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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
    Physical map
    CDT6 1p36.3-p36.2 angiopoietin-like factor TERE1 1p36 angiopoietin-like factor KIAA1337 1p36.21 KIAA1337 protein FBXO2 1p36.21 F-box only protein 2 FBX30 1p36.21 F-box protein FBX30 FBXO6 1p36.23-p36.11 F-box only protein 6 MAD2L2 1p36 MAD2 mitotic arrest deficient-like 2 (yeast) LOC374946 1p36.21 hypothetical gene supported by AK075558; BC021286 AGTRAP 1p36.21 angiotensin II receptor-associated protein DKFZp434E1410 1p36.21 hypothetical protein DKFZp434E1410 MTHFR 1p36.3 5,10-methylenetetrahydrofolate reductase (NADPH) CLCN6 1p36.2 chloride channel 6 NPPA 1p36.2 natriuretic peptide precursor A NPPB 1p36.2 natriuretic peptide precursor B LOC390997 1 similar to SET binding factor 1 isoform a; myotubularin-related protein 5 MGC33867 1p36.21 hypothetical protein MGC33867 PLOD 1p36.31 procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI) MFN2 1p36.21 mitofusin 2 FLJ12438 1p36.21 hypothetical protein FLJ12438 TNFRSF8 1p36 tumor necrosis factor receptor superfamily, member 8 TNFRSF1B 1p36.32 tumor necrosis factor receptor superfamily, member 1B LOC390998 1 similar to 60S ribosomal protein L10 (QM protein) (Tumor suppressor QM) (Laminin receptor homolog) FLJ10619 DHRS3 1p36.1 dehydrogenase/reductase (SDR family) member 3 LOC343066 1p36.21 similar to Arylacetamide deacetylase (AADAC) LOC126767 1p36.21 similar to arylacetamide deacetylase MGC35194 1p36.21 hypothetical protein MGC35194 LOC390999 1 similar to Hypothetical protein DJ1198H6.2 LOC65121 1p36.21 hypothetical protein similar to preferentially expressed antigen of melanoma LOC343068 1p36.21 hypothetical protein LOC343068 LOC391000 1 similar to Hypothetical protein DJ845O24.1 LOC343069 1p36.21 similar to Heterogeneous nuclear ribonucleoprotein C-like dJ845O24.4 (hnRNP core protein C-like) LOC65122 1p36.21 hypothetical protein similar to preferentially expressed antigen of melanoma LOC343070 1p36.21 hypothetical protein LOC343070
    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