• Gene id: 958

Gene Summary

• Gene Symbol: CD40   Gene   UCSC   Ensembl
• Aliases: Bp50, CDW40, TNFRSF5, p50
• Gene name: CD40 molecule
• Alternate names: tumor necrosis factor receptor superfamily member 5, B cell surface antigen CD40, B cell-associated molecule, CD40 molecule, TNF receptor superfamily member 5, CD40L receptor,
• Gene location: 20q13.12 (46118241: 46129857)     Exons: 9     NC_000020.11
• Gene summary(Entrez): This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immuno

SNPs

rs28606463

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.213929934C>T
NC_000002.11   g.214794658C>T|SEQ=[C/T]|GENE=SPAG16

rs16851495

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.214108287G>A
NC_000002.11   g.214973011G>A|SEQ=[G/A]|GENE=SPAG16

rs12988374

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.214410278C>T
NC_000002.11   g.215275002C>T
NM_024532.5   c.1859C>T
NM_024532.4   c.1859C>T
XM_011511823.3   c.1550C>T
XM_011511821.2   c.1577C>T
XM_011511819.2   c.1697C>T
XM_011511820.2   c.1673C>T
XM_017004897.1   c.1502C>T
NR_047659.1   n.2139C>T
XM_  

rs12988372

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.214410273C>A
NC_000002.12   g.214410273C>T
NC_000002.11   g.215274997C>A
NC_000002.11   g.215274997C>T
NM_024532.5   c.1854C>A
NM_024532.5   c.1854C>T
NM_024532.4   c.1854C>A
NM_024532.4   c.1854C>T
XM_011511823.3   c.1545C>A
XM_011511823.3   c.1545C>T
  

rs12623569

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.213930019A>C
NC_000002.11   g.214794743A>C
NM_024532.5   c.1274A>C
NM_024532.4   c.1274A>C
XM_011511823.3   c.965A>C
XM_011511816.3   c.1274A>C
XM_011511821.2   c.992A>C
XM_011511819.2   c.1112A>C
XM_011511815.2   c.1274A>C
XM_011511817.2   c.1274A>C
XM  

rs10167688

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.213489990C>A
NC_000002.11   g.214354714C>A
NM_024532.5   c.970C>A
NM_024532.4   c.970C>A
XM_011511823.3   c.661C>A
XM_011511816.3   c.970C>A
XM_011511821.2   c.688C>A
XM_011511819.2   c.808C>A
XM_011511820.2   c.970C>A
XM_011511815.2   c.970C>A
XM_01151  

Protein Summary

• Protein general information: P25942  
  • Name: Tumor necrosis factor receptor superfamily member 5 (B cell surface antigen CD40) (Bp50) (CD40L receptor) (CDw40) (CD antigen CD40)
  • Length: 277  
  • Mass: 30619
  • Tissue specificity: B-cells and in primary carcinomas.
• Sequence:

  MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCTEFTETECLPCGESEFLDTWNRET
  HCHQHKYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGF
  FSNVSSAFEKCHPWTSCETKDLVVQQAGTNKTDVVCGPQDRLRALVVIPIIFGILFAILLVLVFIKKVAKKPTNK
  APHPKQEPQEINFPDDLPGSNTAAPVQETLHGCQPVTQEDGKESRISVQERQ

• Structural information:
  • Interpro: IPR001368  IPR020435  IPR034021  
  • Prosite: PS00652 PS50050
  • CDD: cd13407
  • PDB: 1CDF 1CZZ 1D00 1FLL 1LB6 3QD6 5DMI 5DMJ 5IHL 6FAX 6PE8 6PE9
  • PDBsum: 1CDF 1CZZ 1D00 1FLL 1LB6 3QD6 5DMI 5DMJ 5IHL 6FAX 6PE8 6PE9
  • DIP: 3014
  • STRING: ENSP00000361359
• Other Databases: GeneCards:  CD40  Malacards:  CD40

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003823	antigen binding	IBA	molecular function
GO:0006954	inflammatory response	IBA	biological process
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0030890	positive regulation of B cell proliferation	IBA	biological process
GO:0032735	positive regulation of interleukin-12 production	IBA	biological process
GO:0035666	TRIF-dependent toll-like receptor signaling pathway	IBA	biological process
GO:0042113	B cell activation	IBA	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	IBA	biological process
GO:0045766	positive regulation of angiogenesis	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0048304	positive regulation of isotype switching to IgG isotypes	IBA	biological process
GO:0051023	regulation of immunoglobulin secretion	IBA	biological process
GO:0071347	cellular response to interleukin-1	IBA	biological process
GO:2000353	positive regulation of endothelial cell apoptotic process	IBA	biological process
GO:0002768	immune response-regulating cell surface receptor signaling pathway	IBA	biological process
GO:0023035	CD40 signaling pathway	IBA	biological process
GO:0034341	response to interferon-gamma	IBA	biological process
GO:0035631	CD40 receptor complex	IBA	cellular component
GO:0042832	defense response to protozoan	IBA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IBA	biological process
GO:0043536	positive regulation of blood vessel endothelial cell migration	IBA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IBA	biological process
GO:0051607	defense response to virus	IBA	biological process
GO:0071356	cellular response to tumor necrosis factor	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0050776	regulation of immune response	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0042113	B cell activation	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0006954	inflammatory response	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0033209	tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0050776	regulation of immune response	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0050776	regulation of immune response	IEA	biological process
GO:0043491	protein kinase B signaling	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0042832	defense response to protozoan	IEA	biological process
GO:0035631	CD40 receptor complex	IEA	cellular component
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0002768	immune response-regulating cell surface receptor signaling pathway	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0036018	cellular response to erythropoietin	IEA	biological process
GO:0034341	response to interferon-gamma	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0051023	regulation of immunoglobulin secretion	IEA	biological process
GO:0048304	positive regulation of isotype switching to IgG isotypes	IEA	biological process
GO:0042113	B cell activation	IEA	biological process
GO:0032735	positive regulation of interleukin-12 production	IEA	biological process
GO:0030890	positive regulation of B cell proliferation	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1901652	response to peptide	IEA	biological process
GO:0071347	cellular response to interleukin-1	IEA	biological process
GO:0043196	varicosity	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042113	B cell activation	IEA	biological process
GO:0033590	response to cobalamin	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0009986	cell surface	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003823	antigen binding	IEA	molecular function
GO:0006874	cellular calcium ion homeostasis	IMP	biological process
GO:0035631	CD40 receptor complex	ISS	cellular component
GO:0043406	positive regulation of MAP kinase activity	IMP	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0090037	positive regulation of protein kinase C signaling	IMP	biological process
GO:2000353	positive regulation of endothelial cell apoptotic process	IDA	biological process
GO:0043536	positive regulation of blood vessel endothelial cell migration	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0023035	CD40 signaling pathway	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0009986	cell surface	HDA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0030168	platelet activation	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071260	cellular response to mechanical stimulus	IEP	biological process
GO:0042100	B cell proliferation	NAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa05166	Human T-cell leukemia virus 1 infection
hsa05169	Epstein-Barr virus infection
hsa05202	Transcriptional misregulation in cancer
hsa04514	Cell adhesion molecules
hsa05322	Systemic lupus erythematosus
hsa04064	NF-kappa B signaling pathway
hsa04620	Toll-like receptor signaling pathway
hsa05145	Toxoplasmosis
hsa05416	Viral myocarditis
hsa05144	Malaria
hsa05340	Primary immunodeficiency
hsa04672	Intestinal immune network for IgA production
hsa05320	Autoimmune thyroid disease
hsa05310	Asthma
hsa05330	Allograft rejection

Diseases

Associated diseases	References
Combined immunodeficiency	KEGG:H00093
Hyper IgM syndromes, autosomal recessive type	KEGG:H00086
Combined immunodeficiency	KEGG:H00093
Hyper IgM syndromes, autosomal recessive type	KEGG:H00086
Cutaneous lupus erythematosus	PMID:18050371
Erythema multiforme	PMID:18050371
diffuse large B-cell lymphoma	PMID:20473910
follicular lymphoma	PMID:20473910
Myelodysplastic syndrome	PMID:17805323
Non-Hodgkin lymphoma	PMID:19636010
Atrial fibrillation	PMID:17392495
Pre-eclampsia	PMID:19221099
Graves' disease	PMID:18755875
Graves' disease	PMID:12593727
Cardiomyopathy	PMID:9495297
Kawasaki disease	PMID:22645426
Melanoma	PMID:17327609
Multiple sclerosis	PMID:20634952
Asthma	PMID:19220210
Asthma	PMID:19159017
Hyperimmunoglobulin syndrome	PMID:11675497
Chronic obstructive pulmonary disease	PMID:20699612
Atopic dermatitis	PMID:18693155
pancreatic ductal carcinoma	PMID:20976171
pancreatic ductal carcinoma	PMID:21436454
pancreatic ductal carcinoma	PMID:23983255
acute myocarditis	PMID:9495297
B-cell lymphoma	PMID:20616215
Rheumatoid arthritis	PMID:20498205
Arthritis	PMID:23256180
chronic myeloid leukemia	PMID:16527350
Burkitt lymphoma	PMID:9192773
Crohn's disease	PMID:20133813
Crohn's disease	PMID:20634952
Psoriasis	PMID:21645569
skin melanoma	PMID:8952530
Autoimmune thrombocytopenic purpura	PMID:17654056
Systemic lupus erythematosus	PMID:21914625
Pemphigus	PMID:21255096
Lichen planus	PMID:18050371
Plasma cell leukemia	PMID:20616215
multiple myeloma	PMID:10866315
type 1 diabetes mellitus	PMID:22505539
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray