Tumor Necrosis Factor Receptor Superfamily, Member 8

Alternative Names

  • TNFRSF8
  • Lymphoid Activation Antigen CD30
  • CD30
Back to search Result
OMIM Number

153243

NCBI Gene ID

943

Uniprot ID

P28908

Length

80,911 bases

No. of Exons

16

No. of isoforms

3

Protein Name

Tumor necrosis factor receptor superfamily member 8

Molecular Mass

63747 Da

Amino Acid Count

595

Genomic Location

chr1:12,063,302-12,144,212

Gene Map Locus
1p36.22

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001243.5:c.1511G>ALebanonNC_000001.11:g.12138404G>AUncertain SignificanceNG_029573.2:g.80028G>A; NM_001243.5:c.1511G>A; NP_001234.3:p.Arg504Gln2230627
© CAGS 2024. All rights reserved.