CD27 gene

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.

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]

Cytogenetic Location: 12p13, which is the short (p) arm of chromosome 12 at position 13

Molecular Location: base pairs 6,444,867 to 6,451,718 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

• S152
• S152. LPFS2
• T14
• TNFRSF7
• Tp55