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IRF2BP2

Domain

The C-terminal RING-type zinc finger domain is sufficient for interaction with IRF2.

Function

Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities (PubMed:12799427). Represses the NFAT1-dependent transactivation of NFAT-responsive promoters (PubMed:21576369). Acts as a coactivator of VEGFA expression in cardiac and skeletal muscles (PubMed:20702774). Plays a role in immature B-cell differentiation (PubMed:27016798).

Involvement in disease

Immunodeficiency, common variable, 14

CVID14

A primary immunodeficiency resulting in recurrent sinopulmonary infections since early childhood, and characterized by hypogammaglobulinemia with undetectable IgG and IgA, poor response to vaccination, and decreased levels of switched memory B cells. CVID14 inheritance is autosomal dominant.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylation at Ser-360 is required for nuclear targeting.

Sequence Similarities

Belongs to the IRF2BP family.

Cellular localization

Alternative names

Interferon regulatory factor 2-binding protein 2, IRF-2-binding protein 2, IRF-2BP2, IRF2BP2

swissprot:Q7Z5L9 entrezGene:359948 omim:615332