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IKZF3

Domain

C2H2-type 5 and C2H2-type 6 mediate homodimerization and heterodimerization.

Function

Transcription factor that plays an important role in the regulation of lymphocyte differentiation. Plays an essential role in regulation of B-cell differentiation, proliferation and maturation to an effector state. Involved in regulating BCL2 expression and controlling apoptosis in T-cells in an IL2-dependent manner.

Involvement in disease

Immunodeficiency 84

IMD84

An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. There may also be variable T-cell abnormalities. Patients have increased susceptibility to infection with Epstein-Barr virus and a propensity for the development of lymphoma in adulthood.

None

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

Post-translational modifications

Phosphorylation on tyrosine residues induced by IL2 is required for dissociation from HRAS and nuclear translocation of IKZF3 in T-cells. Phosphorylation on tyrosine residues induced by IL4 is required for dissociation from Bcl-X(L) in T-cells.

Sequence Similarities

Belongs to the Ikaros C2H2-type zinc-finger protein family.

Tissue Specificity

Expressed most strongly in peripheral blood leukocytes, the spleen, and the thymus.

Cellular localization

Alternative names

ZNFN1A3, IKZF3, Zinc finger protein Aiolos, Ikaros family zinc finger protein 3

swissprot:Q9UKT9 omim:606221 entrezGene:22806