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Aliases for TNFRSF8 Gene

Aliases for TNFRSF8 Gene

  • TNF Receptor Superfamily Member 8 2 3 5
  • 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
  • Tumor Necrosis Factor Receptor Superfamily Member 8 3
  • 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
  • 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 Malignant Histiocytosis and Milker's Nodule. Among its related pathways are TRAF Pathway and Innate Immune System. GO annotations related to this gene include transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot for TNFRSF8 Gene

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

Gene Wiki entry for TNFRSF8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNFRSF8 Gene

Genomics for TNFRSF8 Gene

Regulatory Elements for TNFRSF8 Gene

Enhancers for TNFRSF8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G012063 1.8 FANTOM5 Ensembl ENCODE dbSUPER 27.7 +0.8 797 1.9 HDGF ATF1 CREB3L1 SIN3A ZNF2 ZNF766 ZNF143 KDM4B REST TBX21 TNFRSF8 MIIP GC01M012075
GH01G012054 1 FANTOM5 dbSUPER 32.6 -8.9 -8909 0.2 SMARCA5 ESRRA MTA2 JUNB DPF2 EBF1 GATA2 POLR2A HDAC2 IKZF1 TNFRSF8 RNU6-777P RPL23AP89 MFN2 MIIP GC01P012045
GH01G012067 1.1 FANTOM5 dbSUPER 28.5 +2.9 2870 0.3 HDAC1 TBP ETV1 ZNF175 EBF1 ZNF766 ZNF316 ZNF366 POLR2A EED TNFRSF8 MIIP GC01M012075
GH01G012166 1.8 FANTOM5 ENCODE dbSUPER 16.2 +111.1 111086 15.6 HDGF PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A YY1 ZNF766 MTHFR TNFRSF1B UBIAD1 TNFRSF8 CLCN6 VPS13D AGTRAP MIIP MFN2 MIR4632
GH01G012051 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.2 -10.6 -10588 2.0 HDGF PKNOX1 ATF1 WRNIP1 ZNF121 ZNF766 GLIS2 ZNF207 FOS CAVIN1 TNFRSF8 MIIP GC01P012045
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TNFRSF8 on UCSC Golden Path with GeneCards custom track

Genomic Location for TNFRSF8 Gene

Chromosome:
1
Start:
12,063,330 bp from pter
End:
12,144,207 bp from pter
Size:
80,878 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.
  • Glycosylation at Asn101, posLast=209209, and posLast=276276
  • Modification sites at PhosphoSitePlus

Other Protein References for TNFRSF8 Gene

Antibody Products

  • R&D Systems Antibodies for TNFRSF8 (CD30/TNFRSF8)
  • Abcam antibodies for TNFRSF8

No data available for DME Specific Peptides for TNFRSF8 Gene

Domains & Families for TNFRSF8 Gene

Gene Families for TNFRSF8 Gene

Protein Domains for TNFRSF8 Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for TNFRSF8 Gene

Molecular function for TNFRSF8 Gene

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
UniProtKB/Swiss-Prot Function:
Receptor for TNFSF8/CD30L. May play a role in the regulation of cellular growth and transformation of activated lymphoblasts. Regulates gene expression through activation of NF-kappa-B.

Gene Ontology (GO) - Molecular Function for TNFRSF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 1310894
GO:0005031 tumor necrosis factor-activated receptor activity IBA --
GO:0048406 nerve growth factor binding IBA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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 5
nucleus 4
cytoskeleton 2
cytosol 2
lysosome 2

Gene Ontology (GO) - Cellular Components for TNFRSF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
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

Gene Ontology (GO) - Biological Process for TNFRSF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response IBA --
GO:0006955 immune response IBA --
GO:0007165 signal transduction TAS 10192335
GO:0007411 axon guidance IBA --
GO:0008285 negative regulation of cell proliferation TAS 10192335
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
brentuximab vedotin Approved Pharma Target, binder 0
Adcetris Approved August 2011 Pharma 0
CD30 ligand Pharma 0
AFM13 Pharma 0
brentuximab Pharma antibody, inhibitor Therapeutic Antibodies 0

(6) 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

Unigene Clusters for TNFRSF8 Gene

Tumor necrosis factor receptor superfamily, member 8:
Representative Sequences:

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

No ASD Table

Relevant External Links for TNFRSF8 Gene

GeneLoc Exon Structure for
TNFRSF8
ECgene alternative splicing isoforms for
TNFRSF8

Expression for TNFRSF8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TNFRSF8 Gene



NURSA nuclear receptor signaling pathways regulating expression of TNFRSF8 Gene:

TNFRSF8

SOURCE GeneReport for Unigene cluster for TNFRSF8 Gene:

Hs.1314

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

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt 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 34 35
  • 98.83 (n)
cow
(Bos Taurus)
Mammalia TNFRSF8 34 35
  • 77.39 (n)
dog
(Canis familiaris)
Mammalia TNFRSF8 34 35
  • 76.9 (n)
mouse
(Mus musculus)
Mammalia Tnfrsf8 34 16 35
  • 71 (n)
rat
(Rattus norvegicus)
Mammalia Tnfrsf8 34
  • 67.16 (n)
chicken
(Gallus gallus)
Aves TNFRSF8 34 35
  • 54.05 (n)
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)

Paralogs for TNFRSF8 Gene

No data available for Paralogs for TNFRSF8 Gene

Variants for TNFRSF8 Gene

Sequence variations from dbSNP and Humsavar for TNFRSF8 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs138595447 Uncertain significance 12,123,717(+) CAGCA(C/T)CAGCC reference, missense
rs193921033 Uncertain significance 12,104,381(+) TAGAC(G/T)ACCTC reference, missense, utr-variant-5-prime
rs1000017817 -- 12,091,497(+) CACCC(A/T)GGCAG intron-variant
rs1000023885 -- 12,117,563(+) CTCCG(C/T)CCATG intron-variant
rs1000080422 -- 12,132,796(+) ACGTG(C/T)CACTA intron-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
malignant histiocytosis
  • histiocytic medullary reticulosis [obs]
milker's nodule
  • milker nodule
pityriasis lichenoides et varioliformis acuta
  • mucha-habermann disease
anaplastic large cell lymphoma
  • alcl
reticulosarcoma
  • lymphoma, non-hodgkin
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TNFRSF8

Genetic Association Database (GAD)
TNFRSF8
Human Genome Epidemiology (HuGE) Navigator
TNFRSF8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TNFRSF8
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 Immun. 2002) 3 22 46 64
  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. (Mol. Immunol. 1994) 3 4 22 64
  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) Duerkop H. … Stein H. (Cell 1992) 2 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in Connecticut. (PMID: 20568250) Lee K.M. … Lan Q. (Am. J. Hematol. 2010) 3 46 64

Products for TNFRSF8 Gene

Sources for TNFRSF8 Gene

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