IKZF5
Domain
The N-terminal zinc fingers are involved in sequence-specific DNA binding and heterotypic associations with other family members.
C-terminal zinc fingers mediate homodimerization.
Function
Transcriptional repressor that binds the core 5'GNNTGTNG-3' DNA consensus sequence (PubMed:10978333, PubMed:31217188). Involved in megakaryocyte differentiation.
Involvement in disease
Thrombocytopenia 7
THC7
A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC7 is an autosomal dominant form with highly variable severity, ranging from absence of bleeding symptoms to epistaxis or more severe bleeding episodes.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Ikaros C2H2-type zinc-finger protein family.
Tissue Specificity
Expressed in brain, heart, skeletal muscle, kidney, and liver. Expressed in the hematopoietic cell lines MOLT-4, NALM-6 and K-562. Highly expressed in THP-1 and M-07e cell lines, which have characteristics of myeloid and early megakaryocytic cells respectively.
Cellular localization
- Nucleus
Alternative names
ZNFN1A5, IKZF5, Zinc finger protein Pegasus, Ikaros family zinc finger protein 5