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

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

Summary

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001244.4NP_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:113230
    TNF; TNF(tumor Necrosis Factor) family
  2. NM_001252290.1NP_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)