CD40LG CD40 ligand [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD40LGprovided by HGNC
Official Full Name: CD40 ligandprovided by HGNC
Primary source: HGNC:HGNC:11935
See related: Ensembl:ENSG00000102245 MIM:300386; AllianceGenome:HGNC:11935
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IGM; IMD3; TRAP; gp39; CD154; CD40L; HIGM1; T-BAM; TNFSF5; hCD40L
Summary: 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]
Expression: Biased expression in lymph node (RPKM 7.7), appendix (RPKM 4.4) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq26.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (136648158..136660390)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (134956900..134969116)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (135730317..135742549)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Implications of CD154 and Its Receptors in the Pathogenesis and Treatment of Systemic Lupus Erythematosus.
Title: Implications of CD154 and Its Receptors in the Pathogenesis and Treatment of Systemic Lupus Erythematosus.
A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.
Title: A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.
Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome.
Title: Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome.
Disseminated cryptococcosis in two boys with novel mutation of CD40 Ligand-Associated X-linked hyper-IgM syndrome.
Title: Disseminated cryptococcosis in two boys with novel mutation of CD40 Ligand-Associated X-linked hyper-IgM syndrome.
Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients.
Title: Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients.
Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China.
Title: Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China.
Termination of CD40L co-stimulation promotes human B cell differentiation into antibody-secreting cells.
Title: Termination of CD40L co-stimulation promotes human B cell differentiation into antibody-secreting cells.
RANTES and CD40L under Conditions of Long-Term Physical Exercise: A Potential Link to Adaptive Immunity.
Title: RANTES and CD40L under Conditions of Long-Term Physical Exercise: A Potential Link to Adaptive Immunity.
Novel Functions of Integrins as Receptors of CD154: Their Role in Inflammation and Apoptosis.
Title: Novel Functions of Integrins as Receptors of CD154: Their Role in Inflammation and Apoptosis.
Methyl donor micronutrients, CD40-ligand methylation and disease activity in systemic lupus erythematosus: A cross-sectional association study.
Title: Methyl donor micronutrients, CD40-ligand methylation and disease activity in systemic lupus erythematosus: A cross-sectional association study.

Submit: New GeneRIF Correction See all GeneRIFs (457)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hyper-IgM syndrome type 1 MedGen: C0398689 OMIM: 308230 GeneReviews: X-Linked Hyper IgM Syndrome	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-04-08) ClinGen Genome Curation PagePubMed Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-08) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Binding of HIV-1 gp120 to DC-SIGN sensitizes monocyte-derived dendritic cells for CD40L-mediated apoptosis	PubMed
	env	The binding of HIV-1 gp120 to CD4 molecules on T cells interrupts the sequential cascade of intercellular interactions involving antigen/MHC class II-TCR/CD4, CD40L-CD40, and B71-CD28	PubMed
Nef	nef	A significant increase is observed in polyfunctional Nef-specific CD4 T cells expressing CD154 after vaccination with the modified vaccinia virus Ankara (MVA)-expressing HIV-1 nef	PubMed
	nef	HIV-1 Nef suppresses immunoglobulin class-switch DNA recombination by inducing IkappaBalpha and SOCS proteins, which block CD154, IL-4 and IL-10 cytokine signaling via NF-kappaB and STAT transcription factors	PubMed
Pr55(Gag)	gag	CD40L expression on the surface of virus-like particles (VLPs) is to target HIV-1 Gag antigens to the CD40 receptor on dendritic cell (DCs)	PubMed
Tat	tat	HIV-1 Tat-induced platelet activation leads to release of the platelet CD154 (CD40L), an immune modulator	PubMed
	tat	Recombinant CD40L synergizes with HIV-1 Tat to increase TNF-alpha release from primary human monocytes and microglia in an NF-kappaB-dependent manner. This synergism is attributed to a Tat-mediated up-regulation of CD40	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CD40LG (e-PCR)
- UniSTS:506648

RH17600 (e-PCR)
- UniSTS:53033

G10615 (e-PCR)
- UniSTS:32043

DXS1256 (e-PCR)
- UniSTS:99656

TNFSF5_272 (e-PCR)
- UniSTS:277836

GDB:204469 (e-PCR)
- UniSTS:98893

NoName (e-PCR)
- UniSTS:482135

PMC86001P3 (e-PCR)
- UniSTS:273504

DXS8200 (e-PCR)
- UniSTS:40596

PMC259134P1 (e-PCR)
- UniSTS:272292

Camk2g (e-PCR), detects polymorphism
- UniSTS:141221

GDB:340965 (e-PCR)
- UniSTS:156629

GDB:340969 (e-PCR)
- UniSTS:156630

GDB:340972 (e-PCR)
- UniSTS:156631

GDB:340979 (e-PCR)
- UniSTS:156632

GDB:340983 (e-PCR)
- UniSTS:156633

GDB:340987 (e-PCR)
- UniSTS:156634

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CD40 receptor binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables CD40 receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	IDA Inferred from Direct Assay more info	PubMed
enables integrin binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables tumor necrosis factor receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in B cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in CD40 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in CD40 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in T cell costimulation	TAS Traceable Author Statement more info	PubMed
involved_in cell surface receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in isotype switching	ISS Inferred from Sequence or Structural Similarity more info
involved_in leukocyte cell-cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet activation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of endothelial cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of extrinsic apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of interleukin-10 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-12 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-4 production	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of immunoglobulin production	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: CD40 ligand

Names: 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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.