SPSB2

Description

The SPSB2 (splA/ryanodine receptor domain and SOCS box containing 2) is a protein-coding gene located on chromosome 12.

SPSB2 acts as a substrate recognition component within the Elongin BC-CUL2/5-SOCS-box protein (ECS) E3 ubiquitin ligase complex. This complex facilitates the ubiquitination and subsequent degradation of target proteins via the proteasome. SPSB2 plays a crucial role in negatively regulating nitric oxide (NO) production by promoting the ubiquitination and degradation of NOS2, an enzyme responsible for NO synthesis. This action limits cellular toxicity in activated macrophages. SPSB2 acts as a bridge connecting NOS2 to the ECS complex components ELOC and CUL5.

SPSB2 is also known as GRCC9, SSB2.

Associated Diseases

• hyperopia
• colorectal cancer
• refractive error
• macrothrombocytopenia, isolated, 2, autosomal dominant
• thrombocytopenia 4
• thrombocytopenia 7
• autosomal dominant macrothrombocytopenia
• beta-thalassemia-X-linked thrombocytopenia syndrome
• platelet-type bleeding disorder 9
• platelet-type bleeding disorder 15