Gene Gene information from NCBI Gene database.
Entrez ID 943
Gene name TNF receptor superfamily member 8
Gene symbol TNFRSF8
Synonyms (NCBI Gene)
CD30D1S166EKi-1
Chromosome 1
Chromosome location 1p36.22
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 th
miRNA miRNA information provided by mirtarbase database.
99
miRTarBase ID miRNA Experiments Reference
MIRT719567 hsa-miR-4738-5p HITS-CLIP 19536157
MIRT719566 hsa-miR-600 HITS-CLIP 19536157
MIRT719565 hsa-miR-4297 HITS-CLIP 19536157
MIRT719564 hsa-miR-5581-5p HITS-CLIP 19536157
MIRT719563 hsa-miR-6512-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 12777399
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004888 Function Transmembrane signaling receptor activity TAS 1310894
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
153243 11923 ENSG00000120949
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28908
Protein name Tumor necrosis factor receptor superfamily member 8 (CD30L receptor) (Ki-1 antigen) (Lymphocyte activation antigen CD30) (CD antigen CD30)
Protein 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). {ECO:0000269|PubMed:83919
PDB 1D01
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00020 TNFR_c6 108 149 TNFR/NGFR cysteine-rich region Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 2]: Detected in alveolar macrophages (at protein level). {ECO:0000269|PubMed:8839832}.
Sequence
MRVLLAALGLLFLGALRAFPQDRPFEDTCHGNPSHYYDKAVRRCCYRCPMGLFPTQQCPQ
RPTDCRKQCEPDYYLDEADRCTACVTCSRDDLVEKTPCAWNSSRVCECRPGMFCSTSAVN
SCARCFFHSVCPAGMIVKFPGTAQKNTVC
EPASPGVSPACASPENCKEPSSGTIPQAKPT
PVSPATSSASTMPVRGGTRLAQEAASKLTRAPDSPSSVGRPSSDPGLSPTQPCPEGSGDC
RKQCEPDYYLDEAGRCTACVSCSRDDLVEKTPCAWNSSRTCECRPGMICATSATNSCARC
VPYPICAAETVTKPQDMAEKDTTFEAPPLGTQPDCNPTPENGEAPASTSPTQSLLVDSQA
SKTLPIPTSAPVALSSTGKPVLDAGPVLFWVILVLVVVVGSSAFLLCHRRACRKRIRQKL
HLCYPVQTSQPKLELVDSRPRRSSTQLRSGASVTEPVAEERGLMSQPLMETCHSVGAAYL
ESLPLQDASPAGGPSSPRDLPEPRVSTEHTNNKIEKIYIMKADTVIVGTVKAELPEGRGL
AGPAEPELEEELEADHTPHYPEQETEPPLGSCSDVMLSVEEEGKEDPLPTAASGK
Sequence length 595
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction   TNFs bind their physiological receptors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, EMBRYONAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 23654079
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 9600114
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 11488062
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 23937105
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 23937105
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 12459631, 14726824, 23343832, 26340843, 27443517, 27592544, 27816715, 27868471, 28035754, 28521633, 29666157, 30962205, 31335688
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 10570745, 10845927, 11004694, 11418184, 11727269, 12670918, 12875982, 12939740, 15933052, 16108827, 16108830, 16140928, 16152613, 16198418, 17261581
View all (34 more)
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma CTD_human_DG 12453859, 16879607
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 1323224, 19864230, 29166501, 30068708, 7866279
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia LHGDN 15876358
★☆☆☆☆
Found in Text Mining only