This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ika... See more...

Aliases for IKZF3 Gene

Aliases for IKZF3 Gene

  • IKAROS Family Zinc Finger 3 2 3 5
  • Zinc Finger Protein, Subfamily 1A, 3 (Aiolos) 2 3
  • Zinc Finger Protein Aiolos 3 4
  • ZNFN1A3 3 4
  • Zinc Finger DNA Binding Protein Aiolos 3
  • IKAROS Family Zinc Finger 3 (Aiolos) 2
  • Ikaros Family Zinc Finger Protein 3 4
  • AIOLOS 3
  • AIO 3

External Ids for IKZF3 Gene

Previous HGNC Symbols for IKZF3 Gene

  • ZNFN1A3

Previous GeneCards Identifiers for IKZF3 Gene

  • GC17M035175
  • GC17M037913
  • GC17M033714
  • GC17M037921

Summaries for IKZF3 Gene

Entrez Gene Summary for IKZF3 Gene

  • This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]

GeneCards Summary for IKZF3 Gene

IKZF3 (IKAROS Family Zinc Finger 3) is a Protein Coding gene. Diseases associated with IKZF3 include Leukemia, Chronic Lymphocytic and B-Cell Adult Acute Lymphocytic Leukemia. Among its related pathways are NF-kappaB Signaling and IL-2 Signaling Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is IKZF1.

UniProtKB/Swiss-Prot Summary for IKZF3 Gene

  • Transcription factor that plays an important role in the regulation of lymphocyte differentiation. Plays an essential role in regulation of B-cell differentiation, proliferation and maturation to an effector state. Involved in regulating BCL2 expression and controlling apoptosis in T-cells in an IL2-dependent manner.

Gene Wiki entry for IKZF3 Gene

Additional gene information for IKZF3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IKZF3 Gene

Genomics for IKZF3 Gene

GeneHancer (GH) Regulatory Elements for IKZF3 Gene

Promoters and enhancers for IKZF3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J039859 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 750.6 -0.1 -117 9.7 SP1 CTCF MLX RBPJ POLR2A USF2 NR2F1 MIXL1 JUND MYC IKZF3 ZPBP2 GSDMB ORMDL3 GSDMA LRRC3C SNORD124 MSL1 MED24 PGAP3
GH17J039839 Promoter/Enhancer 0.5 EPDnew dbSUPER 762.3 +24.7 24719 0.1 IKZF3 ENSG00000226117 RPL39P4 ZPBP2 LRRC3C ORMDL3 GSDMA
GH17J039753 Promoter/Enhancer 2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 14.8 +107.7 107718 7.1 ZNF24 SP1 CTCF ZBTB6 FOXA1 RBPJ POLR2A TCF7L2 NR2F1 MIXL1 CDK12 GSDMB MED1 ORMDL3 MED24 IKZF3 RARA RPL19 SMARCE1 TOP2A
GH17J040306 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.3 -453.4 -453354 23.1 SIN3A ZNF24 SP1 ZBTB40 CTCF SREBF1 ZBTB6 LCORL RBPJ SMARCE1 RARA ENSG00000287644 MED1 CDK12 SNORD124 SMARCE1 MSL1 MED24 TOP2A CCR7
GH17J039790 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 16.4 +70.8 70811 6.6 ZNF24 SP1 ETV6 RELA CEBPB ZNF121 MLLT1 ZNF687 CREM ZBED1 GSDMB GSDMA IKZF3 LRRC3C ZPBP2 GRB7 MIEN1 ORMDL3 PGAP3 ERBB2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IKZF3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IKZF3 gene promoter:
  • AML1a
  • ATF-2
  • E2F
  • FAC1
  • MAZR
  • Pax-5
  • RORalpha2
  • SRF
  • SRF (504 AA)

Genomic Locations for IKZF3 Gene

Genomic Locations for IKZF3 Gene
chr17:39,757,715-39,864,312
(GRCh38/hg38)
Size:
106,598 bases
Orientation:
Minus strand
chr17:37,921,198-38,020,441
(GRCh37/hg19)
Size:
99,244 bases
Orientation:
Minus strand

Genomic View for IKZF3 Gene

Genes around IKZF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IKZF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IKZF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IKZF3 Gene

Proteins for IKZF3 Gene

  • Protein details for IKZF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKT9-IKZF3_HUMAN
    Recommended name:
    Zinc finger protein Aiolos
    Protein Accession:
    Q9UKT9
    Secondary Accessions:
    • B4DVV5
    • Q69BL6
    • Q69BL7
    • Q69BL8
    • Q69BL9
    • Q69BM0
    • Q69BM1
    • Q69BM2
    • Q69BM3
    • Q69BM5
    • Q8N574
    • Q8WWQ9
    • Q8WWR0
    • Q8WWR1
    • Q8WWR2
    • Q8WWR3

    Protein attributes for IKZF3 Gene

    Size:
    509 amino acids
    Molecular mass:
    58023 Da
    Quaternary structure:
    • Homodimer, and heterodimer with other IKAROS family members. Interacts with IKZF4 AND IKZF5. Interacts with IKZF1. Interacts with HRAS. Interacts with FOXP3; this interaction may be required for silencing target genes and regulating the suppressive activity of FOXP3-positive regulatory T-cells (Treg). Interacts with BCL21L isoform Bcl-X(L); this interaction blocks the anti-apoptotic role of BCL21L. Associates with histone deacetylase complexes containing HDAC1, MTA2 and SIN3A.

neXtProt entry for IKZF3 Gene

Post-translational modifications for IKZF3 Gene

  • Phosphorylation on tyrosine residues induced by IL2 is required for dissociation from HRAS and nuclear translocation of IKZF3 in T-cells. Phosphorylation on tyrosine residues induced by IL4 is required for dissociation from Bcl-X(L) in T-cells.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for IKZF3

No data available for DME Specific Peptides for IKZF3 Gene

Domains & Families for IKZF3 Gene

Gene Families for IKZF3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for IKZF3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IKZF3 Gene

GenScript: Design optimal peptide antigens:
  • Ikaros family zinc finger protein 3 (IKZF3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKT9

UniProtKB/Swiss-Prot:

IKZF3_HUMAN :
  • Belongs to the Ikaros C2H2-type zinc-finger protein family.
Family:
  • Belongs to the Ikaros C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with IKZF3: view

Function for IKZF3 Gene

Molecular function for IKZF3 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that plays an important role in the regulation of lymphocyte differentiation. Plays an essential role in regulation of B-cell differentiation, proliferation and maturation to an effector state. Involved in regulating BCL2 expression and controlling apoptosis in T-cells in an IL2-dependent manner.
UniProtKB/Swiss-Prot Induction:
Up-regulated by TGFB1 and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) in activated AHR T-cells.

Phenotypes From GWAS Catalog for IKZF3 Gene

Gene Ontology (GO) - Molecular Function for IKZF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with IKZF3: view
genes like me logo Genes that share phenotypes with IKZF3: view

Animal Models for IKZF3 Gene

MGI Knock Outs for IKZF3:

Animal Model Products

CRISPR Products

miRNA for IKZF3 Gene

miRTarBase miRNAs that target IKZF3

Clone Products

  • Addgene plasmids for IKZF3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IKZF3 Gene

Localization for IKZF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IKZF3 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IKZF3 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IKZF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10369681
GO:0005654 nucleoplasm IBA,IDA --
GO:0005737 cytoplasm IEA,IDA 10369681
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with IKZF3: view

Pathways & Interactions for IKZF3 Gene

PathCards logo

SuperPathways for IKZF3 Gene

genes like me logo Genes that share pathways with IKZF3: view

Pathways by source for IKZF3 Gene

1 BioSystems pathway for IKZF3 Gene
1 Cell Signaling Technology pathway for IKZF3 Gene

SIGNOR curated interactions for IKZF3 Gene

Activates:

Gene Ontology (GO) - Biological Process for IKZF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II TAS 10552935
GO:0007498 mesoderm development TAS 10552935
GO:0009617 response to bacterium IEA --
GO:0030888 regulation of B cell proliferation ISS --
GO:0042113 B cell activation IEA --
genes like me logo Genes that share ontologies with IKZF3: view

Drugs & Compounds for IKZF3 Gene

(1) Drugs for IKZF3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with IKZF3: view

Transcripts for IKZF3 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for IKZF3

Alternative Splicing Database (ASD) splice patterns (SP) for IKZF3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c
SP1: - -
SP2: - - -
SP3: - - -
SP4: - - - -
SP5: - - - -
SP6: - - - - -
SP7: - - - - -
SP8: - - - -
SP9: - - - -
SP10: - - - -
SP11: - -
SP12: - - - - - -
SP13: - - - - - -
SP14: - - - - -
SP15: - - - - -
SP16: - - - - - - -
SP17: -

Relevant External Links for IKZF3 Gene

GeneLoc Exon Structure for
IKZF3
ECgene alternative splicing isoforms for
IKZF3

Expression for IKZF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IKZF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IKZF3 Gene

This gene is overexpressed in Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for IKZF3 Gene

This gene is overexpressed in Blymphocyte (23.4), CD8 Tcells (20.0), Peripheral blood mononuclear cells (13.8), and NK cells (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IKZF3 Gene



Protein tissue co-expression partners for IKZF3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IKZF3 Gene:

IKZF3

SOURCE GeneReport for Unigene cluster for IKZF3 Gene:

Hs.371680

mRNA Expression by UniProt/SwissProt for IKZF3 Gene:

Q9UKT9-IKZF3_HUMAN
Tissue specificity: Expressed most strongly in peripheral blood leukocytes, the spleen, and the thymus.

Evidence on tissue expression from TISSUES for IKZF3 Gene

  • Spleen(4.5)
  • Liver(4.1)
  • Blood(2.4)
genes like me logo Genes that share expression patterns with IKZF3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IKZF3 Gene

Orthologs for IKZF3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IKZF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IKZF3 33 32
  • 99.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IKZF3 33 32
  • 92.99 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IKZF3 33 32
  • 91.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ikzf3 17 33 32
  • 86.19 (n)
rat
(Rattus norvegicus)
Mammalia Ikzf3 32
  • 86.02 (n)
oppossum
(Monodelphis domestica)
Mammalia IKZF3 33
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IKZF3 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIOLOS 33
  • 75 (a)
OneToOne
IKZF3 32
  • 74.27 (n)
lizard
(Anolis carolinensis)
Reptilia IKZF3 33
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ikzf3 32
  • 62.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10790 33
  • 25 (a)
OneToMany
Species where no ortholog for IKZF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IKZF3 Gene

ENSEMBL:
Gene Tree for IKZF3 (if available)
TreeFam:
Gene Tree for IKZF3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IKZF3: view image

Paralogs for IKZF3 Gene

(14) SIMAP similar genes for IKZF3 Gene using alignment to 2 proteins:

  • IKZF3_HUMAN
  • B4DVV5_HUMAN
genes like me logo Genes that share paralogs with IKZF3: view

Variants for IKZF3 Gene

Sequence variations from dbSNP and Humsavar for IKZF3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000024296 -- 39,797,369(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000034861 -- 39,803,637(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000106607 -- 39,803,797(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000121134 -- 39,830,224(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000123956 -- 39,769,884(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IKZF3 Gene

Variant ID Type Subtype PubMed ID
esv1009212 CNV deletion 20482838
esv1483215 CNV deletion 17803354
esv2659729 CNV deletion 23128226
esv2715904 CNV deletion 23290073
esv3640548 CNV loss 21293372
nsv1070404 CNV deletion 25765185
nsv1116523 OTHER inversion 24896259
nsv1121720 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv978421 CNV duplication 23825009

Variation tolerance for IKZF3 Gene

Residual Variation Intolerance Score: 19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IKZF3 Gene

Human Gene Mutation Database (HGMD)
IKZF3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IKZF3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IKZF3 Gene

Disorders for IKZF3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for IKZF3 Gene - From: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
leukemia, chronic lymphocytic
  • cll
b-cell adult acute lymphocytic leukemia
  • adult b acute lymphoblastic leukemia
myeloma, multiple
  • multiple myeloma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search IKZF3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IKZF3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with IKZF3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IKZF3 Gene

Publications for IKZF3 Gene

  1. Human aiolos, an ikaros-related zinc finger DNA binding protein: cDNA cloning, tissue expression pattern, and chromosomal mapping. (PMID: 10552935) Hosokawa Y … Seto M (Genomics 1999) 2 3 4 23 56
  2. Combinatorial effects of splice variants modulate function of Aiolos. (PMID: 17646674) Caballero R … Ballestar E (Journal of cell science 2007) 3 4 23 56
  3. Both normal and leukemic B lymphocytes express multiple isoforms of the human Aiolos gene. (PMID: 11745366) Liippo J … Lassila O (European journal of immunology 2001) 3 4 23 56
  4. Eos and pegasus, two members of the Ikaros family of proteins with distinct DNA binding activities. (PMID: 10978333) Perdomo J … Crossley M (The Journal of biological chemistry 2000) 3 4 23 56
  5. Aiolos transcription factor controls cell death in T cells by regulating Bcl-2 expression and its cellular localization. (PMID: 10369681) Romero F … Rebollo A (The EMBO journal 1999) 3 4 23 56

Products for IKZF3 Gene