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Gene id

958

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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: 46129744) 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 immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]

OMIM

109535

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: 30,619

Tissue specificity: B-cells and in primary carcinomas.

Sequence

MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCTEFTETECLPCGESEFLDTWNRET
HCHQHKYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGF
FSNVSSAFEKCHPWTSCETKDLVVQQAGTNKTDVVCGPQDRLRALVVIPIIFGILFAILLVLVFIKKVAKKPTNK
APHPKQEPQEINFPDDLPGSNTAAPVQETLHGCQPVTQEDGKESRISVQERQ

Structural information

Interpro:	IPR001368 IPR020435 IPR034021
Prosite:	PS00652 PS50050
Pfam:	PF00020
CDD:	cd13407
PDB:	1CDF 1CZZ 1D00 1FLL 1LB6 3QD6 5DMI 5DMJ 5IHL
PDBsum:	1CDF 1CZZ 1D00 1FLL 1LB6 3QD6 5DMI 5DMJ 5IHL
DIP:	3014
MINT:	1505936
STRING:	ENSP00000361359;

Other Databases

GeneCards: CD40; Malacards: CD40

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001934	positive regulation of pr otein phosphorylation	IMP	biological_process
GO:0002768	immune response-regulatin g cell surface receptor s ignaling pathway	IEA	biological_process
GO:0003823	antigen binding	IEA	molecular_function
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004872	receptor activity	TAS	molecular_function
GO:0005031	tumor necrosis factor-act ivated receptor activity	IBA	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:0005615	extracellular space	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005886	plasma membrane	ISS	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:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006461	protein complex assembly	TAS	biological_process
GO:0006874	cellular calcium ion home ostasis	IMP	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0007275	multicellular organism de velopment	IBA	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0019899	enzyme binding	IPI	molecular_function
GO:0030168	platelet activation	NAS	biological_process
GO:0030890	positive regulation of B cell proliferation	IEA	biological_process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0032496	response to lipopolysacch aride	IBA	biological_process
GO:0032735	positive regulation of in terleukin-12 production	IEA	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0035631	CD40 receptor complex	ISS	cellular_component
GO:0042100	B cell proliferation	NAS	biological_process
GO:0042127	regulation of cell prolif eration	IBA	biological_process
GO:0042511	positive regulation of ty rosine phosphorylation of Stat1 protein	IMP	biological_process
GO:0042832	defense response to proto zoan	IEA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEP	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IEA	cellular_component
GO:0043406	positive regulation of MA P kinase activity	IMP	biological_process
GO:0043491	protein kinase B signalin g	IEA	biological_process
GO:0043547	positive regulation of GT Pase activity	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0048304	positive regulation of is otype switching to IgG is otypes	IEA	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0051023	regulation of immunoglobu lin secretion	IEA	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IMP	biological_process
GO:0051607	defense response to virus	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071222	cellular response to lipo polysaccharide	IEA	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0090037	positive regulation of pr otein kinase C signaling	IMP	biological_process
GO:0097190	apoptotic signaling pathw ay	IBA	biological_process
GO:2000353	positive regulation of en dothelial cell apoptotic process	IDA	biological_process
GO:0001934	positive regulation of pr otein phosphorylation	IMP	biological_process
GO:0002376	immune system process	IEA	biological_process
GO:0002768	immune response-regulatin g cell surface receptor s ignaling pathway	IEA	biological_process
GO:0003823	antigen binding	IEA	molecular_function
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004872	receptor activity	TAS	molecular_function
GO:0005031	tumor necrosis factor-act ivated receptor activity	IBA	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:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	ISS	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	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:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006461	protein complex assembly	TAS	biological_process
GO:0006874	cellular calcium ion home ostasis	IEA	biological_process
GO:0006874	cellular calcium ion home ostasis	IMP	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0006954	inflammatory response	TAS	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0007275	multicellular organism de velopment	IBA	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009986	cell surface	IEA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0019899	enzyme binding	IPI	molecular_function
GO:0030168	platelet activation	NAS	biological_process
GO:0030890	positive regulation of B cell proliferation	IEA	biological_process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0032496	response to lipopolysacch aride	IBA	biological_process
GO:0032735	positive regulation of in terleukin-12 production	IEA	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0035631	CD40 receptor complex	IEA	cellular_component
GO:0035631	CD40 receptor complex	ISS	cellular_component
GO:0042100	B cell proliferation	NAS	biological_process
GO:0042113	B cell activation	IEA	biological_process
GO:0042127	regulation of cell prolif eration	IBA	biological_process
GO:0042511	positive regulation of ty rosine phosphorylation of Stat1 protein	IMP	biological_process
GO:0042832	defense response to proto zoan	IEA	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEP	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IEA	cellular_component
GO:0043406	positive regulation of MA P kinase activity	IMP	biological_process
GO:0043491	protein kinase B signalin g	IEA	biological_process
GO:0043547	positive regulation of GT Pase activity	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0048304	positive regulation of is otype switching to IgG is otypes	IEA	biological_process
GO:0050776	regulation of immune resp onse	IEA	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0051023	regulation of immunoglobu lin secretion	IEA	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IMP	biological_process
GO:0051607	defense response to virus	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071222	cellular response to lipo polysaccharide	IEA	biological_process
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0090037	positive regulation of pr otein kinase C signaling	IMP	biological_process
GO:0097190	apoptotic signaling pathw ay	IBA	biological_process
GO:2000353	positive regulation of en dothelial cell apoptotic process	IDA	biological_process
GO:0001934	positive regulation of pr otein phosphorylation	IMP	biological_process
GO:0004871	signal transducer activit y	TAS	molecular_function
GO:0004872	receptor activity	TAS	molecular_function
GO:0005031	tumor necrosis factor-act ivated receptor activity	IBA	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:0005886	plasma membrane	ISS	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:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006461	protein complex assembly	TAS	biological_process
GO:0006874	cellular calcium ion home ostasis	IMP	biological_process
GO:0006954	inflammatory response	TAS	biological_process
GO:0006955	immune response	IBA	biological_process
GO:0007275	multicellular organism de velopment	IBA	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0019899	enzyme binding	IPI	molecular_function
GO:0030168	platelet activation	NAS	biological_process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0032496	response to lipopolysacch aride	IBA	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0033209	tumor necrosis factor-med iated signaling pathway	TAS	biological_process
GO:0035631	CD40 receptor complex	ISS	cellular_component
GO:0042100	B cell proliferation	NAS	biological_process
GO:0042127	regulation of cell prolif eration	IBA	biological_process
GO:0042511	positive regulation of ty rosine phosphorylation of Stat1 protein	IMP	biological_process
GO:0043123	positive regulation of I- kappaB kinase/NF-kappaB s ignaling	IEP	biological_process
GO:0043406	positive regulation of MA P kinase activity	IMP	biological_process
GO:0043547	positive regulation of GT Pase activity	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IMP	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071260	cellular response to mech anical stimulus	IEP	biological_process
GO:0090037	positive regulation of pr otein kinase C signaling	IMP	biological_process
GO:0097190	apoptotic signaling pathw ay	IBA	biological_process
GO:2000353	positive regulation of en dothelial cell apoptotic process	IDA	biological_process

KEGG pathways

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

Diseases

Associated diseases	References
Agammaglobulinemias	KEGG: H00085
Asthma	PMID: 17255560
Autoimmune thyroid disease (AITD)	PMID: 16756465
Cancer	PMID: 18287517
Combined immunodeficiencies	KEGG: H00093
Diabetes	PMID: 17553307
Endometriosis	PMID: 21508908
Wegener's granulomatosis	GAD20049410
Rheumatoid arthritis	GAD18794853
Apoplexy	GAD20504251
Acute coronary syndrome	GAD20552594
Acute coronary syndrome	GAD20137882
Precursor Cell Lymphoblastic Leukemia-Lymphoma	GAD20716621
Pemphigus	GAD19421221
Myeloma	GAD20568250
Multiple sclerosis	GAD17026470
Mucocutaneous Lymph Node Syndrome	GAD22446962
Lymphoma	GAD18636124
Lung cancer	GAD18676680
Graves disease	PMID: 16127217
Hodgkin Disease	GAD20473910
Hodgkin Disease	GAD19573080
Acute coronary syndrome	GAD19246174
Acute coronary syndrome	GAD19099972
Graves disease	GAD16127217
Giant Cell Arteritis	GAD20682661
Endometriosis	GAD20797713
Diabetes	GAD15047636
Chronic renal failure	GAD21085059
Chronic obstructive pulmonary disease (COPD)	GAD20650312
Chronic obstructive pulmonary disease (COPD)	GAD19625176
Chronic obstructive pulmonary disease (COPD)	GAD19622350
Bronchiolitis	GAD20503287
Acute coronary syndrome	GAD17553307
Bladder cancer	GAD19692168
Atherosclerosis	GAD16504636
Asthma	GAD17255560
Immunodeficiency	OMIM606843
Kawasaki disease	PMID: 15367912
Endometriosis	PubMed27488034
Combined immunodeficiencies	KEGGH00093
Hyper IgM syndromes, autosomal recessive type	KEGGH00086
Mucocutaneous lymph node syndrome	PMID: 22446962
Multiple sclerosis	PMID: 17026470
Preeclampsia	PMID: 19221099
Rheumatoid arthritis	PMID: 18794853

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
27488034	Endometrio sis						Show abstract
11526783	Endometrio sis					HLA-DR CD40 CD25	Show abstract