ASB2
Description
The ASB2 (ankyrin repeat and SOCS box containing 2) is a protein-coding gene located on chromosome 14.
ASB2, or Ankyrin repeat and SOCS box protein 2, is a protein encoded by the ASB2 gene in humans. It belongs to the ASB family of proteins and features an ankyrin repeat sequence and a SOCS box domain. The SOCS box facilitates protein degradation by linking SOCS proteins with the elongin B and C complex. ASB2 expression is triggered by all-trans retinoic acid, and in myeloid leukemia cells, its expression inhibits growth and promotes chromatin condensation. Multiple splice variants of ASB2 have been described, but their full sequences are not known.
ASB2 acts as a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex. This complex mediates the ubiquitination and subsequent proteasomal degradation of target proteins. ASB2 is involved in Notch-induced ubiquitination and degradation of substrates including TCF3/E2A and JAK2. ASB2 is essential for complete heart looping during embryonic heart development and is required for cardiomyocyte differentiation.
ASB2 is also known as ASB-2.
Associated Diseases
- 22q11.2 deletion syndrome
- immunodeficiency 19
- immunodeficiency 18
- agammaglobulinemia 7, autosomal recessive
- combined immunodeficiency with skin granulomas
- common variable immunodeficiency
- X-linked severe congenital neutropenia
- T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
- immunodeficiency 67
