Human Gene IKZF3 (ENST00000394189.6) Description and Page Index
  Description: Homo sapiens IKAROS family zinc finger 3 (IKZF3), transcript variant 11, mRNA. (from RefSeq NM_001257412)
RefSeq Summary (NM_001257412): 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].
Gencode Transcript: ENST00000394189.6
Gencode Gene: ENSG00000161405.17
Transcript (Including UTRs)
   Position: hg38 chr17:39,765,284-39,864,188 Size: 98,905 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr17:39,765,790-39,864,126 Size: 98,337 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:39,765,284-39,864,188)mRNA (may differ from genome)Protein (327 aa)
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Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: IKZF3_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein Aiolos; AltName: Full=Ikaros family zinc finger protein 3;
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.
SUBUNIT: 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.
INTERACTION: Q9BZS1:FOXP3; NbExp=2; IntAct=EBI-747204, EBI-983719;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
TISSUE SPECIFICITY: Expressed most strongly in peripheral blood leukocytes, the spleen, and the thymus.
INDUCTION: Up-regulated by TGFB1 and 2,3,7,8-tetrachlorodibenzo-p- dioxin (TCDD) in activated AHR T-cells.
PTM: 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.
SIMILARITY: Belongs to the Ikaros C2H2-type zinc-finger protein family.
SIMILARITY: Contains 6 C2H2-type zinc fingers.

-  MalaCards Disease Associations
  MalaCards Gene Search: IKZF3
Diseases sorted by gene-association score: chronic lymphocytic leukemia* (147), b-cell adult acute lymphocytic leukemia (8), pineal parenchymal tumor of intermediate differentiation (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.10 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 35.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.5062-0.379 Picture PostScript Text
3' UTR -115.90506-0.229 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

ModBase Predicted Comparative 3D Structure on Q9UKT9
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007498 mesoderm development
GO:0030888 regulation of B cell proliferation
GO:0042113 B cell activation
GO:0042981 regulation of apoptotic process
GO:0045577 regulation of B cell differentiation
GO:0045619 regulation of lymphocyte differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  BC032707 - Homo sapiens IKAROS family zinc finger 3 (Aiolos), mRNA (cDNA clone MGC:45157 IMAGE:5497068), complete cds.
AF129512 - Homo sapiens zinc finger DNA binding protein Aiolos mRNA, complete cds.
AY377973 - Homo sapiens aiolos isoform hAio-del(ex2) (ZNFN1A3) mRNA, complete cds, alternatively spliced.
AY377975 - Homo sapiens aiolos isoform hAio-del(ex2,5) (ZNFN1A3) mRNA, complete cds, alternatively spliced.
AY377976 - Homo sapiens aiolos isoform hAio-del(ex3) (ZNFN1A3) mRNA, complete cds, alternatively spliced.
AY377977 - Homo sapiens aiolos isoform hAio-del(ex3,4) (ZNFN1A3) mRNA, complete cds, alternatively spliced.
AY377978 - Homo sapiens aiolos isoform hAio-del(ex3,4,5) (ZNFN1A3) mRNA, complete cds, alternatively spliced.
AY377979 - Homo sapiens aiolos isoform hAio-del(ex3,4,5,6) (ZNFN1A3) mRNA, complete cds, alternatively spliced.
AY377980 - Homo sapiens aiolos isoform hAio-del(ex4,5,6) (ZNFN1A3) mRNA, complete cds, alternatively spliced.
AY377981 - Homo sapiens aiolos isoform hAio-ALT (ZNFN1A3) mRNA, complete cds, alternatively spliced.
AY377982 - Homo sapiens aiolos isoform hAio-ALT-del(ex4) (ZNFN1A3) mRNA, complete cds, alternatively spliced.
JD214563 - Sequence 195587 from Patent EP1572962.
JD420482 - Sequence 401506 from Patent EP1572962.
JD504974 - Sequence 485998 from Patent EP1572962.
AK303495 - Homo sapiens cDNA FLJ50938 complete cds, highly similar to Zinc finger protein Aiolos.
AK301250 - Homo sapiens cDNA FLJ50248 complete cds, highly similar to Zinc finger protein Aiolos.
JD299863 - Sequence 280887 from Patent EP1572962.
JD182301 - Sequence 163325 from Patent EP1572962.
JD272251 - Sequence 253275 from Patent EP1572962.
AJ292565 - Homo sapiens mRNA for AIOLOS isoform two (AIOLOS gene).
AJ292566 - Homo sapiens mRNA for AIOLOS isoform three (AIOLOS gene).
AJ292567 - Homo sapiens mRNA for AIOlos isoform four (AIOLOS gene).
AJ292568 - Homo sapiens mRNA for AIOLOS isoform five (AIOLOS gene).
AJ292569 - Homo sapiens mRNA for AIOLOS isoform six (AIOLOS gene).
JF432186 - Synthetic construct Homo sapiens clone IMAGE:100073345 IKAROS family zinc finger 3 (Aiolos) (IKZF3) gene, encodes complete protein.
KJ893290 - Synthetic construct Homo sapiens clone ccsbBroadEn_02684 IKZF3 gene, encodes complete protein.
EU446776 - Synthetic construct Homo sapiens clone IMAGE:100069875; IMAGE:100011985; FLH257047.01L IKAROS family zinc finger 3 (Aiolos) (IKZF3) gene, encodes complete protein.
CU689496 - Synthetic construct Homo sapiens gateway clone IMAGE:100019729 5' read IKZF3 mRNA.
JD317628 - Sequence 298652 from Patent EP1572962.
JD225146 - Sequence 206170 from Patent EP1572962.
JD452740 - Sequence 433764 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_il2rbPathway - IL-2 Receptor Beta Chain in T cell Activation

-  Other Names for This Gene
  Alternate Gene Symbols: IKZF3_HUMAN, NM_001257412, Q69BL6, Q69BL7, Q69BL8, Q69BL9, Q69BM0, Q69BM1, Q69BM2, Q69BM3, Q69BM5, Q8N574, Q8WWQ9, Q8WWR0, Q8WWR1, Q8WWR2, Q8WWR3, Q9UKT9, uc010cwf.1, uc010cwf.2, uc010cwf.3, uc010cwf.4, uc010cwf.5, ZNFN1A3
UCSC ID: uc010cwf.5
RefSeq Accession: NM_001257412
Protein: Q9UKT9 (aka IKZF3_HUMAN)
CCDS: CCDS58542.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.