Human Gene IKZF3 (ENST00000346872.8_8) from GENCODE V47lift37
  Description: IKAROS family zinc finger 3, transcript variant 1 (from RefSeq NM_012481.5)
Gencode Transcript: ENST00000346872.8_8
Gencode Gene: ENSG00000161405.18_10
Transcript (Including UTRs)
   Position: hg19 chr17:37,913,971-38,020,565 Size: 106,595 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr17:37,922,043-38,020,379 Size: 98,337 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:37,913,971-38,020,565)mRNA (may differ from genome)Protein (509 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -88.50186-0.476 Picture PostScript Text
3' UTR -3078.308072-0.381 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

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF13894 - C2H2-type zinc finger
PF13913 - zinc-finger of a C2HC-type

SCOP Domains:
55729 - Acyl-CoA N-acyltransferases (Nat)
57667 - beta-beta-alpha zinc fingers

ModBase Predicted Comparative 3D Structure on Q9UKT9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  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.
AK128436 - Homo sapiens cDNA FLJ46579 fis, clone THYMU3042758.
JD077903 - Sequence 58927 from Patent EP1572962.
JD330774 - Sequence 311798 from Patent EP1572962.
JD038044 - Sequence 19068 from Patent EP1572962.
JD064062 - Sequence 45086 from Patent EP1572962.
JD064063 - Sequence 45087 from Patent EP1572962.
JD441199 - Sequence 422223 from Patent EP1572962.
JD064061 - Sequence 45085 from Patent EP1572962.
JD441198 - Sequence 422222 from Patent EP1572962.
JD321231 - Sequence 302255 from Patent EP1572962.
JD388760 - Sequence 369784 from Patent EP1572962.
JD265810 - Sequence 246834 from Patent EP1572962.
BC012267 - Homo sapiens, clone IMAGE:3866403, mRNA.
JD047647 - Sequence 28671 from Patent EP1572962.
JD340902 - Sequence 321926 from Patent EP1572962.
JD247044 - Sequence 228068 from Patent EP1572962.
JD287431 - Sequence 268455 from Patent EP1572962.
JD247045 - Sequence 228069 from Patent EP1572962.
JD499842 - Sequence 480866 from Patent EP1572962.
JD413463 - Sequence 394487 from Patent EP1572962.
JD198157 - Sequence 179181 from Patent EP1572962.
JD489293 - Sequence 470317 from Patent EP1572962.
JD247043 - Sequence 228067 from Patent EP1572962.
JD415329 - Sequence 396353 from Patent EP1572962.
JD397346 - Sequence 378370 from Patent EP1572962.
JD070024 - Sequence 51048 from Patent EP1572962.
JD514058 - Sequence 495082 from Patent EP1572962.
JD415327 - Sequence 396351 from Patent EP1572962.
JD560763 - Sequence 541787 from Patent EP1572962.
JD234608 - Sequence 215632 from Patent EP1572962.
JD119903 - Sequence 100927 from Patent EP1572962.
JD225392 - Sequence 206416 from Patent EP1572962.
JD345719 - Sequence 326743 from Patent EP1572962.
JD337483 - Sequence 318507 from Patent EP1572962.
JD371226 - Sequence 352250 from Patent EP1572962.
JD514398 - Sequence 495422 from Patent EP1572962.
JD352906 - Sequence 333930 from Patent EP1572962.
JD266025 - Sequence 247049 from Patent EP1572962.
AF086054 - Homo sapiens full length insert cDNA clone YY82H04.
JD106616 - Sequence 87640 from Patent EP1572962.
JD535477 - Sequence 516501 from Patent EP1572962.
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.
JD508221 - Sequence 489245 from Patent EP1572962.
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: B4DVV5, ENST00000346872.1, ENST00000346872.2, ENST00000346872.3, ENST00000346872.4, ENST00000346872.5, ENST00000346872.6, ENST00000346872.7, IKZF3_HUMAN, NM_012481, Q69BL6, Q69BL7, Q69BL8, Q69BL9, Q69BM0, Q69BM1, Q69BM2, Q69BM3, Q69BM5, Q8N574, Q8WWQ9, Q8WWR0, Q8WWR1, Q8WWR2, Q8WWR3, Q9UKT9, uc317xkv.1, uc317xkv.2, ZNFN1A3
UCSC ID: ENST00000346872.8_8
RefSeq Accession: NM_012481.5
Protein: Q9UKT9 (aka IKZF3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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