The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the prolifera... See more...

Aliases for TNFRSF8 Gene

Aliases for TNFRSF8 Gene

  • TNF Receptor Superfamily Member 8 2 3 5
  • Tumor Necrosis Factor Receptor Superfamily Member 8 3 4
  • Lymphocyte Activation Antigen CD30 3 4
  • CD30L Receptor 3 4
  • Ki-1 Antigen 3 4
  • D1S166E 3 4
  • CD30 3 4
  • Tumor Necrosis Factor Receptor Superfamily, Member 8 2
  • Cytokine Receptor CD30 3
  • CD30 Antigen 4
  • Ki-1 3

External Ids for TNFRSF8 Gene

Previous HGNC Symbols for TNFRSF8 Gene

  • CD30
  • D1S166E

Previous GeneCards Identifiers for TNFRSF8 Gene

  • GC01P012187
  • GC01P011968
  • GC01P011732
  • GC01P011832
  • GC01P012057
  • GC01P012123
  • GC01P011277

Summaries for TNFRSF8 Gene

Entrez Gene Summary for TNFRSF8 Gene

  • The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for TNFRSF8 Gene

TNFRSF8 (TNF Receptor Superfamily Member 8) is a Protein Coding gene. Diseases associated with TNFRSF8 include Peripheral T-Cell Lymphoma and Reticulosarcoma. Among its related pathways are ERK Signaling and Akt Signaling. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity. An important paralog of this gene is TNFRSF21.

UniProtKB/Swiss-Prot Summary for TNFRSF8 Gene

  • Receptor for TNFSF8/CD30L (PubMed:8391931). May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B (PubMed:8999898).

Gene Wiki entry for TNFRSF8 Gene

Additional gene information for TNFRSF8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNFRSF8 Gene

Genomics for TNFRSF8 Gene

GeneHancer (GH) Regulatory Elements for TNFRSF8 Gene

Promoters and enhancers for TNFRSF8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J012063 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 527.6 +0.9 894 2 SIN3A MYC USF1 HES1 TOE1 CTBP1 REST PRPF4 EZH2 POLR2A TNFRSF8 piR-52079-005 ENSG00000226849 EXOSC10 MIIP
GH01J012126 Promoter 0.6 EPDnew 500.2 +62.6 62633 0.1 SPI1 SCRT1 NR4A1 SCRT2 IKZF1 ZNF600 TNFRSF8 piR-52079-007 piR-54764-006
GH01J012166 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.2 +113.7 113708 21.6 HNRNPK NRF1 JUND PHB2 FOS CTCF EP300 ZIC2 POLR2A ZNF263 TNFRSF1B MTHFR TNFRSF8 CLCN6 VPS13D AGTRAP MIIP MFN2 lnc-TNFRSF8-2 MIR4632
GH01J012054 Enhancer 0.8 FANTOM5 dbSUPER 32.6 -8.9 -8881 0.2 TCF12 MEF2B EBF1 IKZF1 TBP ATF4 JUNB ATF7 ZNF687 MTA2 TNFRSF8 RNU6-777P RPL23AP89 MFN2 MIIP piR-45471-006
GH01J012067 Enhancer 0.9 FANTOM5 dbSUPER 28.5 +2.9 2897 0.3 CTBP1 POLR2A ZNF316 POLR2H POU2F2 EBF1 IKZF1 TBP ATF4 ETV1 piR-52079-005 TNFRSF8 MIIP piR-39694-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNFRSF8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TNFRSF8

Top Transcription factor binding sites by QIAGEN in the TNFRSF8 gene promoter:
  • NF-E2
  • NF-E2 p45
  • p53
  • RSRFC4
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT5A
  • STAT5B

Genomic Locations for TNFRSF8 Gene

Genomic Locations for TNFRSF8 Gene
chr1:12,063,303-12,144,207
(GRCh38/hg38)
Size:
80,905 bases
Orientation:
Plus strand
chr1:12,123,434-12,204,264
(GRCh37/hg19)
Size:
80,831 bases
Orientation:
Plus strand

Genomic View for TNFRSF8 Gene

Genes around TNFRSF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNFRSF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNFRSF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNFRSF8 Gene

Proteins for TNFRSF8 Gene

  • Protein details for TNFRSF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28908-TNR8_HUMAN
    Recommended name:
    Tumor necrosis factor receptor superfamily member 8
    Protein Accession:
    P28908
    Secondary Accessions:
    • B1AN79
    • B9EGD9
    • D3YTD8
    • Q6P4D9

    Protein attributes for TNFRSF8 Gene

    Size:
    595 amino acids
    Molecular mass:
    63747 Da
    Quaternary structure:
    • Interacts with TRAF1, TRAF2, TRAF3 and TRAF5.
    Miscellaneous:
    • Most specific Hodgkin disease associated antigen.

    Three dimensional structures from OCA and Proteopedia for TNFRSF8 Gene

    Alternative splice isoforms for TNFRSF8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNFRSF8 Gene

Post-translational modifications for TNFRSF8 Gene

  • Phosphorylated on serine and tyrosine residues (Probable). Isoform 2 is constitutively phosphorylated (PubMed:8839832).
  • Glycosylation at Ser206, Thr209, Asn101, and Asn276
  • Modification sites at PhosphoSitePlus

Other Protein References for TNFRSF8 Gene

Antibody Products

  • Abcam antibodies for TNFRSF8

No data available for DME Specific Peptides for TNFRSF8 Gene

Domains & Families for TNFRSF8 Gene

Gene Families for TNFRSF8 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TNFRSF8 Gene

Blocks:
  • TNFR/CD27/30/40/95 cysteine-rich region
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TNFRSF8 Gene

GenScript: Design optimal peptide antigens:
  • TNFRSF8 protein (A5D8T4_HUMAN)
  • TNFRSF8 protein (B9EGD9_HUMAN)
  • TNFRSF8 protein (Q6GMU3_HUMAN)
  • Cytokine receptor CD30 (Q9HCX5_HUMAN)
  • Lymphocyte activation antigen CD30 (TNR8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28908

UniProtKB/Swiss-Prot:

TNR8_HUMAN :
  • Belongs to the TNFR8 family.
Family:
  • Belongs to the TNFR8 family.
genes like me logo Genes that share domains with TNFRSF8: view

Function for TNFRSF8 Gene

Molecular function for TNFRSF8 Gene

UniProtKB/Swiss-Prot Function:
Receptor for TNFSF8/CD30L (PubMed:8391931). May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B (PubMed:8999898).
GENATLAS Biochemistry:
tumor necrosis factor receptor superfamily,member 8,cell differentiation antigen CD30 (Ki-1),lymphoid activating,identified by monoclonal antibodies HRS-1,Ki-1

Phenotypes From GWAS Catalog for TNFRSF8 Gene

Gene Ontology (GO) - Molecular Function for TNFRSF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with TNFRSF8: view
genes like me logo Genes that share phenotypes with TNFRSF8: view

Animal Models for TNFRSF8 Gene

MGI Knock Outs for TNFRSF8:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TNFRSF8 Gene

Localization for TNFRSF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNFRSF8 Gene

[Isoform 1]: Cell membrane; Single-pass type I membrane protein.
[Isoform 2]: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNFRSF8 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 3
nucleus 3
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TNFRSF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with TNFRSF8: view

Pathways & Interactions for TNFRSF8 Gene

genes like me logo Genes that share pathways with TNFRSF8: view

Pathways by source for TNFRSF8 Gene

1 KEGG pathway for TNFRSF8 Gene
1 GeneGo (Thomson Reuters) pathway for TNFRSF8 Gene
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway
7 Qiagen pathways for TNFRSF8 Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Molecular Mechanisms of Cancer
  • p38 Signaling
  • STAT3 Pathway
1 Cell Signaling Technology pathway for TNFRSF8 Gene

Gene Ontology (GO) - Biological Process for TNFRSF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 10192335
GO:0008285 negative regulation of cell proliferation TAS 10192335
GO:0033209 tumor necrosis factor-mediated signaling pathway TAS --
GO:0042535 positive regulation of tumor necrosis factor biosynthetic process IDA 16108830
GO:0043065 positive regulation of apoptotic process IDA 16108830
genes like me logo Genes that share ontologies with TNFRSF8: view

No data available for SIGNOR curated interactions for TNFRSF8 Gene

Drugs & Compounds for TNFRSF8 Gene

(15) Drugs for TNFRSF8 Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
brentuximab vedotin Approved, Investigational Pharma Target, binder 0
XmAb 2513 Investigational Pharma Target 0
CD30 ligand Pharma 0
AFM13 Pharma 0
brentuximab Pharma antibody, inhibitor Therapeutic Antibodies 0

(7) Additional Compounds for TNFRSF8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TNFRSF8: view

Transcripts for TNFRSF8 Gene

mRNA/cDNA for TNFRSF8 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TNFRSF8 Gene

No ASD Table

Relevant External Links for TNFRSF8 Gene

GeneLoc Exon Structure for
TNFRSF8

Expression for TNFRSF8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TNFRSF8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNFRSF8 Gene

This gene is overexpressed in Whole Blood (x6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TNFRSF8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TNFRSF8

SOURCE GeneReport for Unigene cluster for TNFRSF8 Gene:

Hs.1314

mRNA Expression by UniProt/SwissProt for TNFRSF8 Gene:

P28908-TNR8_HUMAN
Tissue specificity: [Isoform 2]: Detected in alveolar macrophages (at protein level).

Evidence on tissue expression from TISSUES for TNFRSF8 Gene

  • Blood(4.7)
  • Lymph node(2.9)
  • Skin(2.7)
  • Bone marrow(2.4)
genes like me logo Genes that share expression patterns with TNFRSF8: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TNFRSF8 Gene

Orthologs for TNFRSF8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNFRSF8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNFRSF8 31 30
  • 98.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TNFRSF8 31 30
  • 77.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TNFRSF8 31 30
  • 76.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tnfrsf8 17 31 30
  • 71 (n)
rat
(Rattus norvegicus)
Mammalia Tnfrsf8 30
  • 67.16 (n)
chicken
(Gallus gallus)
Aves TNFRSF8 31 30
  • 54.05 (n)
OneToOne
Species where no ortholog for TNFRSF8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TNFRSF8 Gene

ENSEMBL:
Gene Tree for TNFRSF8 (if available)
TreeFam:
Gene Tree for TNFRSF8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNFRSF8: view image

Paralogs for TNFRSF8 Gene

Variants for TNFRSF8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TNFRSF8 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
709544 Benign: not provided 12,135,604(+) G/A SYNONYMOUS_VARIANT
724984 Benign: not provided 12,104,437(+) A/G SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
727052 Likely Benign: not provided 12,126,175(+) C/T INTRON_VARIANT
732481 Likely Benign: not provided 12,138,363(+) G/T SYNONYMOUS_VARIANT
770325 Benign: not provided 12,123,315(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TNFRSF8 Gene

Structural Variations from Database of Genomic Variants (DGV) for TNFRSF8 Gene

Variant ID Type Subtype PubMed ID
esv1290308 CNV deletion 17803354
esv2662914 CNV deletion 23128226
esv2670946 CNV deletion 23128226
esv2743796 CNV deletion 23290073
esv3350116 CNV insertion 20981092
esv3439333 CNV insertion 20981092
esv3584475 CNV gain 24956385
esv3585230 CNV loss 21293372
esv3585231 CNV loss 21293372
nsv1133810 CNV deletion 24896259
nsv466060 CNV loss 19166990
nsv469830 CNV loss 16826518
nsv476183 CNV novel sequence insertion 20440878
nsv508891 CNV insertion 20534489
nsv525898 CNV loss 19592680
nsv545436 CNV loss 21841781
nsv820293 CNV loss 19587683
nsv945772 CNV duplication 23825009
nsv945773 CNV duplication 23825009

Variation tolerance for TNFRSF8 Gene

Residual Variation Intolerance Score: 42.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNFRSF8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNFRSF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNFRSF8 Gene

Disorders for TNFRSF8 Gene

MalaCards: The human disease database

(125) MalaCards diseases for TNFRSF8 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peripheral t-cell lymphoma
  • peripheral t cell lymphoma
reticulosarcoma
  • diffuse large b-cell lymphoma
malignant histiocytosis
  • histiocytic medullary reticulosis
anaplastic large cell lymphoma
  • alcl
composite lymphoma
  • composite hodgkin and non-hodgkin lymphoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TNFRSF8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TNFRSF8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TNFRSF8 Gene

Publications for TNFRSF8 Gene

  1. Association study between CD30 and CD30 ligand genes and type 1 diabetes in the Japanese population. (PMID: 11960307) Ahmed S … Hara T (Genes and immunity 2002) 3 23 41 54
  2. Opposite effects of the CD30 ligand are not due to CD30 mutations: results from cDNA cloning and sequence comparison of the CD30 antigen from different sources. (PMID: 7527901) Jung W … Pfreundschuh M (Molecular immunology 1994) 3 4 23 54
  3. Molecular cloning and expression of a new member of the nerve growth factor receptor family that is characteristic for Hodgkin's disease. (PMID: 1310894) Dürkop H … Stein H (Cell 1992) 2 3 4 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in Connecticut. (PMID: 20568250) Lee KM … Lan Q (American journal of hematology 2010) 3 41 54

Products for TNFRSF8 Gene

Sources for TNFRSF8 Gene