Human Gene CD40 (ENST00000372285.8_7) from GENCODE V47lift37
  Description: CD40 molecule, transcript variant 7 (from RefSeq NR_136327.2)
Gencode Transcript: ENST00000372285.8_7
Gencode Gene: ENSG00000101017.15_13
Transcript (Including UTRs)
   Position: hg19 chr20:44,746,953-44,758,497 Size: 11,545 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr20:44,746,983-44,757,679 Size: 10,697 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:44,746,953-44,758,497)mRNA (may differ from genome)Protein (277 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TNR5_HUMAN
DESCRIPTION: RecName: Full=Tumor necrosis factor receptor superfamily member 5; AltName: Full=B-cell surface antigen CD40; AltName: Full=Bp50; AltName: Full=CD40L receptor; AltName: Full=CDw40; AltName: CD_antigen=CD40; Flags: Precursor;
FUNCTION: Receptor for TNFSF5/CD40LG.
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.
INTERACTION: Q13114:TRAF3; NbExp=3; IntAct=EBI-525714, EBI-357631; Q9Y4K3:TRAF6; NbExp=2; IntAct=EBI-525714, EBI-359276;
SUBCELLULAR LOCATION: Isoform I: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform II: Secreted.
TISSUE SPECIFICITY: B-cells and in primary carcinomas.
DISEASE: Defects in CD40 are the cause of immunodeficiency with hyper-IgM type 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.
SIMILARITY: Contains 4 TNFR-Cys repeats.
WEB RESOURCE: Name=CD40base; Note=CD40 mutation db; URL="http://bioinf.uta.fi/CD40base/";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CD40";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tnfrsf5/";
WEB RESOURCE: Name=Wikipedia; Note=CD40 entry; URL="http://en.wikipedia.org/wiki/CD40";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CD40
Diseases sorted by gene-association score: immunodeficiency with hyper-igm, type 3* (1677), cd40 ligand deficiency (17), acute myocarditis (12), immunodeficiency, x-linked, with hyper-igm (12), myocarditis (10), hyperimmunoglobulin syndrome (10), multiple sclerosis, disease progression, modifier of (10), immunodeficiency with hyper-igm, type 4 (9), burkitt lymphoma (8), waldenstrom macroglobulinemia (8), graves' disease (8), primary immunodeficiency disease (7), follicular lymphoma (7), common variable immunodeficiency (6), penicilliosis (6), hashimoto thyroiditis (6), systemic lupus erythematosus (6), common wart (6), ocular hyperemia (6), letterer-siwe disease (6), lymphoma, malt, somatic (5), toxoplasmosis (5), bare lymphocyte syndrome, type i (5), autoimmune disease of endocrine system (5), gnathomiasis (5), b cell deficiency (4), mature b-cell neoplasm (4), immunodeficiency with hyper-igm, type 2 (4), chronic lymphocytic leukemia (4), malaria (4), b-cell lymphomas (4), small intestine lymphoma (4), exanthema subitum (4), arteriosclerosis (3), alzheimer disease (3), lymphoma, non-hodgkin (2), mantle cell lymphoma (2), hypersensitivity reaction type ii disease (2), asthma (2), combined t cell and b cell immunodeficiency (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 104.60 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 509.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.6030-0.187 Picture PostScript Text
3' UTR -261.00818-0.319 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001368 - TNFR/NGFR_Cys_rich_reg
IPR020435 - TNFR_5

Pfam Domains:
PF00020 - TNFR/NGFR cysteine-rich region

SCOP Domains:
57586 - TNF receptor-like
57184 - Growth factor receptor domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1CDF - Model 1CZZ - X-ray MuPIT 1D00 - X-ray MuPIT 1FLL - X-ray MuPIT 1LB6 - X-ray MuPIT 3QD6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P25942
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003823 antigen binding
GO:0004871 signal transducer activity
GO:0005031 tumor necrosis factor-activated receptor activity
GO:0005515 protein binding
GO:0019899 enzyme binding
GO:0019904 protein domain specific binding
GO:0031625 ubiquitin protein ligase binding
GO:0038023 signaling receptor activity

Biological Process:
GO:0001934 positive regulation of protein phosphorylation
GO:0002376 immune system process
GO:0002768 immune response-regulating cell surface receptor signaling pathway
GO:0006874 cellular calcium ion homeostasis
GO:0006954 inflammatory response
GO:0006955 immune response
GO:0007275 multicellular organism development
GO:0009617 response to bacterium
GO:0030168 platelet activation
GO:0030890 positive regulation of B cell proliferation
GO:0031667 response to nutrient levels
GO:0032496 response to lipopolysaccharide
GO:0032735 positive regulation of interleukin-12 production
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0033590 response to cobalamin
GO:0034341 response to interferon-gamma
GO:0036018 cellular response to erythropoietin
GO:0042100 B cell proliferation
GO:0042113 B cell activation
GO:0042127 regulation of cell proliferation
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein
GO:0042832 defense response to protozoan
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043406 positive regulation of MAP kinase activity
GO:0043491 protein kinase B signaling
GO:0043536 positive regulation of blood vessel endothelial cell migration
GO:0043547 positive regulation of GTPase activity
GO:0045766 positive regulation of angiogenesis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048304 positive regulation of isotype switching to IgG isotypes
GO:0050776 regulation of immune response
GO:0051023 regulation of immunoglobulin secretion
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0051607 defense response to virus
GO:0065003 macromolecular complex assembly
GO:0071222 cellular response to lipopolysaccharide
GO:0071260 cellular response to mechanical stimulus
GO:0071347 cellular response to interleukin-1
GO:0071356 cellular response to tumor necrosis factor
GO:0090037 positive regulation of protein kinase C signaling
GO:0097190 apoptotic signaling pathway
GO:1901652 response to peptide
GO:2000353 positive regulation of endothelial cell apoptotic process

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0035631 CD40 receptor complex
GO:0043025 neuronal cell body
GO:0043196 varicosity
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC064518 - Homo sapiens CD40 molecule, TNF receptor superfamily member 5, mRNA (cDNA clone MGC:74540 IMAGE:5227115), complete cds.
BC012419 - Homo sapiens CD40 molecule, TNF receptor superfamily member 5, mRNA (cDNA clone MGC:9013 IMAGE:3856903), complete cds.
X60592 - Human CDw40 mRNA for nerve growth factor receptor-related B-lymphocyte activation molecule.
AK222896 - Homo sapiens mRNA for tumor necrosis factor receptor superfamily, member 5 isoform 1 precursor variant, clone: HRC00913.
AJ300189 - Homo sapiens mRNA for CD40 type II isoform (CD40 gene).
AB209660 - Homo sapiens mRNA for CD40 antigen isoform 2 precursor variant protein.
AB590222 - Synthetic construct DNA, clone: pFN21AE1419, Homo sapiens CD40 gene for CD40 molecule, TNF receptor superfamily member 5, without stop codon, in Flexi system.
AY225405 - Homo sapiens tumor necrosis factor receptor superfamily member 5 (TNFRSF5) mRNA, partial cds.
KU177966 - Homo sapiens CD40 molecule TNF receptor superfamily member 5 isoform 1 (CD40) mRNA, partial cds.
KU177967 - Homo sapiens CD40 molecule TNF receptor superfamily member 5 isoform 3 (CD40) mRNA, partial cds, alternatively spliced.
BT019901 - Homo sapiens tumor necrosis factor receptor superfamily, member 5 mRNA, complete cds.
DQ891804 - Synthetic construct clone IMAGE:100004434; FLH180106.01X; RZPDo839F12132D CD40 molecule, TNF receptor superfamily member 5 (CD40) gene, encodes complete protein.
DQ894988 - Synthetic construct Homo sapiens clone IMAGE:100009448; FLH180102.01L; RZPDo839F12131D CD40 molecule, TNF receptor superfamily member 5 (CD40) gene, encodes complete protein.
AX781593 - Sequence 1 from Patent WO03049759.
KJ890865 - Synthetic construct Homo sapiens clone ccsbBroadEn_00259 CD40 gene, encodes complete protein.
KR709383 - Synthetic construct Homo sapiens clone CCSBHm_00001622 CD40 (CD40) mRNA, encodes complete protein.
AB529120 - Synthetic construct DNA, clone: pF1KB4897, Homo sapiens CD40 gene for CD40 molecule, TNF receptor superfamily member 5, without stop codon, in Flexi system.
JD359388 - Sequence 340412 from Patent EP1572962.
JD173359 - Sequence 154383 from Patent EP1572962.
JD164175 - Sequence 145199 from Patent EP1572962.
JD471592 - Sequence 452616 from Patent EP1572962.
JD178755 - Sequence 159779 from Patent EP1572962.
JD064322 - Sequence 45346 from Patent EP1572962.
JD442078 - Sequence 423102 from Patent EP1572962.
JD303560 - Sequence 284584 from Patent EP1572962.
JD442329 - Sequence 423353 from Patent EP1572962.
JD466001 - Sequence 447025 from Patent EP1572962.
JD416036 - Sequence 397060 from Patent EP1572962.
JD081883 - Sequence 62907 from Patent EP1572962.
JD558218 - Sequence 539242 from Patent EP1572962.
JD265966 - Sequence 246990 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_asbcellPathway - Antigen Dependent B Cell Activation
h_th1th2Pathway - Th1/Th2 Differentiation
h_dcPathway - Dendritic cells in regulating TH1 and TH2 Development
h_bbcellPathway - Bystander B Cell Activation
h_cd40Pathway - CD40L Signaling Pathway
h_blymphocytePathway - B Lymphocyte Cell Surface Molecules

Reactome (by CSHL, EBI, and GO)

Protein P25942 (Reactome details) participates in the following event(s):

R-HSA-199404 CD40L binds CD40
R-HSA-5676597 TRAF2:TRAF1:cIAP1,2:TRAF3:NIK regulatory complex binds CD40
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-5676594 TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
R-HSA-1280218 Adaptive Immune System
R-HSA-5668541 TNFR2 non-canonical NF-kB pathway
R-HSA-168256 Immune System
R-HSA-1280215 Cytokine Signaling in Immune system

-  Other Names for This Gene
  Alternate Gene Symbols: E1P5S9, ENST00000372285.1, ENST00000372285.2, ENST00000372285.3, ENST00000372285.4, ENST00000372285.5, ENST00000372285.6, ENST00000372285.7, NR_136327, P25942, Q53GN5, Q5JY15, Q5U007, Q7M4Q8, Q86YK5, Q9BYU0, TNFRSF5, TNR5_HUMAN, uc318juf.1, uc318juf.2
UCSC ID: ENST00000372285.8_7
RefSeq Accession: NM_001250.6
Protein: P25942 (aka TNR5_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.