IKZF5

Chr 10q26.13

IKAROS family zinc finger 5

Aliases:: Pegasus, FLJ22973
MANE:: ENST00000368886.10

OMIM: 606238 ↗NCBI: 64376 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

IKZF5 · Q9H5V7

v62025-08-01

Predicted Aligned Error matrix for IKZF5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

53.0/ 100

Low

419 residues

Confidence breakdown

Very high(≥ 90)13%
Confident(70–90)20%
Low(50–70)12%
Very low(< 50)55%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited bleeding disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

thrombocytopenia 7
0.58
Thrombocytopenia
0.47
autosomal thrombocytopenia with normal platelets
0.37
2-methylbutyryl-CoA dehydrogenase deficiency
0.15
mitochondrial complex I deficiency
0.12
mitochondrial complex I deficiency, nuclear type 29
0.12
dentin dysplasia
0.05
bone Paget disease
0.04
X-linked osteoporosis with fractures
0.04
pyknoachondrogenesis
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Zinc finger protein Pegasus

Transcriptional repressor that binds the core 5'GNNTGTNG-3' DNA consensus sequence (PubMed:10978333, PubMed:31217188). Involved in megakaryocyte differentiation