CD27 Gene

The CD27 gene is a protein coding (CD27 molecule) gene located on chromosome 12p13.31. The protein encoded by the CD27 gene(CD27 protein) is a member of the TNF receptor superfamily. This receptor is required for the establishment and long-term maintenance of T cell immunity. It binds to its ligand CD70 and plays a key role in regulating B-cell activation and immunoglobulin synthesis.

The activated receptor transduces signals (CD27/70 pathway) leading to activation of NF-kappaB and MAPK8/JNK. The 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 apoptosis triggered by this receptor.

Diseases associated with CD27 include:

• lymphoproliferative syndrome type 2

1. Cohen JI (2015). Primary immunodeficiencies associated with EBV disease. Curr Top Microbiol Immunol 390:241-265.
2. Salzer E et al (2013) Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. Haematologica 98: 473-478.
3. Seidel MG (2012) CD27: a new player in the field of common variable immunodeficiency and EBV-associated lymphoproliferative disorder? (Letter) J Allergy Clin Immun. 129: 1175.
4. van Montfrans J et al. (2012) CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J Allergy Clin Immun 129: 787-793.