein binding IPI12140561
    GO:0019899enzyme binding IPI12223522
         
    Find genes that share ontologies with CD40           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cd40):
     hematopoietic system  homeostasis/metabolism  immune system  nervous system  normal 
     renal/urinary system  skeleton 

    Find genes that share phenotypes with CD40           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CD40: Cd40tm1Geha Cd40tm1Kik Cd40tm1Arah

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CD40
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CD40

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD40
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD40

    miRNA
    Products:
        
    miRTarBase miRNAs that target CD40:
    hsa-mir-486-5p (MIRT004620), hsa-mir-224-5p (MIRT003393)

    Block miRNA regulation of human, mouse, rat CD40 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate CD40:
    hsa-miR-30c-2* hsa-miR-30c-1* hsa-miR-575 hsa-miR-145 hsa-miR-3165 hsa-miR-3155 hsa-miR-3155b hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmidCD40 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CD40
    Predesigned siRNA for gene silencing in human, mouse, rat CD40

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CD40

    Clone
    Products:
         
    OriGene clones in human, mouse for CD40 (see all 14)
    OriGene ORF clones in mouse, rat for CD40
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CD40 (NM_152854)
    Sino Biological Human cDNA Clone for CD40
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD40
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD40
    Addgene plasmids for CD40 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CD40
    Browse ESI BIO Cell Lines and PureStem Progenitors for CD40 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD40


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TNR5_HUMAN, P25942: Isoform I: Cell membrane; Single-pass type I membrane protein
    TNR5_HUMAN, P25942: Isoform II: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    nucleus3
    endosome2
    lysosome2
    vacuole2
    cytoskeleton1
    cytosol1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS10748139

    Find genes that share ontologies with CD40           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CD40 About   (see all 21)  
    See pathways by source

    SuperPathContained pathways About
    1Allograft rejection
    Allograft rejection0.86
    Asthma0.46
    Allograft Rejection0.86
    Intestinal immune network for IgA production0.41
    Autoimmune thyroid disease0.61
    Viral myocarditis0.40
    2TNF Signaling
    TNF Signaling0.50
    TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions0.49
    Death Receptor Signaling0.50
    NF-kB (NFkB) Pathway0.46
    3Toll-like receptor signaling pathway
    Toll-like receptor signaling pathway0.94
    Regulation of toll-like receptor signaling pathway0.93
    Toll-like receptor signaling pathway0.94
    4Apoptosis and survival Anti apoptotic TNFs NF kB Bcl 2 pathway
    Apoptosis and survival Anti apoptotic TNFs NF kB Bcl 2 pathway0.46
    5PEDF Induced Signaling
    Cytokine-cytokine receptor interaction0.43


    Find genes that share SuperPaths with CD40           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for CD40
        TNF Superfamily - Human Ligand-Receptor Interactions & their Associated Functions
    A-beta Uptake & Degradation

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CD40 (see all 15)
        THC Differentiation Pathway
    STAT3 Pathway
    TRAF Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C

    1 GeneGo (Thomson Reuters) Pathway for CD40
        Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

    Selected BioSystems Pathways for CD40 (see all 7)
        NLR proteins
    Allograft Rejection
    Toll-like receptor signaling pathway
    IL-6 Signaling Pathway
    CD40/CD40L signaling

    3 Sino Biological Pathways for CD40
        TNF Signaling
    Death Receptor Signaling
    NF-kB (NFkB) Pathway

    1 Reactome Pathway for CD40
        Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell


    Selected Kegg Pathways  (Kegg details for CD40) (see all 16):
        Cytokine-cytokine receptor interaction
    NF-kappa B signaling pathway
    Cell adhesion molecules (CAMs)
    Toll-like receptor signaling pathway
    Intestinal immune network for IgA production

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CD40 (see all 21): 
              Cell Surface Markers in human mouse rat
              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Lymphoma in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CD40

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CD40 (P259421, 3 ENSP000003613594) via UniProtKB, MINT, STRING, and/or I2D (see all 91)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAF6Q9Y4K31, 3EBI-525714,EBI-359276 I2D: score=7 
    ENSG00000229802Q925043, ENSP000003917354I2D: score=2 STRING: ENSP00000391735
    SLC39A7Q925043, ENSP000003638074I2D: score=2 STRING: ENSP00000363807
    ENSG00000206288Q925043I2D: score=2 
    ENSG00000224399Q925043I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation IMP--
    GO:0002768immune response-regulating cell surface receptor signaling pathway IEA--
    GO:0006461protein complex assembly TAS10748139
    GO:0006874cellular calcium ion homeostasis IMP--
    GO:0006954inflammatory response IEA--

    Find genes that share ontologies with CD40           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CD40 (TNR5)

    1 HMDB Compound for CD40    About this table
    CompoundSynonyms CAS #PubMed Ids
    Simvastatin(+)-Simvastatin (see all 28)79902-63-9--

    1 IUPHAR Ligand for CD40 (CD40)    About this table
    LigandTypeActionAffinityPubmed IDs
    CD40 ligand
    NoneNone--

    Selected Novoseek inferred chemical compound relationships for CD40 gene (see all 116)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lfa703 69.8 4 15618295 (3), 17482516 (1)
    rantes 59.7 36 16864989 (8), 11274230 (5), 12122011 (3), 11754818 (1) (see all 18)
    blys 55.5 12 19421221 (3), 17567982 (2), 11015437 (1), 12154359 (1) (see all 6)
    ionomycin 48.9 9 1708162 (1), 16223731 (1), 9727564 (1), 7699321 (1) (see all 9)
    pdtc 47.1 3 20037166 (1), 12901869 (1), 16141529 (1)
    triazolopyrimidine 43.2 7 10600333 (5)
    sb 203580 43 5 16356505 (1), 11708812 (1), 12209089 (1), 17911635 (1)
    n-tosyl-l-phenylalanine chloromethyl ketone 37 1 10995749 (1)
    pd 98,059 36 5 16272352 (1), 16904975 (1), 19288477 (1), 10586056 (1)
    ly294002 35.9 2 15888255 (1), 18174238 (1)



    Find genes that share compounds with CD40           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CD40 gene (2 alternative transcripts): 
    NM_001250.4  NM_152854.2  

    Unigene Cluster for CD40:

    CD40 molecule, TNF receptor superfamily member 5
    Hs.472860  [show with all ESTs]
    Unigene Representative Sequence: AB209660
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372285(uc002xrf.1 uc002xrg.1 uc002xrh.1 uc002xrj.1 uc002xrk.1)
    ENST00000372276 ENST00000466205 ENST00000489304 ENST00000477696 ENST00000461171

    miRNA
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    Block miRNA regulation of human, mouse, rat CD40 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate CD40:
    hsa-miR-30c-2* hsa-miR-30c-1* hsa-miR-575 hsa-miR-145 hsa-miR-3165 hsa-miR-3155 hsa-miR-3155b hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmidCD40 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CD40
    Predesigned siRNA for gene silencing in human, mouse, rat CD40
    Clone
    Products:
         
    OriGene clones in human, mouse for CD40 (see all 14)
    OriGene ORF clones in mouse, rat for CD40
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CD40 (NM_152854)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD40
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD40
    Addgene plasmids for CD40 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CD40
    OriGene qSTAR qPCR primer pairs in human, mouse for CD40
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CD40
      QuantiTect SYBR Green Assays in human, mouse, rat CD40
      QuantiFast Probe-based Assays in human, mouse, rat CD40

    Additional mRNA sequence: 

    AB209660.1 AJ300189.1 AK222896.1 AY225405.1 BC012419.1 BC064518.1 BT019901.1 

    9 DOTS entries:

    DT.451574  DT.100791759  DT.86853137  DT.100791764  DT.92423397  DT.102104  DT.95170181  DT.40204598 
    DT.95170183 

    Selected AceView cDNA sequences (see all 119):

    BM456032 AI620202 AA934395 BM708033 AA749024 AA876065 AY225405 AA913214 
    AI791563 AI733071 BI759406 H50599 BQ548631 AA806068 AI356484 CK826276 
    BM707407 NM_001250 CA944736 AA767182 AA886208 CA305932 CR608994 NM_152854 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CD40    About this scheme

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


    ECgene alternative splicing isoforms for CD40

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CD40 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CD40 Expression
    About this image


    CD40 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 9 entries
             Monocytes Peripheral Blood
             Immunosuppressive dendritic cells
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Dermis (Integumentary System)    fully expand to see all 3 entries
             Dermal Fibroblasts Dorsal Dermis
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Zeugopod Periosteum
             Bone marrow-derived mesenchymal stem cells
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
    CD40 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD40 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.472860

    UniProtKB/Swiss-Prot: TNR5_HUMAN, P25942
    Tissue specificity: B-cells and in primary carcinomas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CD40 (see all 21): 
              Cell Surface Markers in human mouse rat
              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Lymphoma in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CD40
    OriGene qSTAR qPCR primer pairs in human, mouse for CD40
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CD40
    QuantiTect SYBR Green Assays in human, mouse, rat CD40
    QuantiFast Probe-based Assays in human, mouse, rat CD40
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD40

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for CD40 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd401 , 5 CD40 antigen1, 5 71.29(n)1
    62.77(a)1
      2 (85.38 cM)5
    219391  NM_011611.21  NP_035741.21 
     1650556275 
    chicken
    (Gallus gallus)
    Aves CD401 CD40 molecule, TNF receptor superfamily member 5 52.58(n)
    42.64(a)
      395385  NM_204665.2  NP_989996.1 
    lizard
    (Anolis carolinensis)
    Reptilia CD406
    CD40 molecule, TNF receptor superfamily member 5
    37(a)
    1 ↔ 1
    GL343871.1(80493-94195)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cd401 CD40 molecule, TNF receptor superfamily member 5 47.77(n)
    39.46(a)
      100270675  NM_001145216.1  NP_001138688.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cd406
    CD40 antigen
    25(a)
    many ↔ many
    23(37916785-37929019) ENSDARG00000054968


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for CD40 gene
    TNFRSF212  TNFRSF11A2  TNFRSF6B2  LTBR2  TNFRSF11B2  TNFRSF142  TNFRSF1B2  
    3 SIMAP similar genes for CD40 using alignment to 3 protein entries:     TNR5_HUMAN (see all proteins):
    TNFRSF11A    TNFRSF1B    TNFR1B

    Find genes that share paralogs with CD40           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for CD40 (see all 351)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289315861,2,,4
    CImmunodeficiency with hyper-IgM 3 (HIGM3)4 pathogenic144721508(+) AATACC/TGCGAC 4 R C mis1 ese30--------
    VAR_0393024
    Bladder carcinoma cell line Hu5494--see VAR_0393022 S G mis40--------
    VAR_0393014
    Bladder carcinoma cell line Hu5494--see VAR_0393012 C Q mis40--------
    VAR_0393034
    Bladder carcinoma cell line Hu5494--see VAR_0393032 S T mis40--------
    rs1171553251,2
    F--44715482(+) GTGAGG/ATCTGG 2 -- us2k11Minor allele frequency- A:0.01NA 120
    rs1464637011,2
    --44715658(+) GAGTGC/TTAACA 2 -- us2k10--------
    rs1841378741,2
    --44715916(+) GAGCCG/TAGATC 2 -- us2k10--------
    rs1148092601,2
    F--44715976(+) AACCCA/CAAAAC 2 -- us2k11Minor allele frequency- C:0.08WA 118
    rs1899009391,2
    --44716005(+) CCAAAA/GAACAA 2 -- us2k10--------
    rs731150051,2
    C,F--44716413(+) CTCAAG/CCAATC 2 -- us2k11Minor allele frequency- C:0.04WA 118
    rs48129981,2
    C,A--44716415(+) caagcA/Gatctc 2 -- us2k1 tfbs36Minor allele frequency- G:0.20NA WA EA 364
    rs1408788921,2
    --44716430(+) TTTGGA/CCTTCC 2 -- us2k10--------
    rs60326661,2
    C--44716464(+) GCCACC/TGCGCC 2 -- us2k15Minor allele frequency- T:0.21WA CSA NA EA 361
    rs1122793121,2
    F--44716486(+) TTTATT/CTTTAT 2 -- us2k12Minor allele frequency- C:0.15CSA WA 119
    rs2002893281,2
    --44716506(+) TTATT-/TATTTTT 2 -- us2k10--------
    rs1997480581,2
    --44716507(+) TATTT-/ATTTTT 2 -- us2k10--------
    rs719768151,2
    C--44716508(+) ATTTA-/T/TT  
            
    TTTTT
    2 -- us2k11CSA 2
    rs1500892991,2
    C--44716508(+) ATTTA-/TTTTTT 2 -- us2k10--------
    rs2013024301,2
    C--44716511(+) TATTTA/TTTTTT 2 -- us2k10--------
    rs340983861,2
    C--44716520(+) TTTTT-/T/TT  
            
    GAGAC
    2 -- us2k11NA 2
    rs1434252651,2
    C--44716612(+) ATTCTC/TCTGCC 2 -- us2k10--------
    rs1811713711,2
    --44716768(+) AAAGTG/TCTGGA 2 -- us2k10--------
    rs18006861,2
    C,F,O,A,H--44716921(+) CACACG/AAGGGA 2 -- us2k1 tfbs320Minor allele frequency- A:0.23EA NA NS WA 1470
    rs1402910971,2
    C--44716939(+) TTGAA-/AGAG  
            
    AGCGA
    2 -- us2k10--------
    rs1156625341,2
    F--44716971(+) TCTTCC/TTTGAA 2 -- us2k11Minor allele frequency- T:0.09WA 118
    rs130377241,2
    C,H--44717083(+) CAGGAT/AACCTA 2 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs130417891,2
    H--44717238(+) AAGAAG/AAAGAG 2 -- us2k1 trp34Minor allele frequency- A:0.00NS EA 420
    rs7521181,2
    C,F,O,A,H--44717256(+) TGGGAC/TCATGC 2 -- us2k133Minor allele frequency- N:0.00NS NA MN EA CSA WA 3620
    rs1840753841,2
    C--44717321(+) TGGGAA/CTGTTC 2 -- us2k10--------
    rs115692991,2
    C,H--44717376(+) CGATAA/C/GGTGGA 2 -- us2k15NS EA 598
    rs115693001,2
    C,F--44717432(+) AAGGCT/-GGGGC 2 -- ut512Minor allele frequency- -:0.02NS NA 214
    rs115693011,2
    C,F,H--44717460(+) CCTCGC/TTCGGG 2 -- ut51 ese39Minor allele frequency- T:0.05NS EA NA WA 722
    rs1403994161,2
    C--44717498(+) ACCTCA/GCTATG 2 -- ut510--------
    rs18838321,2
    C,F,O,A,H--44717500(+) CTCGCC/TATGGT 2 -- ut5142Minor allele frequency- T:0.21NS EA NA MN WA CSA EU 9974
    rs1132071931,2
    C,F--44717522(+) TGCAGT/GGCGTC 4 /G /C mis12Minor allele frequency- G:0.00CSA NA 4554
    rs2008733051,2
    --44717588(+) TTGGGA/GGTGGG 2 -- int10--------
    rs2001782591,2
    --44717594(+) GTGGGG/TAATGA 2 -- int10--------
    rs7453071,2
    C,F,A,H--44717604(-) CCTTTC/TCTTCT 2 -- int1 trp318Minor allele frequency- T:0.12NS EA NA WA 2438
    rs115693021,2
    C,F,H--44717622(+) GACTTC/TGGGGA 2 -- int114Minor allele frequency- T:0.07NS EA NA WA 1756
    rs115693031,2
    H--44717733(+) CTCCCG/AGGCTG 2 -- int12Minor allele frequency- A:0.01NS 280
    rs3768317291,2
    C--44717746(+) GTCCCA/GGGAGC 2 -- int10--------
    rs115693041,2
    C,F,H--44717828(+) AGCCTC/AAGAGG 2 -- int113Minor allele frequency- A:0.12NS EA WA 1158
    rs2018287951,2
    C--44718168(+) GACCCC/TTGGGG 2 -- int10--------
    rs115693061,2
    H--44718344(+) CTTGAC/GTCACT 2 -- int15Minor allele frequency- G:0.00NS EA 572
    rs1891955201,2
    --44718445(+) CCCCTA/GCTTTA 2 -- int10--------
    rs48104851,2
    C,F,A,H--44718467(+) ATTCCG/TGCCTG 2 -- int141Minor allele frequency- T:0.22NS EA NA WA CSA 3715
    rs1815530801,2
    --44718569(+) CTTTCA/TCTTTC 2 -- int10--------
    rs15350451,2
    C,F,A,H--44718619(+) GAGGGA/C/TGGAGC 2 -- int112EA NA NS 1056
    rs731150071,2
    --44718643(+) AGGGGA/GGCCCT 2 -- int10--------
    rs115693071,2
    C,F,H--44718691(+) TGAAGG/AGTGTG 2 -- int112Minor allele frequency- A:0.01NS EA WA 1168
    rs751302791,2
    F--44718774(+) ACAACA/GATGTC 2 -- int11Minor allele frequency- G:0.01WA 118
    rs115693081,2
    C,F--44718811(+) TGTGTC/GAGGCT 2 -- int19Minor allele frequency- G:0.06NS CSA WA 760
    rs115693091,2
    C,F,H--44719070(+) GGAGAT/CTGACA 2 -- int119Minor allele frequency- C:0.08NS EA NA WA 1756
    rs1865969651,2
    C--44719182(+) TTGCAA/GTGAGC 2 -- int10--------
    rs1918085571,2
    --44719410(+) CTGACA/GCTGTG 2 -- int10--------
    rs61044721,2
    H--44719419(+) tgctaG/Agccat 2 -- int14Minor allele frequency- A:0.00NS EA 412
    rs1809523761,2
    --44719457(+) ATCCAA/TCCTGC 2 -- int10--------
    rs1858253051,2
    --44719465(+) TGCAGC/GGCAGG 2 -- int10--------
    rs61044731,2
    H--44719547(+) agtcaG/Agactg 2 -- int14Minor allele frequency- A:0.00NS EA 412
    rs48129991,2
    C,F,A,H--44719603(+) CTGTTC/TCCAAA 2 -- int15Minor allele frequency- T:0.01NS EA 562
    rs42397021,2
    C,F,A,H--44719771(+) aaaaaC/Tcaaga 2 -- int130Minor allele frequency- T:0.25NS EA WA NA CSA 2885
    rs1503645601,2
    --44719781(+) AGCAGG/TCCTGG 2 -- int10--------
    rs747712561,2
    F--44719787(+) CCTGGG/CAGGGC 2 -- int11Minor allele frequency- C:0.05WA 118
    rs115693131,2
    C,F--44720155(+) GGAGAT/CAGAGG 2 -- int11Minor allele frequency- C:0.01NS 180
    rs1133407031,2
    C,F--44720211(+) GGAGCG/AAGACT 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs60326681,2
    C,F--44720237(+) aaataA/CaaGTA 2 -- int12Minor allele frequency- C:0.03NS WA 298
    rs1877920071,2
    --44720265(+) TAATTA/GATAGC 2 -- int10--------
    rs115693141,2
    C,F,H--44720354(+) CTCATT/CTGGAC 2 -- int15Minor allele frequency- C:0.02NS EA 592
    rs20925661,2
    H--44720434(+) AAAGTG/TTGAGT 2 -- int14Minor allele frequency- T:0.00NS EA 418
    rs117003231,2
    C,F,A,H--44720644(+) CAGGGG/AAGCTG 2 -- int11Minor allele frequency- A:0.50NA 4
    rs116984681,2
    C,F,A,H--44720645(+) AGGGGT/AGCTGC 2 -- int11Minor allele frequency- A:0.50NA 4
    rs1930316471,2
    --44720751(+) TACAGC/TACCAT 2 -- int10--------
    rs1489201241,2
    --44720836(+) AACATA/GCCAAA 2 -- int10--------
    rs1845625321,2
    --44720862(+) ACTTTC/GTGTTT 2 -- int10--------
    rs115693151,2
    C,F,H--44720944(+) GATTTC/TAAGAT 2 -- int113Minor allele frequency- T:0.02NS EA NA WA 1488
    rs615088701,2
    C--44720960(+) CAAATA/TGCACA 2 -- int10--------
    rs1876834231,2
    C--44720964(+) TTGCAC/TAATTC 2 -- int11Minor allele frequency- T:0.00EU 1301
    rs1476778861,2
    C,F--44721000(+) CCACTG/TCATGC 4 A S mis11Minor allele frequency- T:0.00NA 4552
    rs115693161,2
    H--44721287(+) GACTTT/CCATCT 2 -- int15Minor allele frequency- C:0.00NS EA 580
    rs1926576121,2
    --44721300(+) GAATCC/TCCTAC 2 -- int10--------
    rs1843100631,2
    --44721306(+) CCTACA/CCTAAA 2 -- int10--------
    rs115693171,2
    C,F,H--44721370(+) CCTCCC/GTCATT 2 -- int115Minor allele frequency- G:0.05NS EA NA WA EU 2671
    rs1157245431,2
    C--44721432(+) GAAACG/AGAATG 4 /T syn11Minor allele frequency- A:0.01WA 118
    rs2022087451,2
    --44721456(+) GAAAGA/CGAATT 4 R S mis10--------
    rs171774931,2
    C,F,H--44721495(+) TGCCAC/ACAGCA 4 /Q /H mis1 ese38Minor allele frequency- A:0.01EA NS NA 622
    rs1886530971,2
    C--44721553(+) GGAACC/TGGGCT 2 -- int10--------
    rs617600511,2
    C--44721560(+) GGCTGA/GTATTC 2 -- int11Minor allele frequency- G:0.00EU 1285
    rs2010890321,2
    C--44721567(+) ATTCCC/GGACAA 2 -- int11Minor allele frequency- G:0.00EU 1257
    rs1843872921,2
    --44721572(+) CGACAA/GTGCAG 2 -- int10--------
    rs1384196601,2
    --44721574(+) ACAATA/GCAGCC 2 -- int10--------
    rs115693191,2
    C,F,H--44721626(+) AGTCCG/AGGCTG 2 -- int19Minor allele frequency- A:0.03NS EA NA WA 990
    rs1907082311,2
    --44721631(+) GGGCTA/GTACTG 2 -- int10--------
    rs1995881401,2
    C,F--44721737(+) CAGGGG/AGTTCC 2 -- int11Minor allele frequency- A:0.00EU 1123
    rs115693211,2,,4
    C,F,H--44721883(+) CCGCTC/TATGCT 4 S L mis1 ese320Minor allele frequency- T:0.05NS EA NA WA EU 7805
    rs116991001,2
    C,F,H--44721935(+) TGGGAA/GTCAGT 2 -- int110Minor allele frequency- G:0.03NS EA NA EU 1405
    rs1439130141,2
    --44722038(+) TATGTC/TGGTAT 2 -- int10--------
    rs115693221,2
    C,F--44722165(+) ACCACA/TTCGGG 2 -- int13Minor allele frequency- T:0.02NS NA 284
    rs1473012041,2
    --44722167(+) CACATC/TGGGGG 2 -- int10--------
    rs3764081541,2
    C--44722226(+) GCCTTA/GTGAGC 2 -- int10--------
    rs796615851,2
    C,F--44722355(+) GCTTTA/C/TGAAAA 6 L F mis1 syn12NA 4552
    rs1483385201,2
    --44722557(+) TTTTGC/TCTGCT 2 -- int10--------
    rs1819906301,2
    --44722606(+) CATGAA/GAGCCT 2 -- int10--------
    rs1415878721,2
    C--44722676(+) CTCAGA/TTTTCC 2 -- int10--------
    rs1872845111,2
    --44722684(+) TCCTCA/GTCTTG 2 -- int10--------
    rs1508948081,2
    --44722733(+) TGGGTA/GCTCAC 2 -- int10--------
    rs115693231,2
    C,F,H--44722824(+) TACTGT/CCTCCA 2 -- int127Minor allele frequency- C:0.15NS EA NA WA CSA 2954
    rs787551721,2
    C,F--44722829(+) TCTCCA/GCTGTT 2 -- int11Minor allele frequency- G:0.01WA 118
    rs1394010121,2
    --44722859(+) CATCAC/GTGTGG 2 -- int10--------
    rs1446219141,2
    C--44722905(+) CCTCT-/GGTCTC 2 -- int10--------
    rs1893124631,2
    --44722951(+) AACATG/TAGCGT 2 -- int10--------
    rs1808078081,2
    --44723019(+) GTTGGA/GACTAA 2 -- int10--------
    rs1147433721,2
    C,F--44723186(+) GGCGCG/AGTGGC 2 -- int11Minor allele frequency- A:0.01WA 118
    rs1854813991,2
    --44723207(+) AATCTA/CAGCAC 2 -- int10--------
    rs1173862161,2
    F--44723520(+) GATAGG/ACACAT 2 -- int11Minor allele frequency- A:0.01EA 120
    rs1116244311,2
    C--44723721(+) AGGAGTATA    
       CCA
    /-
    GTATA
    2 -- int11Minor allele frequency- -:0.00CSA 2
    rs731150101,2
    C,F--44723758(+) TTCCCT/CAATAG 2 -- int12Minor allele frequency- C:0.29NA EA 240
    rs1899439881,2
    --44723870(+) TTTTTA/CCTGAT 2 -- int10--------
    rs1494645631,2
    --44723888(+) GACTGA/TTAACT 2 -- int10--------
    rs1493080691,2
    --44723909(+) CTGGT-/ATAG  
            
    TTTTT
    2 -- int10--------
    rs666767451,2
    C--44723923(+) TTTTTG/TTTTTT 2 -- int11Minor allele frequency- T:0.00NA 2
    rs668152211,2
    C--44724048(+) TTGAGG/ACAGAG 2 -- int11Minor allele frequency- A:0.00NA 2
    rs736226511,2
    C--44724129(+) TCACGC/TCATTC 2 -- int10--------
    rs1866330241,2
    --44724228(+) TTCACC/TGTGTT 2 -- int10--------
    rs115693241,2
    C--44724229(+) TCACCG/ATGTTA 2 -- int11Minor allele frequency- A:0.01NS 142
    rs1432297531,2
    --44724292(+) AAAGTG/TCTGGG 2 -- int10--------
    rs733107481,2
    C,F--44724360(+) TGCATT/AGGCTT 2 -- int11Minor allele frequency- A:0.50WA 2
    rs1917398281,2
    --44724367(+) GCTTAC/TGTATC 2 -- int10--------
    rs115693251,2
    C,F,H--44724432(+) AAAAAT/CGGGAA 2 -- int111Minor allele frequency- C:0.10NS EA WA 1580
    rs1484489211,2
    --44724435(+) AATGGA/GAATGA 2 -- int10--------
    rs115693261,2
    C,F--44724692(+) CCAGCT/AACTCA 2 -- int11Minor allele frequency- A:0.01NS 170
    rs1840303081,2
    --44724776(+) TCCAGC/TCAGTC 2 -- int10--------
    rs114693161,2
    C--44724817(+) AAAAA-/A/A   
      AAAAAA
    AAAAA
    2 -- int11NA 2
    rs1510193281,2
    C--44724843(+) AGTACA/GTGGTT 2 -- int10--------
    rs1890072561,2
    --44724952(+) AGGTCC/TTCATC 2 -- int10--------
    rs1408720841,2
    --44725127(+) GTGATC/GTGGTT 2 -- int10--------
    rs115693271,2
    H--44725149(+) ATTTTC/TCATAG 2 -- int15Minor allele frequency- T:0.00NS EA 570
    rs115693281,2
    C,F--44725182(+) CCACCT/CGCCTT 2 -- int12Minor allele frequency- C:0.02NS WA 170
    rs1925008031,2
    --44725225(+) GACTGC/TACTGC 2 -- int10--------
    rs1821111911,2
    --44725300(+) AAGAAC/TCTTAA 2 -- int10--------
    rs1476566141,2
    C--44725386(+) ACAAAC/TGGAGA 2 -- int10--------
    rs60740281,2
    C,F,A--44725479(+) CCCACA/GCCCCC 2 -- int14Minor allele frequency- G:0.18NS NA EA 420
    rs115693291,2
    C,F,H--44725533(+) AGTAAC/TCCTAT 2 -- int16Minor allele frequency- T:0.02NS EA NA 718
    rs1130019431,2
    --44725636(+) AAAGCC/TTGGCA 2 -- int10--------
    rs37468211,2
    C,F,H--44725732(+) GTGTCG/TTTCCT 2 -- int145Minor allele frequency- T:0.22EA NS NA MN WA 6088
    rs61310181,2
    H--44725733(+) TGTCGT/GTCCTA 2 -- int14Minor allele frequency- G:0.00NS EA 402
    rs60326691,2
    H--44725736(+) CGTTCC/TTATAA 2 -- int14Minor allele frequency- T:0.00NS EA 420
    rs1424349981,2
    C--44725755(+) ATAGGA/GCGTTG 2 -- int10--------
    rs2004965431,2
    --44725881(+) ATTTGC/TGCACG 2 -- int10--------
    rs412827881,2
    C,F--44725997(+) GCCTAG/CGAAGG 2 -- int12Minor allele frequency- C:0.03NA 168
    rs1389007021,2
    --44726058(+) GGGGAC/GGGGAG 2 -- int10--------
    rs784676381,2
    F--44726101(+) ACTTAT/CCTTGG 2 -- int11Minor allele frequency- C:0.04EA 120
    rs1494124801,2
    --44726229(+) AAAGAC/TCAGAT 2 -- int10--------
    rs1138272601,2
    C,F--44726262(+) CAGGGG/TTAAGA 2 -- int11Minor allele frequency- T:0.03NA 120
    rs115693301,2
    H--44726441(+) TTTTTC/ATCAAA 2 -- int15Minor allele frequency- A:0.00NS EA 592
    rs115693311,2
    C,F--44726480(+) CTAGAA/GTGAGG 2 -- int13Minor allele frequency- G:0.05NS CSA WA 300
    rs115693321,2
    C,F--44726506(+) CCCTCG/AGGCGC 2 -- int11Minor allele frequency- A:0.01NS 180
    rs1846253711,2
    --44726509(+) TCGGGC/TGCAAT 2 -- int10--------
    rs115693331,2
    C,F,H--44726510(+) CGGGCG/ACAATA 2 -- int120Minor allele frequency- A:0.07NS EA NA 2716
    rs1437506061,2
    C--44726606(+) ATCCAC/TGATGA 2 -- int10--------
    rs61044771,2
    H--44726720(+) gaataG/Agcagc 2 -- int14Minor allele frequency- A:0.00NS EA 402
    rs61044781,2
    H--44726735(+) ctgcaG/Agccgt 2 -- int12Minor allele frequency- A:0.00EA NS 178
    rs1481789411,2
    --44726824(+) TTGGAA/CATCCT 2 -- int10--------
    rs115693341,2
    C,F,H--44726884(+) CGCCCT/CGCCTT 2 -- int110Minor allele frequency- C:0.03NS EA NA WA 812
    rs772676311,2
    C,F--44726944(+) AATACT/ATTACC 2 -- int11Minor allele frequency- A:0.03EA 120
    rs1430490811,2
    --44726959(+) CCCTCC/TACTCT 2 -- int10--------
    rs1459426941,2
    --44726967(+) TCTTCC/TATACC 2 -- int10--------
    rs733107511,2
    C,F--44727028(+) AGCAGG/AGAGTG 2 -- int11Minor allele frequency- A:0.50WA 2
    rs115693351,2
    F,H--44727071(+) ACTGCC/TACCAC 2 -- int15Minor allele frequency- T:0.00NS EA 596
    rs1162984911,2
    C,F--44727137(+) AGTTTG/ATAAGA 2 -- int11Minor allele frequency- A:0.03WA 118
    rs1153214011,2
    F--44727143(+) TAAGAG/TAAATC 2 -- int11Minor allele frequency- T:0.01WA 118
    rs1116715751,2
    F--44727152(+) TCAGAT/AGTCTA 2 -- int12Minor allele frequency- A:0.50CSA 6
    rs1901062271,2
    --44727279(+) TTGAAA/CCTTCT 2 -- int10--------
    rs115693361,2
    H--44727297(+) ATGAGC/ATCTGA 2 -- int1 ese35Minor allele frequency- A:0.00NS EA 594
    rs1930804131,2
    C--44727363(+) TGCAGA/GTGAGG 2 -- int10--------
    rs72736981,2
    C,F,H--44727444(+) ATCTTC/TGGGAT 4 R W F mis1 syn120Minor allele frequency- T:0.05NS EA NA WA EU 7935
    rs1430379751,2
    C--44727448(+) TCGGGA/GTCCTG 4 D G I V mis11Minor allele frequency- G:0.00NA 4552
    rs1995813551,2
    C--44727460(+) TTGCCA/GTCCTC 4 H R I V mis10--------
    rs115693371,2
    C,F--44727511(+) TGTTGG/TGGGAG 2 -- int1 trp38Minor allele frequency- T:0.04NS WA 770
    rs37654561,2
    C,F--44727512(+) GTTGGG/AGGAGG 2 -- int1 trp36Minor allele frequency- A:0.16NS NA WA EA 574
    rs115693381,2
    C--44727524(+) AGGGGA/TGACCA 2 -- int1 trp31Minor allele frequency- T:0.01NS 176
    rs48130001,2
    C,F--44727529(+) AGACCA/CCCTGT 2 -- int12Minor allele frequency- C:0.03NS NA 296
    rs115693391,2
    C--44727563(+) CCCATC/TCTTTT 2 -- int1 trp31Minor allele frequency- T:0.01NS 176
    rs757368561,2
    C--44727588(+) TTTTTA/TGAAAA 2 -- spa10--------
    rs787821291,2
    C,F--44727589(+) TTTTAG/AAAAAG 2 -- spa11Minor allele frequency- A:0.02EU 243
    rs733107541,2
    C--44727639(+) GAACCC/TGGGAC 2 -- int11Minor allele frequency- T:0.50WA 2
    rs1507367771,2
    --44727676(+) CCTCAC/TGGTTG 2 -- int10--------
    rs115693401,2
    C,H--44727735(+) GGTGGC/TAGCAG 2 -- int15Minor allele frequency- T:0.00NS EA 590
    rs1499386571,2
    --44727743(+) CAGAAC/TTGGGG 2 -- int10--------
    rs115693411,2
    C--44727748(+) TTGGGG/AACTGT 2 -- int11Minor allele frequency- A:0.01NS 174
    rs758923941,2
    F--44727779(+) CTTCCA/TTCCAG 2 -- int11Minor allele frequency- T:0.03EA 120
    rs37654571,2
    C,F,H--44727834(+) CTAACA/GCTGGC 2 -- int127Minor allele frequency- G:0.07EA NS NA CSA WA EU 5153
    rs115693421,2
    C,F,H--44727910(+) TCAAAT/GGGGTG 2 -- int16Minor allele frequency- G:0.00NS EA WA 568
    rs37654581,2
    C,F--44727972(+) TTCGTC/TGCCCT 2 -- int12Minor allele frequency- T:0.06EA 1416
    rs37654591,2
    C,F,H--44728028(+) GACCCG/ACCGTC 2 -- int115Minor allele frequency- A:0.25EA NS NA CSA 2468
    rs116973491,2
    C,F,H--44728096(+) AGGCAC/TAGCTG 2 -- int12Minor allele frequency- T:0.06NA EU 325
    rs73521141,2
    H--44728122(+) GTGACC/TTCACA 2 -- int14Minor allele frequency- T:0.00NS EA 418
    rs110869981,2,,4
    C,F,H--44728145(+) AGGCCC/GCCCAC 3 P A ut31 mis1 ese311Minor allele frequency- G:0.01NS NA EU 5945
    rs1483422891,2
    C,F--44728147(+) GCCCCC/TCACCC 3 P ut31 syn11Minor allele frequency- T:0.00NA 4530
    rs1444661311,2
    C,F--44728183(+) TTTCCC/TGACGA 3 P ut31 syn11Minor allele frequency- T:0.00NA 4546
    rs1476729041,2
    C--44728186(+) CCCGAC/TGATCT 3 D ut31 syn10--------
    rs115693431,2
    C,F,H--44728435(+) GCACCC/GCTGCA 2 -- ut31 ese38Minor allele frequency- G:0.02NS EA NA CSA 717
    rs412827901,2
    F--44728611(+) CGATCC/TAGCAG 2 -- ut310--------
    rs115693441,2
    C,F--44728616(+) CAGCAG/CTTTGG 2 -- ut31 ese33Minor allele frequency- C:0.05NS CSA WA 300
    rs1174904881,2
    F--44728672(+) TATACA/CCAGAT 2 -- ut311Minor allele frequency- C:0.01NA 120
    rs1849421631,2
    --44728847(+) TTTTTA/TAAAAA 2 -- ut310--------
    rs60942531,2
    C,H--44728880(+) ATTGCC/TTATGG 2 -- ut31 ese34Minor allele frequency- T:0.00NS EA 364
    rs1174364571,2
    F--44729102(+) AAAATC/GATCAA 2 -- ds50011Minor allele frequency- G:0.01NA 120
    rs801881541,2
    F--44729125(+) AAAAAC/TGGGGG 2 -- ds50011Minor allele frequency- T:0.01WA 118
    rs115693451,2
    C,F,H--44729142(+) TGCTGG/AGTGAC 2 -- ds50016Minor allele frequency- A:0.02NS EA NA 700
    rs1423240051,2
    --44729250(+) CATGTA/GTGCTC 2 -- ds50010--------
    rs1886260231,2
    --44729411(+) CAGCGC/GTGTCT 2 -- ds50010--------
    rs1998826941,2
    C--44745647(+) TTTTT-/TGAGAT 2 -- us2k10--------
    rs114801501,2
    C--44747651(+) CCCCT-/GGGGGA 2 -- int10--------
    rs562709591,2
    C--44747716(+) TCTGA-/CCAGGG 2 -- int10--------
    rs1135560991,2
    C,F--44749557(+) AAATTG/AGCCGG 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1125303341,2
    C,F--44749561(+) TAGCCG/AGGCAT 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs114717181,2
    C--44753206(+) TATAC-/CA    
       TATAC
    ATTTT
    2 -- int10--------
    rs1118915011,2
    ----44723913(+) TATAG-/TTTTTTTTT
    TTTTTTTTTTTT
    TTTTT
    4 -- int1 cds11Minor allele frequency- TTTTTTTTTTTTTTTTTTTTT:0.00CSA 2
    rs3730716021,2
    ----44722954(+) ATGAGC/TGTTCG 2 -- int10--------
    rs604753261,2
    ----44724830(+) AAAAA-/AAGACTA 2 -- int10--------
    rs3689211671,2
    ----44722293(+) CAGGGG/TTTCTG 4 V F mis10--------
    rs3699019911,2
    ----44721761(+) CTTCTC/TTTCTC 2 -- int10--------
    rs344750651,2
    ----44717081(+) GCCAGG/TATACC 2 -- us2k10--------
    rs61044751,2
    ----44724733(+) tgggaA/Ggtgga 2 -- int10--------
    rs3741475491,2
    ----44718156(+) GATGAA/CTAGGA 2 -- int10--------
    rs115693181,2
    ----44721625(+) GAGTCC/TGGGCT 2 -- int11Minor allele frequency- T:0.01NS 168
    rs3719973671,2
    ----44721913(+) GCAGAC/TTGGTA 4 T I mis10--------
    rs3716918871,2
    ----44727588(+) TTTTA-/TTGAAAA 2 -- spa10--------
    rs3745724041,2
    ----44725933(+) CAGGCA/GGGCAC 3 A int1 syn10--------
    rs1115902131,2
    ----44728103(+) GCTGCA/CCCTGC 2 -- int10--------
    rs760257111,2
    ----44716179(+) TTTTTG/TGAGAT 2 -- us2k11Minor allele frequency- T:0.50NA 2
    rs3713539811,2
    ----44727606(+) AAGAAA/GCAACC 4 T A K mis1 syn10--------
    rs1508901391,2
    ----44728246(+) CAACCG/AGTCAC 3 /P ut31 syn11Minor allele frequency- A:0.00NA 4552
    rs3718656761,2
    ----44726408(+) AATTTA/TAAAAA 2 -- int10--------
    rs3705998811,2
    ----44728977(+) GTGACA/GTCTGG 2 -- ut310--------
    rs60177391,2
    ----44723227(+) caaggA/Cgggtg 2 -- int10--------
    rs115693201,2
    ----44721695(+) AGAGCA/CGGCAA 2 -- int11Minor allele frequency- C:0.01NS 164
    rs114786181,2
    ----44721472(+) ACACC-/TGGAAC 4 G W fra10--------
    rs2020599351,2
    ----44716512(+) ATTTTA/TTTTTT 2 -- us2k10--------
    rs3696938421,2
    ----44728243(+) TGCCAA/GCCGGT 3 Q ut31 syn10--------
    rs3764487961,2
    ----44721746(+) CCCATC/TCTTCC 2 -- int10--------
    rs768197901,2
    ----44724045(+) TTTTTG/TAGACA 2 -- int11Minor allele frequency- T:0.50NA 2
    rs3743205941,2
    ----44721114(+) GCAGAC/TGCAGA 2 -- int10--------
    rs412827921,2
    ----44728913(+) CATCAC/TATATT 2 -- ut310--------
    rs3772855211,2
    ----44717468(+) GGGCGC/TCCAGT 2 -- ut510--------
    rs1422587781,2
    ----44721465(+) TTCCTA/GGACAC 4 L syn11Minor allele frequency- G:0.00NA 4552
    rs3686141251,2
    ----44727637(+) GAGAAC/TCCGGG 2 -- int10--------
    rs106673151,2
    ----44727587(+) ttttt-/TTAGAAA 2 -- spa1 spl30--------
    rs3738003751,2
    ----44725348(+) TGGAAC/TGTTTG 2 -- int10--------
    rs1137779611,2
    ----44721323(+) CCTGAC/TCATTG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs2001958171,2
    ----44727870(+) CAACGC/GGTGGG 2 -- int11Minor allele frequency- G:0.00EU 543
    rs61044741,2
    ----44724157(+) gagtaA/Gctggg 2 -- int10--------
    rs3712824111,2
    ----44728566(+) GGTGGG/TGGTGT 2 -- ut310--------
    rs60740261,2
    ----44716621(+) cctcaG/Tcctcc 2 -- us2k10--------
    rs3774990661,2
    ----44721958(+) CAGAGA/GAGCTT 2 -- int10--------
    rs3695467621,2
    ----44728497(+) ACCTCC/TACTTC 2 -- ut310--------
    rs1503123411,2
    ----44721890(+) TGCTCG/TCCCGG 4 S syn11Minor allele frequency- A:0.00NA 4552
    rs3688621511,2
    ----44725866(+) TCTCTC/GGTGTG 2 -- int10--------
    rs3697785881,2
    ----44724127(+) GTTCAC/TCCATT 2 -- int10--------
    rs3758839351,2
    ----44723722(+) TAGGA-/TA    
       TACCA
    ATACA
    2 -- int10--------
    rs60326671,2
    ----44716617(+) cctgcC/Ttcagc 2 -- us2k10--------
    rs3700038011,2
    ----44725885(+) GTGCAC/TGTGTC 2 -- int10--------
    rs788421581,2
    ----44722556(+) TTTTTG/TCCTGC 2 -- int11Minor allele frequency- T:0.50NA 2
    rs1119179671,2
    ----44717352(+) GAATTG/TCTGGG 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1120554731,2
    ----44721255(+) CCATCC/TTCCTC 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs115693121,2
    ----44720080(+) TTAGCC/TGGGCA 2 -- int11Minor allele frequency- T:0.01NS 180
    rs3727216421,2
    ----44722683(+) TTCCTC/TGTCTT 2 -- int10--------
    rs60177401,2
    ----44723578(+) TGCCCC/TTTAGG 2 -- int10--------
    rs3743360211,2
    ----44721351(+) TCATGC/GAGTTG 2 -- int10--------
    rs3731673651,2
    ----44717464(+) GCTCGC/GGCGCC 2 -- ut510--------
    rs3719507591,2
    ----44721468(+) CTAGAA/CACCTG 4 E D mis10--------
    rs3760811721,2
    ----44719730(+) GTTAAC/TCCTCT 2 -- int10--------
    rs18012931,2
    ----44721902(+) TTTGGG/TGTCAA 4 G syn10--------
    rs3698897881,2
    ----44721543(+) GGGACA/GCTTGG 2 -- int10--------
    rs3768292851,2
    ----44721500(+) CCAGCA/GCAAAT 4 H R mis10--------
    rs3736535551,2
    ----44722310(+) ATCTGC/TGAGCC 4 C syn10--------
    rs599363471,2
    ----44724154(+) CCTGAA/GTAGCT 2 -- int10--------
    rs3771252271,2
    ----44716371(+) GGGGGA/TTTGCC 2 -- us2k10--------
    rs1126240611,2
    ----44716747(+) ATCTGC/TCCGCC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CD40 (44746906 - 44758502 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CD40:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833993CNV Gain17160897
    dgv1329e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): CD40
    Locus Specific Mutation Databases (LSDB): CD40

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CD40
    DNA2.0 Custom Variant and Variant Library Synthesis for CD40

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 109535   
    OMIM disorders: 606843  
    UniProtKB/Swiss-Prot: TNR5_HUMAN, P25942
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for CD40 (see all 21):    
    About MalaCards
    chromosome 20q deletion    blood protein disease    cd40 deficiency    amphetamine abuse
    x-linked hyper igm syndrome    plasma cell leukemia    frozen shoulder    monocytic leukemia
    cervical squamous cell carcinoma    critical limb ischemia    autoimmune thrombocytopenic purpura    limb ischemia
    acute monocytic leukemia    graves' disease    macroglobulinemia    primary immunodeficiency disease
    biotin deficiency    waldenstrom macroglobulinemia    lupus nephritis    plasmodium vivax malaria

    12 diseases from the University of Copenhagen DISEASES database for CD40:
    Lymphoma     Hypersensitivity reaction type II disease     Primary immunodeficiency disease     Leukemia
    Atherosclerosis     Connective tissue disease     Multiple sclerosis     Multiple myeloma
    Blood protein disease     Rheumatoid arthritis     Tetanus     Hyperthyroidism

    Find genes that share disorders with CD40           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CD40 gene (see all 93)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyper-igm syndrome 80.7 23 9058789 (3), 14752331 (2), 11358428 (2), 10559240 (1) (see all 14)
    higm3 77.3 3 15661021 (1), 14610488 (1), 12893749 (1)
    necrosis 74.5 256 9511754 (3), 14517219 (2), 10096561 (2), 10318845 (2) (see all 99)
    tumors 61.1 374 8623911 (6), 11304696 (6), 10980464 (5), 10473114 (4) (see all 99)
    m syndrome 59 2 15661021 (1), 8914765 (1)
    inflammation 56.9 68 11488834 (2), 19183933 (2), 12209092 (2), 19834879 (2) (see all 52)
    autoimmune diseases 49.4 15 9617563 (1), 17114447 (1), 12223069 (1), 19421221 (1) (see all 12)
    atherosclerosis 48 21 17967972 (2), 15921025 (1), 16904975 (1), 19896127 (1) (see all 19)
    lymphocytic leukemia chronic b-cell 44.7 7 1281692 (2), 11313271 (1), 11426465 (1), 9531577 (1) (see all 6)
    lymphoma 43.3 52 7530508 (3), 7541711 (3), 11825564 (3), 9137085 (2) (see all 30)

    Genetic Association Database (GAD): CD40
    Human Genome Epidemiology (HuGE) Navigator: CD40 (89 documents)

    Export disorders for CD40 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CD40 gene, integrated from 10 sources (see all 1602):
    (articles sorted by number of sources associating them with CD40)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CD40-tumor necrosis factor receptor-associated factor (TRAF) interactions: regulation of CD40 signaling through multiple TRAF binding sites and TRAF hetero-oligomerization. (PubMed id 9718306)1, 2, 9 Pullen S.S....Kehry M.R. (Biochemistry 1998)
    2. Association analysis of CD40 polymorphisms with asthma and the level of serum total IgE. (PubMed id 17255560)1, 4, 9 Park J.H....Shin H.D. (Am. J. Respir. Crit. Care Med. 2007)
    3. Allelic variants of CD40 and CD40L genes interact to promote antibiotic-induced cutaneous allergic reactions. (PubMed id 19735272)1, 4, 9 Kim S.H....Park H.W. (Clin. Exp. Allergy 2009)
    4. Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemph