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CD40 Gene

protein-coding   GIFtS: 66

GC20P044181
CD40 molecule, TNF receptor superfamily member 5
(Previous names: tumor necrosis factor receptor superfamily, member 5 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: TNFRSF5)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
Bp50 1, 2, 3
CDW40 2
CDw40 3
MGC9013 2
OTTHUMP00000031699 2
OTTHUMP00000031700 2
TNFRSF5 2, 3, 5
p50 1, 2
Descriptions
B cell surface antigen CD40 2
B cell-associated molecule 2
B-cell surface antigen CD40 3
CD40 antigen 2, 3
CD40 antigen (TNF receptor superfamily member 5) 2
CD40 molecule, TNF receptor superfamily member 5 2
CD40 type II isoform 2
CD40L receptor 2, 3
nerve growth factor receptor-related B-lymphocyte
activation molecule 2
tumor necrosis factor receptor superfamily, member 5 1, 2
External Ids
HGNC: 119191
Entrez Gene: 9582
UniProtKB: P259423
Ensembl: ENSG000001010177
Search outside databases for aliases for CD40 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CD40:
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]

UniProtKB/Swiss-Prot: TNR5_HUMAN, P25942
Function: Receptor for TNFSF5/CD40LG

Gene Wiki entry for CD40

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the CD40 gene  

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)

GeneLoc gene densities for chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P044181:     (about GC identifiers)

Start:
44,180,313 bp from pter
End:
44,195,894 bp from pter
Size:
15,582 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000020.9  NT_011362.9  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

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
Subcellular location: Isoform I: Cell membrane; Single-pass type I membrane protein
Subcellular location: Isoform II: Secreted
PDB structures from and Proteopedia :
1CDF (3D)    1CZZ (3D)    1D00 (3D)    1FLL (3D)    1LB6 (3D)    
Secondary accessions: Q53GN5 Q5JY15 Q5U007 Q7M4Q8 Q86YK5 Q9BYU0
Alternative splicing: 2 isoforms:  P25942-1   P25942-2   (Additional isoforms seem to exist)

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000279061 ENSP00000361359 ENSP00000361350 ENSP00000361352 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    R&D Systems Recombinant & Natural Proteins for CD40 (CD40/TNFRSF5)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (CD40)
    Human Recombinant Proteins from Abnova (CD40)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005886 plasma membrane TAS10748139
    GO:0005887 integral to plasma membrane TAS10748139
    About this table

    Antibodies for CD40: 
    Invitrogen Antibodies for CD40
    Millipore Mono- and Polyclonal Antibodies for the study of CD40
    Sigma-Aldrich Antibody Arrays and Antibodies for CD40
    R&D Systems Antibodies for CD40 (CD40/TNFRSF5)
    Antibodies from Abcam (CD40), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (CD40)
    Novus Biologicals Antibodies for CD40

    Assays for CD40: 
    Invitrogen Assays for CD40
    Millipore Kits and Assays for the Analysis of CD40
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR001368 TNFR_Cys_rich_reg
     IPR008063 Fas_rcpt


       GeneDecks  CD40 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P25942

    ProtoNet protein and cluster: P25942

    2 Blocks protein families:
    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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CD40)
    Millipore RNAi Products for the Analysis of CD40 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (CD40)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001250

                  Applied Biosystems Silencer® siRNAs for CD40

                  Sigma-Aldrich siRNA and siRNA Panels for CD40  
                         Sigma-Aldrich shRNA Panels and shRNA for CD40  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for CD40
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001250
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001250
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001250 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001250

    UniProtKB/Swiss-Prot: TNR5_HUMAN, P25942
    Function: Receptor for TNFSF5/CD40LG

    4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cd40):

    hematopoietic systemhomeostasis/metabolismimmune systemrenal/urinary system

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888 transmembrane receptor activity IEA--
    GO:0019899 enzyme binding IPI12223522
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    2 Invitrogen iPath™ Online BioAtlas - Pathways for CD40 (Maps provided by GeneGo):
     Ceramide-dependent NO antiapoptotic action
     Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

       GeneDecks  CD40 for the pathways selected above  
    About GeneDecksing

    1 Millipore Pathway for CD40
     Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway

       GeneDecks  CD40 for the pathways selected above  
    About GeneDecksing

    5/12 Sigma-Aldrich "Your Favorite Gene" Pathways for  CD40  (Your Favorite Gene powered by Ingenuity) (see all 12
     IL-12 Signaling and Production in Macrophages
     Primary Immunodeficiency Signaling
     TREM1 Signaling
     Autoimmune Thyroid Disease Signaling
     Hepatic Fibrosis / Hepatic Stellate Cell Activation

       GeneDecks  CD40 for the pathways selected above  
    About GeneDecksing

    5/8 Kegg Pathways  (Kegg details for CD40) (see all 8 ):
     hsa04060 Cytokine-cytokine receptor interaction
     hsa04514 Cell adhesion molecules (CAMs)
     hsa04620 Toll-like receptor signaling pathway
     hsa05310 Asthma
     hsa05320 Autoimmune thyroid disease

       GeneDecks  CD40 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  CD40 


    5/216 Interacting proteins for CD40 (P259421 ENSP000002790613) via UniProtKB, MINT, and/or STRING (see all 216 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAF3Q131141, ENSP000003324683EBI-525714, EBI-357631 STRING (score=.999)
    TRAF6Q9Y4K31, ENSP000003378533EBI-525714, EBI-359276 STRING (score=.999)
    TRAF2Q5T1L51, ENSP000003526853EBI-525714, EBI-1046651 STRING (score=.917)
    HLA-CENSP000003654123STRING (score=.702) STRING (score=.722)
    CALRP277971EBI-525714, EBI-1049597
    About this table

    5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461 protein complex assembly TAS10748139
    GO:0006915 apoptosis IEA--
    GO:0006954 inflammatory response TAS2475341
    GO:0006955 immune response IEA--
    GO:0007165 signal transduction IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for CD40
    10/53 Novoseek chemical compound relationships for CD40 gene (see all 53 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    lfa703 70.42 4 15618295 (3), 17482516 (1)
    rantes 60.35 35 16864989 (8), 11274230 (5), 12122011 (3), 11754818 (1) (see all 17)
    blys 53.73 8 17567982 (2), 11015437 (1), 12154359 (1), 16644731 (1) (see all 5)
    ionomycin 49.89 9 1708162 (1), 16223731 (1), 9727564 (1), 7699321 (1) (see all 9)
    triazolopyrimidine 46.50 7 10600333 (5)
    pd 98,059 34.11 5 16272352 (1), 16904975 (1), 19288477 (1), 10586056 (1)
    cytidine 31.42 7 14752331 (1), 14978013 (1), 17154264 (1), 17485519 (1) (see all 5)
    mevalonate 28.03 1 12426205 (1)
    bcma 26.30 2 12865416 (1), 15708970 (1)
    tyrosine 23.99 32 12437073 (3), 7523475 (2), 8816388 (2), 9133417 (2) (see all 20)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CD40)
    Millipore RNAi Products for the Analysis of CD40 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (CD40)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001250

                  Sigma-Aldrich siRNA and siRNA Panels for CD40  
                         Sigma-Aldrich shRNA Panels and shRNA for CD40  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001250  NM_152854  

    REFSEQ mRNAs for CD40 gene (2 alternative transcripts): 

    NM_001250.4   NM_152854.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001250  NM_152854  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001250
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001250
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001250 

    Additional cDNA sequence: 

    AB209660.1 AJ300189.1 AK222896.1 AY225405.1 BC012419.1 BC064518.1 BT019901.1 CR605787.1 
    CR608994.1 CR619622.1 

    9 DOTS entries:

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

    24/119 AceView cDNA sequences (see all 119 ):

    CA417566 BQ548631 AI674469 AI733071 H50599 AI356484 BM456032 AI267899 
    AA767182 AA749024 AA913214 AA886208 BC012419 BM707407 CR605787 BM708033 
    AA934395 BI759406 NM_152854 AA876065 CA944736 CR608994 BM477258 AI791563 

    highest scoring ESTs for CD40:

    AA147464 AA706580 AA749024 AI457714 AI865431 BC012419 BC064518 BE879861 BF869012 BI759406 

    Unigene Cluster for CD40:

    CD40 molecule, TNF receptor superfamily member 5
    Hs.472860  [show with all ESTs]
    Unigene Representative Sequence: AB209660


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for CD40

    4 Ensembl transcripts including schematic representations:
    ENST00000279061  ENST00000372285  ENST00000372276  ENST00000372278  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    CD40 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for CD40

    1 / 2 / 3

    10 probe-sets matching CD40 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    35150_at2, 3 U133-A 1 1.00 1.00 0.88 1.17 X60592 0.80 1.00 0.91 1
    35149_at2, 3 U95-A 1 0.75 1.00 0.99 0.84 AI865431 0.80 1.00 0.91 1

    205153_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001250 0.60 1.00 0.82 1

    35150_at2, 3 U133-A 1 1.00 1.00 -- -- X60592 0.80 1.00 0.91 1

    222292_at2, 3 U133-A 1 1.00 1.00 -- -- AW298127 0.40 1.00 0.76 1

    215346_at2, 3 U133-A 1 1.00 1.00 -- -- BF664114 0.40 1.00 0.76 1

    205153_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    35150_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    222292_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    215346_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  CD40 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.472860

    Expression variation in blood from EXPOLDB for CD40

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for CD40 gene from 5 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    CD401   -- CD40 molecule, TNF receptor superfamily member 5 79.34(n)
    71.59(a)
    403469  NM_001002982.1  NP_001002982.1 
    cow
    (Bos taurus)
    CD401   -- CD40 molecule, TNF receptor superfamily member 5 76.77(n)
    68.23(a)
    286849  XM_581509.3  XP_581509.2 
    rat
    (Rattus norvegicus)
    Cd401   -- CD40 molecule, TNF receptor superfamily member 5 70.56(n)
    60.58(a)
    171369  NM_134360.1  NP_599187.1 
    mouse
    (Mus musculus)
    Cd401, 5 2 (97.00 cM)5
    CD40 antigen1, 5 71.29(n)1
    62.77(a)1
    219391  NM_011611.21  NP_035741.21 
     AI3269365  AI3854825  (see all 30)
    chicken
    (Gallus gallus)
    CD401   -- CD40 molecule, TNF receptor superfamily member 5 52.58(n)
    42.64(a)
    395385  NM_204665.1  NP_989996.1 
    About this table        Species with no ortholog for CD40

    ENSEMBL Gene Tree for CD40
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for CD40 gene
    TNFRSF11A2  NGFR2  LTBR2  TNFRSF42  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/141 NCBI SNPs in CD40 are shown (see all 141 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 99)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 20 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs7521181,2
    A,C,F,H,O44180145(+) TGGGAC/TCATGC 2 -- ng5122Minor allele frequency- N:0.00NS NA MN EA EU WA 2116
    rs18006861,2
    A,C,F,H,O44179810(+) CACACG/AAGGGA 2 -- ng51 tfbs312Minor allele frequency- A:0.23EA NA EU WA 764
    rs18838321,2
    A,C,F,H,O44180389(+) CTCGCC/TATGGT 2 -- ut5111Minor allele frequency- T:0.26EU EA WA NS NA MN 1142
    rs115693431,2
    C,F,H44191221(+) GCACCC/GCTGCA 2 -- ut31 ese39Minor allele frequency- G:0.03NS EU EA WA 1014
    rs72736981,2
    C,F,H44190230(+) ATCTTC/TGGGAT 2 R/W F/F mis1 syn110Minor allele frequency- T:0.04NS EU EA WA NA 1062
    rs115693211,2
    C,F,H44184770(+) CCGCTC/TATGCT 2 S/L mis1 ese310Minor allele frequency- T:0.04NS EU EA WA NA 1046
    --
    rs115693001,2
    C,F44180321(+) AAGGCT/-GGGGC 2 -- ut512Minor allele frequency- -:0.02NS NA 214
    rs110869981,2
    C,F44190931(+) AGGCCC/GCCCAC 2 P/A mis1 ut31 ese37Minor allele frequency- G:0.02NS 634
    rs115693451,2
    F,H44191928(+) TGCTGG/AGTGAC 2 -- ng315Minor allele frequency- A:0.01NS EU EA WA 580
    rs115693011,2
    F,H44180349(+) CCTCGC/TTCGGG 2 -- ut51 ese35Minor allele frequency- T:0.04NS EU EA WA 598
    About this table

    HapMap Linkage Disequilibrium images for CD40 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 109535   disorders: 606843  

    UniProtKB/Swiss-Prot: TNR5_HUMAN, P25942

  • Defects in CD40 are the cause of hyper-IgM immunodeficiency type 3 (HIGM3) [MIM:606843].
    HIGM3 is an autosomal recessive disorder which includes an inability of B cells to undergo isotype
    switching, one of the final differentiation steps in the humoral immune system, an inability to
    mount an antibody-specific immune response, and a lack of germinal center formation
  • 10/93 Novoseek disease relationships for CD40 gene (see all 93 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyper-igm syndrome 80.16 23 9058789 (3), 14752331 (2), 11358428 (2), 10559240 (1) (see all 14)
    higm3 77.77 3 15661021 (1), 14610488 (1), 12893749 (1)
    necrosis 74.41 233 9511754 (3), 14517219 (2), 10096561 (2), 10318845 (2) (see all 99)
    tumors 60.87 333 8623911 (6), 11304696 (6), 10980464 (5), 10473114 (4) (see all 99)
    m syndrome 60.16 2 15661021 (1), 8914765 (1)
    inflammation 54.41 62 11488834 (2), 19183933 (2), 12209092 (2), 12759449 (2) (see all 47)
    atherosclerosis 45.89 18 17967972 (2), 15921025 (1), 16904975 (1), 15280513 (1) (see all 16)
    autoimmune diseases 45.33 13 9617563 (1), 17114447 (1), 12223069 (1), 11905840 (1) (see all 10)
    latent virus infection 43.99 1 11278268 (1)
    atherosclerotic plaque 42.48 9 10049948 (2), 9244201 (2), 10623647 (1), 16356505 (1) (see all 7)
    About this table

    Human Gene Mutation Database: CD40
    Genetic Association Database: CD40
    Human Genome Epidemiology Navigator: CD40 (42 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

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

    10/1321 PubMed articles for CD40 gene (see all 1321 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 958 HGNC: 11919 AceView: TNFRSF5 Ensembl:ENSG00000101017 euGenes: HUgn958
    ECgene: CD40 H-InvDB: CD40
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for CD40 Genetics and Cytogenetics in Oncology and Haematology
    CD40basehttp://bioinf.uta.fi/CD40base/
    GeneReviewshttp://www.genetests.org/query?gene=CD40
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tnfrsf5/
    Wikipedia http://en.wikipedia.org/wiki/CD40
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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