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Human Gene TNFRSF8 (ENST00000263932.7) from GENCODE V38
  Description: Homo sapiens TNF receptor superfamily member 8 (TNFRSF8), transcript variant 1, mRNA. (from RefSeq NM_001243)
RefSeq Summary (NM_001243): 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].
Gencode Transcript: ENST00000263932.7
Gencode Gene: ENSG00000120949.15
Transcript (Including UTRs)
   Position: hg38 chr1:12,063,303-12,144,207 Size: 80,905 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr1:12,063,599-12,142,531 Size: 78,933 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:12,063,303-12,144,207)mRNA (may differ from genome)Protein (595 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Tumor necrosis factor receptor superfamily member 8; AltName: Full=CD30L receptor; AltName: Full=Ki-1 antigen; AltName: Full=Lymphocyte activation antigen CD30; AltName: CD_antigen=CD30; Flags: Precursor;
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.
SUBUNIT: Interacts with TRAF1, TRAF2, TRAF3 and TRAF5.
SUBCELLULAR LOCATION: Isoform Long: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform Short: Cytoplasm.
PTM: Phosphorylated on serine and tyrosine residues.
MISCELLANEOUS: Most specific Hodgkin disease associated antigen.
SIMILARITY: Contains 6 TNFR-Cys repeats.

-  MalaCards Disease Associations
  MalaCards Gene Search: TNFRSF8
Diseases sorted by gene-association score: anaplastic large cell lymphoma (9), malignant histiocytosis (8), hodgkin lymphoma (7), embryonal carcinoma (7), reticulosarcoma (7), pityriasis lichenoides et varioliformis acuta (6), cutaneous t cell lymphoma (6), lymphoma (6), mycosis fungoides (6), b-cell lymphomas (6), milker's nodule (5), seminoma (5), lymphoma, non-hodgkin (4), diffuse large b-cell lymphoma (4), histiocytosis (4), pityriasis lichenoides (4), adult t-cell leukemia (4), marek disease (3), t-cell/histiocyte rich large b cell lymphoma (3), ovarian solid teratoma (3), intratubular embryonal carcinoma (2), pfeiffer syndrome (2), persian gulf syndrome (2), hematologic cancer (2), reticulum cell sarcoma (2), hordeolum (2), sternum cancer (2), paraphimosis (2), amyotrophic lateral sclerosis 18 (2), follicular mucinosis (2), sezary's disease (2), testicular infarct (1), hodgkin's lymphoma, lymphocytic depletion (1), lymphatic system disease (1), ovarian embryonal carcinoma (1), mediastinal malignant lymphoma (1), mediastinal gray zone lymphoma (1), lung lymphoma (1), malignant leydig cell tumor (1), granulomatous myositis (1), lichen nitidus (1), colon lymphoma (1), conventional fibrosarcoma (1), epidural neoplasm (1), reticulohistiocytic granuloma (1), extragonadal seminoma (1), asthenopia (1), immune system organ benign neoplasm (1), thymus lipoma (1), leber congenital amaurosis (1), vulvitis (1), ecthyma (1), pediatric lymphoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.22 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 59.79 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -122.50296-0.414 Picture PostScript Text
3' UTR -696.101676-0.415 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001368 - TNFR/NGFR_Cys_rich_reg
IPR020416 - TNFR_8

Pfam Domains:
PF00020 - TNFR/NGFR cysteine-rich region

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on P28908
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0005031 tumor necrosis factor-activated receptor activity
GO:0048406 nerve growth factor binding

Biological Process:
GO:0006954 inflammatory response
GO:0006955 immune response
GO:0007165 signal transduction
GO:0007411 axon guidance
GO:0008285 negative regulation of cell proliferation
GO:0010977 negative regulation of neuron projection development
GO:0032496 response to lipopolysaccharide
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0042535 positive regulation of tumor necrosis factor biosynthetic process
GO:0043065 positive regulation of apoptotic process
GO:0045556 positive regulation of TRAIL biosynthetic process
GO:0071260 cellular response to mechanical stimulus
GO:0097190 apoptotic signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043005 neuron projection
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  M83554 - H.sapiens lymphocyte activation antigen CD30 mRNA, complete cds.
JD061947 - Sequence 42971 from Patent EP1572962.
JD237336 - Sequence 218360 from Patent EP1572962.
BC136400 - Homo sapiens tumor necrosis factor receptor superfamily, member 8, mRNA (cDNA clone MGC:168010 IMAGE:9020387), complete cds.
BC171762 - Homo sapiens cDNA clone IMAGE:9054415.
S75768 - CD30 antigen [human, Hodgkin's derived cell line L540, mRNA Partial Mutant, 1788 nt].
D86042 - Homo sapiens mRNA for variant CD30, complete cds.
BC063482 - Homo sapiens tumor necrosis factor receptor superfamily, member 8, mRNA (cDNA clone IMAGE:5219179), complete cds.
BC073839 - Homo sapiens tumor necrosis factor receptor superfamily, member 8, mRNA (cDNA clone IMAGE:5219187), partial cds.
JD209631 - Sequence 190655 from Patent EP1572962.
BC141804 - Homo sapiens tumor necrosis factor receptor superfamily, member 8, mRNA (cDNA clone IMAGE:40147247), partial cds.
JD516489 - Sequence 497513 from Patent EP1572962.
JD456591 - Sequence 437615 from Patent EP1572962.
JD203017 - Sequence 184041 from Patent EP1572962.
JD498506 - Sequence 479530 from Patent EP1572962.
JD278205 - Sequence 259229 from Patent EP1572962.
JD135068 - Sequence 116092 from Patent EP1572962.
JD426011 - Sequence 407035 from Patent EP1572962.
JD477204 - Sequence 458228 from Patent EP1572962.
JD489976 - Sequence 471000 from Patent EP1572962.
JD228804 - Sequence 209828 from Patent EP1572962.
JD467067 - Sequence 448091 from Patent EP1572962.
JD392432 - Sequence 373456 from Patent EP1572962.
JD067021 - Sequence 48045 from Patent EP1572962.
JD075591 - Sequence 56615 from Patent EP1572962.
JD254313 - Sequence 235337 from Patent EP1572962.
JD205708 - Sequence 186732 from Patent EP1572962.
JD375802 - Sequence 356826 from Patent EP1572962.
JD535586 - Sequence 516610 from Patent EP1572962.
JD225179 - Sequence 206203 from Patent EP1572962.
JD352402 - Sequence 333426 from Patent EP1572962.
JD172061 - Sequence 153085 from Patent EP1572962.
JD414250 - Sequence 395274 from Patent EP1572962.
JD187625 - Sequence 168649 from Patent EP1572962.
JD186218 - Sequence 167242 from Patent EP1572962.
JD321197 - Sequence 302221 from Patent EP1572962.
JD388572 - Sequence 369596 from Patent EP1572962.
JD243668 - Sequence 224692 from Patent EP1572962.
JD158130 - Sequence 139154 from Patent EP1572962.
JD501587 - Sequence 482611 from Patent EP1572962.
JD121386 - Sequence 102410 from Patent EP1572962.
JD098302 - Sequence 79326 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein P28908 (Reactome details) participates in the following event(s):

R-HSA-8856189 TNFSF8 binds TNFRSF8
R-HSA-5669034 TNFs bind their physiological receptors
R-HSA-5668541 TNFR2 non-canonical NF-kB pathway
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B1AN79, CD30, D1S166E, ENST00000263932.1, ENST00000263932.2, ENST00000263932.3, ENST00000263932.4, ENST00000263932.5, ENST00000263932.6, NM_001243, P28908, Q6P4D9, TNR8_HUMAN, uc001atq.1, uc001atq.2, uc001atq.3, uc001atq.4
UCSC ID: ENST00000263932.7
RefSeq Accession: NM_001243
Protein: P28908 (aka TNR8_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.