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FLASH GENE
Symbol TNFRSF8 contributors: mct/pgu - updated : 24-03-2011
HGNC name tumor necrosis factor receptor superfamily, member 8
HGNC id 11923
Location 1p36.22      Physical location : 12.123.433 - 12.204.262
Synonym name
  • cell differentiation antigen CD30 (Ki-1), identified by monoclonal antibodies HRS-1, Ki-1
  • lymphocyte activation antigen CD30
  • CD30L receptor
  • cytokine receptor CD30
  • Ki-1 antigen
  • Synonym symbol(s) CD30, KI-1, D1S166E
    DNA
    TYPE functioning gene
    STRUCTURE 80.83 kb     15 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 splicing initiation site 3686 61.2 595 type I membrane protein 2009 19131627
    5 splicing initiation site 2361 14 132 cytoplasmic 2009 19131627
    differing in 5' UTR and coding region (having a shorter N-terminus)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immuneactivated B lymphocyte
    Lymphoid/Immuneactivated leukocyte Homo sapiens
    Lymphoid/ImmuneT cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • extracytoplasmic cysteine-rich pseudorepeats
  • a preligand assembly domain (PLAD) in CRD1 mediating ligand-independent receptor assembly and signaling
  • a small cytoplasmic domain without catalytic activity
  • six TNFR-Cys repeats
  • conjugated GlycoP , PhosphoP
    mono polymer homomer , trimer
    HOMOLOGY
    interspecies ortholog to murine Tnfrsf8
    homolog to rattus Tnfrsf8
    homolog to C.elegans F28F9.1
    Homologene
    FAMILY
  • TNFR-associated factor (TRAF)-linked TNFR superfamily
  • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • mediating the signal transduction leading to the activation of NF-kappaB (regulation of gene expression)
  • acting as a positive regulator of apoptosis and a negative regulation of cell proliferation
  • limiting the proliferative potential of autoreactive CD8 effector T cells
  • important in cell development, and proliferation, and also pathway-related to terminal differentiation in many fetal tissues and organs
  • protecting the body against autoimmunity
  • receptor for TNFSF8/CD30L
  • regulator of T(h)2 responses in the effector-memory phase and a regulator of IL13 production in memory cells in the lung
  • its expression is associated with superficial cutaneous fungal infections
  • playing a role in the regulation of cellular growth and transformation of activated lymphoblasts
  • important role of both TNFRSF4 and TNFRSF8 during CD8(+) T-cell activation, and long-term CD8 persistence after contraction is regulated not only by stimulatory receptors but also by the nature of the antigen or how the antigen is presented
  • inducible NK-cell receptor critical for innate immunity against cytomegalovirus (
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to TRAF1, TRAF2, TRAF3 and TRAF5
  • TXN affects CD30-dependent changes in lymphocyte effector function
  • ARNT is a TNFRSF8-interacting protein that modulated the activity of the RELB subunit of the transcription factor nuclear factor kappaB (NF-kappaB)
  • TRAF1 is an important molecule mediating both the TNFRSF8 signaling-dependent and independent NF-kappaB activation, which prevents the lymphoma cells from spontaneous and induced apoptosis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    aberrant expression in neoplastic mast cells in high-grade mastocytosis
    constitutional     --low  
    in preeclampsia and women who deliver an small for gestational age (SGA) neonates
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    TNFRSF8-targeted therapy in combination with galectin-1 treatment may induce effective killing of anaplastic large cell lymphoma cells but not in Hodgkin lymphoma cells
    cancerhemopathy 
    potential target of antibody-based therapeutic intervention in advanced mast cell disorders
    cancerhemopathy 
    TNFRSF8-targeted therapy in anaplastic large cell lymphoma should be combined with NF-kappaB inhibitors to induce effective cell killing
    ANIMAL & CELL MODELS