CD27 gene
CD27 molecule
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]
From UniProt:
Receptor for CD70/CD27L. May play a role in survival of activated T-cells. May play a role in apoptosis through association with SIVA1.
Related Information
From NCBI Gene:
- Lymphoproliferative syndrome 2
From UniProt:
Lymphoproliferative syndrome 2 (LPFS2): An autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired T-cell-dependent B-cell responses and T-cell dysfunction. The phenotype is highly variable, ranging from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation. [MIM:615122]
Related Information
Cytogenetic Location: 12p13.31, which is the short (p) arm of chromosome 12 at position 13.31
Molecular Location: base pairs 6,444,867 to 6,451,718 on chromosome 12 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)
Related Information
- S152
- S152. LPFS2
- T14
- TNFRSF7
- Tp55