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    TNFSF8 TNF superfamily member 8 [ Homo sapiens (human) ]

    Gene ID: 944, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TNFSF8provided by HGNC
    Official Full Name
    TNF superfamily member 8provided by HGNC
    Primary source
    HGNC:HGNC:11938
    See related
    Ensembl:ENSG00000106952 MIM:603875; AllianceGenome:HGNC:11938
    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
    CD153; CD30L; CD30LG; TNLG3A
    Summary
    The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
    Expression
    Biased expression in lymph node (RPKM 9.3), appendix (RPKM 6.6) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TNFSF8 in Genome Data Viewer
    Location:
    9q32-q33.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (114893343..114930595, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (127085794..127123084, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (117655623..117692875, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene TNF superfamily member 15 Neighboring gene pre-mRNA processing factor kinase PRP4K pseudogene Neighboring gene Sharpr-MPRA regulatory region 6981 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:117656118-117657317 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:117669626-117670248 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:117670249-117670870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:117691965-117692524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28881 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:117797665-117798864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28882 Neighboring gene tenascin C Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:117825442-117826641 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117827001-117827743 Neighboring gene uncharacterized LOC124902256 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:117838052-117838579 Neighboring gene uncharacterized LOC124902255 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:117876192-117877391 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117880715-117881534 Neighboring gene uncharacterized LOC101928748

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Association of a novel functional promoter variant (rs2075533 C>T) in the apoptosis gene TNFSF8 with risk of lung cancer--a finding from Texas lung cancer genome-wide association study. Wei S, et al. Carcinogenesis, 2011 Apr. PMID 21292647, Free PMC Article
    2. High CD30 ligand expression by epithelial cells and Hassal's corpuscles in the medulla of human thymus. Romagnani P, et al. Blood, 1998 May 1. PMID 9558389
    3. Engagement of CD153 (CD30 ligand) by CD30+ T cells inhibits class switch DNA recombination and antibody production in human IgD+ IgM+ B cells. Cerutti A, et al. J Immunol, 2000 Jul 15. PMID 10878352, Free PMC Article
    4. CD30 and its ligand: possible role in regulation of teratoma stem cells. Pera MF, et al. APMIS, 1998 Jan. PMID 9524575
    5. Mast cell CD30 ligand is upregulated in cutaneous inflammation and mediates degranulation-independent chemokine secretion. Fischer M, et al. J Clin Invest, 2006 Oct. PMID 16964309, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Several genetic variants associated with systemic sclerosis in a Chinese Han population.
      Title: Several genetic variants associated with systemic sclerosis in a Chinese Han population.
    2. Polyfunctional CD153-expressing CD4 T cells are increased in latent Mycobacterium tuberculosis infection compared to active Tuberculosis.
      Title: Host resistance to pulmonary Mycobacterium tuberculosis infection requires CD153 expression.
    3. Data suggest that Brentuximab Vedotin (SGN-35) damaged CD30 ligand (CD30L)-immune cells through CD30 extracellular vesicles (EVs).
      Title: CD30 on extracellular vesicles from malignant Hodgkin cells supports damaging of CD30 ligand-expressing bystander cells with Brentuximab-Vedotin, in vitro.
    4. circulant sCD30L is functionally active and that it may favor persistence of active inflammation by inducing apoptosis of CD30(+)T cells, known to down-modulate inflammation in rheumatoid synovitis.
      Title: In rheumatoid arthritis soluble CD30 ligand is present at high levels and induces apoptosis of CD30(+)T cells.
    5. TNFSF8 is an important leprosy T1R susceptibility gene.
      Title: Association of TNFSF8 regulatory variants with excessive inflammatory responses but not leprosy per se.
    6. The heritability of IgA levels is moderate and can partly be attributable to common variation in the CD30L locus.
      Title: IgA measurements in over 12 000 Swedish twins reveal sex differential heritability and regulatory locus near CD30L.
    7. soluble apoptosis markers as sFas-L, Caspase-9, Caspase-8 and sCD153 were significantly higher in stage III obesity patients compared obese patients without food allergy
      Title: [Soluble apoptosis markers in obese patients with food intolerance].
    8. a novel and unexpected role for CD30/CD30L that contributes to proinflammatory immune responses
      Title: A novel role for reciprocal CD30-CD30L signaling in the cross-talk between natural killer and dendritic cells.
    9. The TNFSF8 polymorphisms rs927374 and rs2295800 were associated with neutrophil count. This finding suggests that post-MI inflammatory response is genetically modulated.
      Title: Association of TNFSF8 polymorphisms with peripheral neutrophil count.
    10. Positional candidate gene screening in the SPA2 locus allowed us to identify and replicate an association between a rare SNP located in TNFSF8 and spondylarthritis.
      Title: Systematic candidate gene investigations in the SPA2 locus (9q32) show an association between TNFSF8 and susceptibility to spondylarthritis.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    IgA measurements in over 12 000 Swedish twins reveal sex differential heritability and regulatory locus near CD30L.
    EBI GWAS Catalog
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of tumor necrosis factor ligand superfamily, member 8 (TNFSF8) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC138144

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables tumor necrosis factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in CD8-positive, alpha-beta T cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in defense response to Gram-positive bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of T cell proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    tumor necrosis factor ligand superfamily member 8
    Names
    CD153 antigen
    CD30 antigen ligand
    CD30 ligand
    CD30-L
    tumor necrosis factor (ligand) superfamily, member 8
    tumor necrosis factor ligand 3A
    tumor necrosis factor superfamily member 8

    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.

    mRNA and Protein(s)

    1. NM_001244.4 → NP_001235.1  tumor necrosis factor ligand superfamily member 8 isoform 1

      See identical proteins and their annotated locations for NP_001235.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA748015, AK313619, AL133412
      Consensus CDS
      CCDS6810.1
      UniProtKB/Swiss-Prot
      O43404, P32971
      UniProtKB/TrEMBL
      Q52M88
      Related
      ENSP00000223795.2, ENST00000223795.3
      Conserved Domains (1) summary
      pfam00229
      Location:113 → 230
      TNF; TNF(tumor Necrosis Factor) family

    2. NM_001252290.1 → NP_001239219.1  tumor necrosis factor ligand superfamily member 8 isoform 2

      See identical proteins and their annotated locations for NP_001239219.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region of the last exon and contains an alternate downstream exon compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK313619, AW118787, BX108999, CD690231
      Consensus CDS
      CCDS75884.1
      UniProtKB/TrEMBL
      A0A087X228
      Related
      ENSP00000484651.1, ENST00000618336.4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      114893343..114930595 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      127085794..127123084 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P32971.1 GenPept UniProtKB/Swiss-Prot:P32971

    Gene LinkOut

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