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

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
TNFSF8 is an important leprosy T1R susceptibility gene.
Title: Association of TNFSF8 regulatory variants with excessive inflammatory responses but not leprosy per se.
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.
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].
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.
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.
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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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 EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
IgA measurements in over 12 000 Swedish twins reveal sex differential heritability and regulatory locus near CD30L. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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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

NoName (e-PCR)
- UniSTS:483589

TNFSF8_274 (e-PCR)
- UniSTS:277837

D5Lev21 (e-PCR)
- UniSTS:239714

RH11969 (e-PCR)
- UniSTS:15770

D1S3690 (e-PCR)
- UniSTS:474268

SHGC-54273 (e-PCR)
- UniSTS:42910

D9S1715 (e-PCR)
- UniSTS:32187

SHGC-32411 (e-PCR)
- UniSTS:63726

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)

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
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