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    TNFRSF8 TNF receptor superfamily member 8 [ Homo sapiens (human) ]

    Gene ID: 943, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TNFRSF8provided by HGNC
    Official Full Name
    TNF receptor superfamily member 8provided by HGNC
    Primary source
    HGNC:HGNC:11923
    See related
    Ensembl:ENSG00000120949 MIM:153243; AllianceGenome:HGNC:11923
    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
    CD30; Ki-1; D1S166E
    Summary
    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]
    Expression
    Broad expression in appendix (RPKM 1.3), fat (RPKM 1.0) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TNFRSF8 in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (12063303..12144207)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11607442..11688342)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (12123360..12204264)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr1.1957 Neighboring gene migration and invasion inhibitory protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 188 Neighboring gene microRNA 6729 Neighboring gene RNA, 7SL, cytoplasmic 649, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 197 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12122803-12123035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12138073-12139071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 200 Neighboring gene RNA, U6 small nuclear 777, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 202 Neighboring gene ribosomal protein L23a pseudogene 89 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12220881-12221390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12221391-12221900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12221901-12222410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 284 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 285 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12227474-12228115 Neighboring gene Sharpr-MPRA regulatory region 6671 Neighboring gene uncharacterized LOC124903844 Neighboring gene TNF receptor superfamily member 1B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:12238957-12239924 Neighboring gene microRNA 7846

    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. Aberrant expression of CD30 in aggressive systemic mastocytosis and mast cell leukemia: a differential diagnosis to consider in aggressive hematopoietic CD30-positive neoplasms. Valent P, et al. Leuk Lymphoma, 2011 May. PMID 21261503
    2. Predicting renal graft failure by sCD30 levels and de novo HLA antibodies at 1year post-transplantation. Wang D, et al. Transpl Immunol, 2012 Jun. PMID 22446727
    3. Hodgkin's lymphoma cells are efficiently engrafted and tumor marker CD30 is expressed with constitutive nuclear factor-kappaB activity in unconditioned NOD/SCID/gammac(null) mice. Dewan MZ, et al. Cancer Sci, 2005 Aug. PMID 16108827, Free PMC Article
    4. Serum levels of soluble CD26 and CD30 and their clinical significance in patients with rheumatoid arthritis. Ulusoy H, et al. Rheumatol Int, 2012 Dec. PMID 22193227
    5. Ber-H2 (CD30) immunohistochemical staining of human fetal tissues. Tamiolakis D, et al. Int J Biol Sci, 2005. PMID 16244703, Free PMC Article

    See all (234) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression and Clinical Significance of CD30 and CD56 in Lymphoblastic Lymphoma: A Retrospective Analysis on Paraffin-Embedded Tissues by Immunohistochemistry.
      Title: Expression and Clinical Significance of CD30 and CD56 in Lymphoblastic Lymphoma: A Retrospective Analysis on Paraffin-Embedded Tissues by Immunohistochemistry.
    2. EBV-positive Nodal T-Cell and NK-Cell Lymphoma: A Study of 26 Cases Including a Subset With Strong CD30 Expression Mimicking Anaplastic Large Cell Lymphoma.
      Title: EBV-positive Nodal T-Cell and NK-Cell Lymphoma: A Study of 26 Cases Including a Subset With Strong CD30 Expression Mimicking Anaplastic Large Cell Lymphoma.
    3. Optimizing assessment of CD30 expression in Hodgkin lymphoma by controlling for low expression.
      Title: Optimizing assessment of CD30 expression in Hodgkin lymphoma by controlling for low expression.
    4. CD30 protects EBV-positive diffuse large B-cell lymphoma cells against mitochondrial dysfunction through BNIP3-mediated mitophagy.
      Title: CD30 protects EBV-positive diffuse large B-cell lymphoma cells against mitochondrial dysfunction through BNIP3-mediated mitophagy.
    5. Differential expression of BCL11b and CDKN2A in CD30-positive peripheral T cell lymphoma: Retrospective study.
      Title: Differential expression of BCL11b and CDKN2A in CD30-positive peripheral T cell lymphoma: Retrospective study.
    6. Variant histology of pediatric nodular lymphocyte-predominant Hodgkin lymphoma with IgD and CD30 expression.
      Title: Variant histology of pediatric nodular lymphocyte-predominant Hodgkin lymphoma with IgD and CD30 expression.
    7. CD30 expression in cutaneous B-cell lymphomas.
      Title: CD30 expression in cutaneous B-cell lymphomas.
    8. CD30 as a therapeutic target in adult haematological malignancies: Where are we now?
      Title: CD30 as a therapeutic target in adult haematological malignancies: Where are we now?
    9. CD30 Regulation of IL-13-STAT6 Pathway in Breast Implant-Associated Anaplastic Large Cell Lymphoma.
      Title: CD30 Regulation of IL-13-STAT6 Pathway in Breast Implant-Associated Anaplastic Large Cell Lymphoma.
    10. Hodgkinoid histiocytosis: an atypical nodal CD30 and S100-positive histiocytosis with eosinophilia.
      Title: Hodgkinoid histiocytosis: an atypical nodal CD30 and S100-positive histiocytosis with eosinophilia.
    Submit: New GeneRIF Correction See all GeneRIFs (194)

    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

    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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    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of TNFRSF8 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of tumor necrosis factor receptor superfamily, member 8 (TNFRSF8, CD30) PubMed
    Vif vif HIV-1 Vif upregulates the expression of tumor necrosis factor receptor superfamily, member 8 (TNFRSF8) in Vif-expression T cells PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of tumor necrosis factor receptor superfamily, member 8 (TNFRSF8, CD30) 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to mechanical stimulus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of TRAIL production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    tumor necrosis factor receptor superfamily member 8
    Names
    CD30L receptor
    Ki-1 antigen
    cytokine receptor CD30
    lymphocyte activation antigen CD30

    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.

    Genomic

    1. NG_029573.2 RefSeqGene

      Range
      4927..85831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243.5 → NP_001234.3  tumor necrosis factor receptor superfamily member 8 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001234.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL357835, BC136400, BC141804, M83554
      Consensus CDS
      CCDS144.1
      UniProtKB/Swiss-Prot
      B1AN79, B9EGD9, D3YTD8, P28908, Q6P4D9
      Related
      ENSP00000263932.2, ENST00000263932.7
      Conserved Domains (1) summary
      cd13409
      Location:17 → 131
      TNFRSF8; Tumor necrosis factor receptor superfamily member 8 (TNFRSF8), also known as CD30

    2. NM_001281430.3 → NP_001268359.2  tumor necrosis factor receptor superfamily member 8 isoform 3

      See identical proteins and their annotated locations for NP_001268359.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 3) is shorter than isoform 1.
      Source sequence(s)
      AL357835, BC136400, BC141804, M83554
      Consensus CDS
      CCDS59989.1
      UniProtKB/Swiss-Prot
      P28908
      UniProtKB/TrEMBL
      A5D8T4
      Related
      ENSP00000390650.2, ENST00000417814.3
      Conserved Domains (2) summary
      cd13409
      Location:62 → 195
      TNFRSF8; Tumor necrosis factor receptor superfamily member 8 (TNFRSF8), also known as CD30
      cl22855
      Location:1 → 20
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      12063303..12144207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542441.4 → XP_011540743.1  tumor necrosis factor receptor superfamily member 8 isoform X1

      Conserved Domains (1) summary
      cd13409
      Location:17 → 131
      TNFRSF8; Tumor necrosis factor receptor superfamily member 8 (TNFRSF8), also known as CD30

    2. XM_047434793.1 → XP_047290749.1  tumor necrosis factor receptor superfamily member 8 isoform X2

    3. XM_047434799.1 → XP_047290755.1  tumor necrosis factor receptor superfamily member 8 isoform X3

    4. XM_011542443.3 → XP_011540745.1  tumor necrosis factor receptor superfamily member 8 isoform X4

      Conserved Domains (2) summary
      cd13409
      Location:62 → 195
      TNFRSF8; Tumor necrosis factor receptor superfamily member 8 (TNFRSF8), also known as CD30
      cl22855
      Location:1 → 20
      TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      11607442..11688342
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339680.1 → XP_054195655.1  tumor necrosis factor receptor superfamily member 8 isoform X1

    2. XM_054339681.1 → XP_054195656.1  tumor necrosis factor receptor superfamily member 8 isoform X2

    3. XM_054339682.1 → XP_054195657.1  tumor necrosis factor receptor superfamily member 8 isoform X3

    4. XM_054339683.1 → XP_054195658.1  tumor necrosis factor receptor superfamily member 8 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152942.2: Suppressed sequence

      Description
      NM_152942.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28908.1 GenPept UniProtKB/Swiss-Prot:P28908

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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