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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IKZF3
IKAROS family zinc finger 3
Chromosome 17 Β· 17q12-q21.1
NCBI Gene: 22806Ensembl: ENSG00000161405.18HGNC: HGNC:13178UniProt: Q9UKT9
118PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of apoptotic processDNA-binding transcription activator activity, RNA polymerase II-specificnucleoplasmcytoplasmimmunodeficiency 84chronic lymphocytic leukemianeurodegenerative diseasecutaneous melanoma
✦AI Summary

IKZF3 (IKAROS family zinc finger 3) encodes a transcription factor that plays essential roles in B-cell biology and immune regulation. The protein serves as a critical dependency factor in multiple myeloma cells, where its selective degradation by lenalidomide through the CRBN-CRL4 ubiquitin ligase represents a key therapeutic mechanism 1 2. IKZF3 functions in conjunction with IKZF1 as targets for immunomodulatory drugs, with their degradation being both necessary and sufficient for lenalidomide's therapeutic effects 2. In regulatory T cells, IKZF3 associates with Foxp3 and IKZF1 to form a complex that competes with co-activators like p300 for chr17 binding, thereby mediating gene repression and maintaining immune homeostasis 3. The protein is recurrently mutated in hematologic malignancies, including chr17 lymphocytic leukemia and hypodiploid acute lymphoblastic leukemia 4 5. Additionally, IKZF3 serves as a target for novel therapeutic approaches, including dual BTK/IKZF1/3 degraders like NX-2127, which demonstrate clinical efficacy in B-cell malignancies 6. These findings establish IKZF3 as a crucial transcriptional regulator whose modulation represents an important therapeutic strategy in hematologic cancers.

Sources cited
1
Lenalidomide causes selective degradation of IKZF3 by CRBN-CRL4 ubiquitin ligase in multiple myeloma
PMID: 24292625
2
IKZF3 degradation is necessary and sufficient for lenalidomide's therapeutic effect in myeloma
PMID: 24292623
3
IKZF3 associates with Foxp3 to mediate gene repression in regulatory T cells
PMID: 39111316
4
IKZF3 is recurrently mutated in chronic lymphocytic leukemia
PMID: 26466571
5
IKZF3 alterations occur in hypodiploid acute lymphoblastic leukemia
PMID: 23334668
6
IKZF3 is targeted by clinical-stage degrader NX-2127 for B-cell malignancy treatment
PMID: 38301010
Disease Associationsβ“˜21
immunodeficiency 84Open Targets
0.63Moderate
chronic lymphocytic leukemiaOpen Targets
0.44Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
cutaneous melanomaOpen Targets
0.37Weak
prostate adenocarcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
HER2 Positive Breast CarcinomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
skin carcinomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
diffuse large B-cell lymphomaOpen Targets
0.34Weak
asthmaOpen Targets
0.32Weak
head and neck squamous cell carcinomaOpen Targets
0.30Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.29Weak
breast carcinomaOpen Targets
0.29Weak
Immunodeficiency 84UniProt
Pathogenic Variants2
NM_012481.5(IKZF3):c.1_7delATGGAAG (p.Met1fs)Likely pathogenic
Immunodeficiency 84
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_012481.5(IKZF3):c.475G>C (p.Gly159Arg)Pathogenic
Immunodeficiency 84
β˜†β˜†β˜†β˜†2021β†’ Residue 159
View on ClinVar β†—
Related Genes
CUL4AProtein interaction100%FOXP3Protein interaction100%RUNX1Protein interaction96%GSDMBProtein interaction96%ZPBP2Protein interaction94%ORMDL3Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
64%
Liver
23%
Brain
12%
Heart
8%
Ovary
5%
Gene Interaction Network
Click a node to explore
IKZF3CUL4AFOXP3RUNX1GSDMBZPBP2ORMDL3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UKT9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.24Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.11 [0.05–0.24]
RankingsWhere IKZF3 stands among ~20K protein-coding genes
  • #3,994of 20,598
    Most Researched118 Β· top quartile
  • #4,293of 5,498
    Most Pathogenic Variants2
  • #728of 17,882
    Most Constrained (LOEUF)0.24 Β· top 5%
Genes detectedIKZF3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Lenalidomide causes selective degradation of IKZF1 and IKZF3 in multiple myeloma cells.
PMID: 24292625
Science Β· 2014
1.00
2
The myeloma drug lenalidomide promotes the cereblon-dependent destruction of Ikaros proteins.
PMID: 24292623
Science Β· 2014
0.90
3
Structure of the DDB1-CRBN E3 ubiquitin ligase in complex with thalidomide.
PMID: 25043012
Nature Β· 2014
0.80
4
Transcription factor Ikzf1 associates with Foxp3 to repress gene expression in Treg cells and limit autoimmunity and anti-tumor immunity.
PMID: 39111316
Immunity Β· 2024
0.70
5
Induced protein degradation for therapeutics: past, present, and future.
PMID: 38165043
J Clin Invest Β· 2024
0.60