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

Gene ID: 943, updated on 7-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (12063303..12144207)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11607442..11688342)
105.20220307 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
  • 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. CD30 as a therapeutic target in adult haematological malignancies: Where are we now? Veyri M, et al. Br J Haematol, 2023 Jun. PMID 37170397
  2. CD30 Regulation of IL-13-STAT6 Pathway in Breast Implant-Associated Anaplastic Large Cell Lymphoma. Kadin ME, et al. Aesthet Surg J, 2023 Feb 3. PMID 35999655, Free PMC Article
  3. Hodgkinoid histiocytosis: an atypical nodal CD30 and S100-positive histiocytosis with eosinophilia. Tsuyama N, et al. Histopathology, 2022 Sep. PMID 35789115
  4. CD30 Expression in Oral and Oropharyngeal Diffuse Large B Cell Lymphoma, not Otherwise Specified. Morais-Perdigão AL, et al. Head Neck Pathol, 2022 Jun. PMID 34655411, Free PMC Article
  5. Most rare subtypes of cutaneous lymphoma display variable CD30 expression: analysis of the German Cutaneous Lymphoma Network. Wehkamp U, et al. Br J Dermatol, 2021 Jul. PMID 33480069

See all (225) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. CD30 expression in cutaneous B-cell lymphomas.
    Title: CD30 expression in cutaneous B-cell lymphomas.
  7. 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?
  8. 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.
  9. 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.
  10. CD30 Expression in Oral and Oropharyngeal Diffuse Large B Cell Lymphoma, not Otherwise Specified.
    Title: CD30 Expression in Oral and Oropharyngeal Diffuse Large B Cell Lymphoma, not Otherwise Specified.
Submit: New GeneRIF Correction See all GeneRIFs (193)

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 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_2023_10

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

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