AlphaFold predicted structure
IKZF1 · Q13422
Mean pLDDT
47.8/ 100
Very low
519 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)15%
- Low(50–70)27%
- Very low(< 50)58%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
IKZF1
Chr 7p12.2IKAROS family zinc finger 1
- Aliases:
- hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92
- MANE:
- ENST00000331340.8
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
COVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHaematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPrimary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCytopenias and congenital anaemias
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
pancytopenia due to IKZF1 mutations
0.80acute lymphoblastic leukemia
0.66immunodeficiency disease
0.50B-cell acute lymphoblastic leukemia
0.50acute myeloid leukemia
0.45cutaneous melanoma
0.43systemic lupus erythematosus
0.40Crohn disease
0.39melanoma
0.39lung carcinoma
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
DNA-binding protein Ikaros
Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs) (By similarity). Function is isoform-specific and is modulated by dominant-negative inactive isoforms (PubMed:17135265, PubMed:17934067)
Diseases associated with IKZF1
Curated MONDO disease pages that list IKZF1 among their top associated genes.