Alt. symbols: ZNFN1A3 | Aiolos

Approved name: IKAROS family zinc finger 3
Alt. names: zinc finger protein, subfamily 1A, 3 (Aiolos), IKAROS family zinc finger 3 (Aiolos)

Location: 17q21.1: 39757715 - 39864312 (-)
Gene type: protein_coding, 17 transcripts.

Scores: LoFtool: 0.116000 | pLI: 0.99492179 | LOEUF: 0.294

HGNC: 13178

NCBI: 22806, RefSeq: NG_029104.2

Ensembl: ENSG00000161405.18

LRG_ | Status: none

OMIM: 606221

Expression | ProteinAtlas

This gene encodes a protein known as Aiolos that belongs to the ikaros family of transcription factors. There are three members of this family (Ikaros, Aiolos and Helios) that support lymphocyte development; in particular, Aiolos is important in the maturation and proliferation of B-cells. Their mode of action is not yet clear, however, this protein may influence chromatin remodeling and participate in multimerization. Aiolos seems to be involved in regulating BCL2 expression and controlling apoptosis in T-cells in an IL2-dependent manner.

Yamashita et al. (2021, PMID:34155405) and Kuehn et al. (2021, PMID:34694366) recently reported two families carrying a novel missense mutation in AIOLOS (p.N160S), which is equivalent to the previously known p.N159S mutation in IKAROS. The patients presented with recurrent respiratory infections including PJP, hypogammaglobulinemia, low number of memory B cells and failure to thrive. In vitro studies suggested a dominant negative effect of the AIOLOS-N160S mutant over AIOLOS-WT for DNA binding when overexpressed together. This mutation also seems to lead to abnormal B-cell proliferation, and abnormal B- and T-cell differentiation. Affected carriers also displayed increased numbers of CD21 low cells. More recently, additional individuals with LOF variants leading to AIOLOS haploinsufficiency have been described (2024, PMID:38015619) [Load More]