Covered on Genetics Home Reference: rheumatoid arthritisGraves diseaseFrom NCBI Gene: Immunodeficiency with hyper IgM type 3From UniProt: Immunodeficiency with hyper-IgM 3 (HIGM3): 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. [MIM:606843]

     From NCBI Gene: 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] From UniProt: Receptor for TNFSF5/CD40LG. Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion.

The following transcription factors affect gene expression:

• STAT1
• STAT1alpha
• STAT1beta
• IRF-1
• PPAR-gamma1
• PPAR-gamma2
• NF-kappaB
• NF-kappaB1
• c-Rel
• AP-1

Tissue specificity:

B-cells and in primary carcinomas.

Molecular Function:

• Antigen Binding
• Signal Transducer Activity
• Receptor Activity
• Tumor Necrosis Factor-Activated Receptor Activity
• Enzyme Binding
• Ubiquitin Protein Ligase Binding

Biological Processes:

• Positive Regulation Of Protein Phosphorylation
• Immune Response-Regulating Cell Surface Receptor Signaling Pathway
• Protein Complex Assembly
• Cellular Calcium Ion Homeostasis
• Inflammatory Response
• Immune Response
• Multicellular Organism Development
• Platelet Activation
• Positive Regulation Of B Cell Proliferation
• Response To Lipopolysaccharide
• Positive Regulation Of Interleukin-12 Production
• Tumor Necrosis Factor-Mediated Signaling Pathway
• B Cell Proliferation
• Regulation Of Cell Proliferation
• Positive Regulation Of Tyrosine Phosphorylation Of Stat1 Protein
• Defense Response To Protozoan
• Positive Regulation Of I-Kappab Kinase/Nf-Kappab Signaling
• Positive Regulation Of Map Kinase Activity
• Protein Kinase B Signaling
• Positive Regulation Of Gtpase Activity
• Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
• Positive Regulation Of Isotype Switching To Igg Isotypes
• Regulation Of Immune Response
• Regulation Of Immunoglobulin Secretion
• Positive Regulation Of Nf-Kappab Transcription Factor Activity
• Defense Response To Virus
• Cellular Response To Lipopolysaccharide
• Cellular Response To Mechanical Stimulus
• Positive Regulation Of Protein Kinase C Signaling
• Apoptotic Signaling Pathway
• Positive Regulation Of Endothelial Cell Apoptotic Process