IKZF5 Gene - Ikaros Family Zinc Finger Protein 5
Transcriptional regulator in hematopoiesis and immune cell development
Gene Information Card
| Symbol | IKZF5 |
|---|---|
| Full Name | Ikaros family zinc finger protein 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.13 |
| NCBI Gene ID | 64376 ncbi.nlm.nih.gov/gene/64376 |
| Ensembl ID | ENSG00000120068 |
| UniProt ID | Q9H5V9 |
| OMIM ID | 606238 |
| HGNC ID | 13178 |
| Aliases | ZNFN1A5, IKAROS family zinc finger 5, Pegasus |
Description
IKZF5 (Ikaros family zinc finger protein 5) encodes a transcription factor belonging to the Ikaros family of zinc finger proteins. It is involved in the regulation of gene expression during hematopoiesis, particularly in lymphoid and myeloid cell development. IKZF5 binds to specific DNA sequences via its N-terminal zinc finger domains and can repress or activate transcription. It is expressed in various hematopoietic tissues and plays a role in immune cell differentiation and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute lymphoblastic leukemia (ALL) | IKZF5 mutations may disrupt transcriptional regulation of lymphoid development, contributing to leukemogenesis. | COSMIC, ClinVar |
| Multiple myeloma | Altered IKZF5 expression or function may affect plasma cell differentiation and survival. | COSMIC |
| Immunodeficiency | Loss-of-function variants in IKZF5 can impair lymphocyte development and immune response. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Thymus | 10.1 | Medium |
| Lymph node | 7.6 | Low |
| Peripheral blood mononuclear cells | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (chronic myeloid leukemia) | 15.2 | High expression |
| Jurkat (T-cell leukemia) | 11.4 | Medium expression |
| Raji (Burkitt lymphoma) | 9.1 | Low expression |
| HL-60 (promyelocytic leukemia) | 13.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | Rare | May alter DNA-binding affinity |
| c.250_251del (p.Leu84fs) | Frameshift | Rare | Loss of function |
| c.400G>A (p.Glu134Lys) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt zinc finger domains are predicted to cause loss of function, impairing transcriptional regulation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for IKZF5.
Dominant Negative (DN)
Some missense mutations in the DNA-binding domain may act in a dominant-negative manner by interfering with wild-type IKZF5 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hematopoietic cell lineage (KEGG: hsa04640)
• Transcriptional misregulation in cancer (KEGG: hsa05202)
• Ikaros family transcription factor network
Protein Summary
IKZF5 is a 488-amino acid protein with N-terminal zinc finger domains that mediate sequence-specific DNA binding and C-terminal domains involved in protein-protein interactions. It functions as a transcriptional regulator, repressing or activating target genes involved in hematopoietic cell development and differentiation. The protein is predominantly nuclear and is expressed in hematopoietic tissues. Mutations in IKZF5 are associated with hematologic malignancies and immune disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IKZF5 Knockout HEK293 Cell Line | EDJ-KQ13823 | Human | 64376 | Details Get a Quote |
| IKZF5 Knockout A-549 Cell Line | EDJ-KQ43644 | Human | 64376 | Details Get a Quote |
| IKZF5 Knockout HCT 116 Cell Line | EDJ-KQ43645 | Human | 64376 | Details Get a Quote |
| IKZF5 Knockout HeLa Cell Line | EDJ-KQ43646 | Human | 64376 | Details Get a Quote |
