Endometriosis Knowledgebase

Search Result

Gene id

959

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CD40LG Gene UCSC Ensembl

Aliases

CD154, CD40L, HIGM1, IGM, IMD3, T-BAM, TNFSF5, TRAP, gp39, hCD40L

Gene name

CD40 ligand

Alternate names

CD40 ligand, CD40 antigen ligand, CD40-L, T-B cell-activating molecule, T-cell antigen Gp39, TNF-related activation protein, tumor necrosis factor (ligand) superfamily member 5,

Gene location

Xq26.3 (136648176: 136660389) Exons: 5 NC_000023.11

Gene summary(Entrez)

The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008]

OMIM

300386

Protein Summary

Protein general information

P29965

Name: CD40 ligand (CD40 L) (T cell antigen Gp39) (TNF related activation protein) (TRAP) (Tumor necrosis factor ligand superfamily member 5) (CD antigen CD154) [Cleaved into: CD40 ligand, membrane form; CD40 ligand, soluble form]

Length: 261 Mass: 29,274

Tissue specificity: Specifically expressed on activated CD4+ T-lymphocytes.

Sequence

MIETYNQTSPRSAATGLPISMKIFMYLLTVFLITQMIGSALFAVYLHRRLDKIEDERNLHEDFVFMKTIQRCNTG
ERSLSLLNCEEIKSQFEGFVKDIMLNKEETKKENSFEMQKGDQNPQIAAHVISEASSKTTSVLQWAEKGYYTMSN
NLVTLENGKQLTVKRQGLYYIYAQVTFCSNREASSQAPFIASLCLKSPGRFERILLRAANTHSSAKPCGQQSIHL
GGVFELQPGASVFVNVTDPSQVSHGTGFTSFGLLKL

Structural information

Interpro:	IPR003263 IPR021184 IPR006052 IPR008983
Prosite:	PS00251 PS50049
Pfam:	PF00229
PDB:	1ALY 1I9R 3LKJ 3QD6
PDBsum:	1ALY 1I9R 3LKJ 3QD6
DIP:	3013
STRING:	ENSP00000359663;

Other Databases

GeneCards: CD40LG; Malacards: CD40LG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005164	tumor necrosis factor rec eptor binding	IEA	molecular_function
GO:0005174	CD40 receptor binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IEA	cellular_component
GO:0005622	intracellular	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:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006954	inflammatory response	IDA	biological_process
GO:0007159	leukocyte cell-cell adhes ion	NAS	biological_process
GO:0007257	activation of JUN kinase activity	IDA	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0030168	platelet activation	IDA	biological_process
GO:0030183	B cell differentiation	IEA	biological_process
GO:0031295	T cell costimulation	TAS	biological_process
GO:0032733	positive regulation of in terleukin-10 production	IDA	biological_process
GO:0032735	positive regulation of in terleukin-12 production	IDA	biological_process
GO:0032753	positive regulation of in terleukin-4 production	IDA	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:0042100	B cell proliferation	IDA	biological_process
GO:0042102	positive regulation of T cell proliferation	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0045190	isotype switching	ISS	biological_process
GO:0048305	immunoglobulin secretion	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	IDA	biological_process
GO:2000353	positive regulation of en dothelial cell apoptotic process	IDA	biological_process
GO:0005125	cytokine activity	IEA	molecular_function
GO:0005164	tumor necrosis factor rec eptor binding	IEA	molecular_function
GO:0005174	CD40 receptor 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:0005622	intracellular	IEA	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:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0006954	inflammatory response	IDA	biological_process
GO:0006955	immune response	IEA	biological_process
GO:0007159	leukocyte cell-cell adhes ion	NAS	biological_process
GO:0007257	activation of JUN kinase activity	IDA	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:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0030168	platelet activation	IDA	biological_process
GO:0030183	B cell differentiation	IEA	biological_process
GO:0031295	T cell costimulation	TAS	biological_process
GO:0032733	positive regulation of in terleukin-10 production	IDA	biological_process
GO:0032735	positive regulation of in terleukin-12 production	IDA	biological_process
GO:0032753	positive regulation of in terleukin-4 production	IDA	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:0042100	B cell proliferation	IDA	biological_process
GO:0042102	positive regulation of T cell proliferation	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0045190	isotype switching	IEA	biological_process
GO:0045190	isotype switching	ISS	biological_process
GO:0048305	immunoglobulin secretion	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	IDA	biological_process
GO:2000353	positive regulation of en dothelial cell apoptotic process	IDA	biological_process
GO:0005174	CD40 receptor binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
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:0006954	inflammatory response	IDA	biological_process
GO:0007159	leukocyte cell-cell adhes ion	NAS	biological_process
GO:0007257	activation of JUN kinase activity	IDA	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0030168	platelet activation	IDA	biological_process
GO:0031295	T cell costimulation	TAS	biological_process
GO:0032733	positive regulation of in terleukin-10 production	IDA	biological_process
GO:0032735	positive regulation of in terleukin-12 production	IDA	biological_process
GO:0032753	positive regulation of in terleukin-4 production	IDA	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:0042100	B cell proliferation	IDA	biological_process
GO:0042102	positive regulation of T cell proliferation	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0045190	isotype switching	ISS	biological_process
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0051092	positive regulation of NF -kappaB transcription fac tor activity	IDA	biological_process
GO:2000353	positive regulation of en dothelial cell apoptotic process	IDA	biological_process

KEGG pathways

hsa04060  Cytokine-cytokine receptor interaction
hsa05145  Toxoplasmosis
hsa04514  Cell adhesion molecules
hsa04660  T cell receptor signaling pathway
hsa04064  NF-kappa B signaling pathway
hsa05144  Malaria
hsa05320  Autoimmune thyroid disease
hsa05416  Viral myocarditis
hsa05322  Systemic lupus erythematosus
hsa05330  Allograft rejection
hsa04672  Intestinal immune network for IgA production
hsa04672  Intestinal immune network for IgA production
hsa05310  Asthma
hsa05145  Toxoplasmosis
hsa05330  Allograft rejection
hsa04064  NF-kappa B signaling pathway
hsa05320  Autoimmune thyroid disease
hsa05322  Systemic lupus erythematosus
hsa05340  Primary immunodeficiency
hsa05144  Malaria
hsa05340  Primary immunodeficiency
hsa05310  Asthma
hsa05416  Viral myocarditis
hsa04514  Cell adhesion molecules (CAMs)
hsa04660  T cell receptor signaling pathway
hsa04060  Cytokine-cytokine receptor interaction

Diseases

Associated diseases	References
Atherosclerosis	PMID: 16504636
Combined immunodeficiencies	KEGG: H00093
Endometriosis	PMID: 21508908
Graves disease	PMID: 15307939
Polycystic ovary syndrome (PCOS)	PMID: 18554599
Preeclampsia	PMID: 23241952
Rheumatoid arthritis	PMID: 17845713
Deep infiltrating endometriosis	INFBASE27190986
Systemic lupus erythematosus	PMID: 14962968
Immunodeficiency, X-linked, with hyper-IgM	OMIM300386
Combined immunodeficiencies (CIDs)	KEGGH00093

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
27190986	Endometrio sis (Deep infiltrati ng)			60 (31 endometr iosis patients, 29 controls)			Show abstract