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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IKZF3 Gene

protein-coding   GIFtS: 56
GCID: GC17M037921

IKAROS Family Zinc Finger 3 (Aiolos)

(Previous names: zinc finger protein, subfamily 1A, 3 (Aiolos))
(Previous symbol: ZNFN1A3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
IKAROS Family Zinc Finger 3 (Aiolos)1 2     AIO2
ZNFN1A31 2 3 5     Zinc Finger DNA Binding Protein Aiolos2
Zinc Finger Protein, Subfamily 1A, 3 (Aiolos)1 2     Zinc Finger Protein Aiolos2
AIOLOS2 5     Ikaros Family Zinc Finger Protein 33

External Ids:    HGNC: 131781   Entrez Gene: 228062   Ensembl: ENSG000001614057   OMIM: 6062215   UniProtKB: Q9UKT93   

Export aliases for IKZF3 gene to outside databases

Previous GC identifers: GC17M035175 GC17M037913 GC17M033714


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (Aiolos)) is a protein-coding gene. Diseases associated with IKZF3 include primary biliary cirrhosis, and cleft lip, and among its related super-pathways are IL-2 Signaling pathway. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is IKZF4.

UniProtKB/Swiss-Prot: IKZF3_HUMAN, Q9UKT9
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

Gene Wiki entry for IKZF3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IKZF3 gene promoter:
         SRF   Pax-5   AML1a   MAZR   SRF (504 AA)   ATF-2   RORalpha2   FAC1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIKZF3 promoter sequence
   Search SABiosciences Chromatin IP Primers for IKZF3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IKZF3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q11.2

IKZF3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IKZF3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M037921:  view genomic region     (about GC identifiers)

Start:
37,921,198 bp from pter      End:
38,020,441 bp from pter
Size:
99,244 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IKZF3_HUMAN, Q9UKT9 (See protein sequence)
Recommended Name: Zinc finger protein Aiolos  
Size: 509 amino acids; 58023 Da
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
Subcellular location: Nucleus. Cytoplasm
Secondary accessions: Q69BL6 Q69BL7 Q69BL8 Q69BL9 Q69BM0 Q69BM1 Q69BM2 Q69BM3 Q69BM5 Q8N574
Q8WWQ9 Q8WWR0 Q8WWR1 Q8WWR2 Q8WWR3
Alternative splicing: 15 isoforms:  Q9UKT9-1   Q9UKT9-2   Q9UKT9-3   Q9UKT9-4   Q9UKT9-5   Q9UKT9-6   Q9UKT9-7   Q9UKT9-8   
Q9UKT9-9   Q9UKT9-10   Q9UKT9-11   Q9UKT9-12   Q9UKT9-13   Q9UKT9-14   Q9UKT9-15   

Explore the universe of human proteins at neXtProt for IKZF3: NX_Q9UKT9

Explore proteomics data for IKZF3 at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UKT9

  • IKZF3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IKZF3 Protein Expression
    REFSEQ proteins (16 alternative transcripts): 
    NP_001244337.1  NP_001244338.1  NP_001244339.1  NP_001244340.1  NP_001244341.1  NP_001244342.1  NP_001244343.1  NP_001271443.1  
    NP_001271444.1  NP_001271445.1  NP_036613.2  NP_899051.1  NP_899052.1  NP_899053.1  NP_899054.1  NP_899055.1  

    ENSEMBL proteins: 
     ENSP00000344544   ENSP00000403776   ENSP00000463505   ENSP00000462791   ENSP00000367180  
     ENSP00000377741   ENSP00000367179   ENSP00000367194   ENSP00000438972   ENSP00000367188  
     ENSP00000462452   ENSP00000345622   ENSP00000341977   ENSP00000344471   ENSP00000420463  
     ENSP00000403027  

    Human Recombinant Protein Products for IKZF3: 
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    Cloud-Clone Corp. Proteins for IKZF3 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--

    IKZF3 for ontologies           About GeneDecksing



    IKZF3 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IKZF: IKAROS zinc fingers
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q9UKT9

    ProtoNet protein and cluster: Q9UKT9

    UniProtKB/Swiss-Prot: IKZF3_HUMAN, Q9UKT9
    Similarity: Belongs to the Ikaros C2H2-type zinc-finger protein family
    Similarity: Contains 6 C2H2-type zinc fingers


    IKZF3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IKZF3_HUMAN, Q9UKT9
    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
    Induction: Up-regulated by TGFB1 and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) in activated AHR T-cells

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity TAS10552935
    GO:0005515protein binding IPI10369681
    GO:0008270zinc ion binding ----
    GO:0042803protein homodimerization activity IDA17646674
    GO:0043565sequence-specific DNA binding ISS--
         
    IKZF3 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ikzf3):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     renal/urinary system  tumorigenesis 

    IKZF3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ikzf3tm1Kge for IKZF3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for IKZF3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for IKZF3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IKZF3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IKZF3 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IKZF3
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate IKZF3:
    hsa-miR-3163 hsa-miR-646 hsa-miR-570 hsa-miR-1270 hsa-miR-670 hsa-miR-620 hsa-miR-3119 hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidIKZF3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IKZF3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for IKZF3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1IL-2 Signaling pathway
    IL2-mediated signaling events0.49
    2Lymphocyte Signaling
    Lymphocyte Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for IKZF3
        Lymphocyte Signaling

    1 BioSystems Pathway for IKZF3
        IL2-mediated signaling events




    IKZF3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IKZF3

    5/30 Interacting proteins for IKZF3 (Q9UKT91, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FOXP3Q9BZS11, 3EBI-747204,EBI-983719 I2D: score=1 
    UBE2IP632793I2D: score=6 
    HRASP011123I2D: score=3 
    BCL2L1Q078173I2D: score=2 
    IKZF4Q9H2S93I2D: score=2 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS10552935
    GO:0007498mesoderm development TAS10552935
    GO:0030888regulation of B cell proliferation ISS--
    GO:0042113B cell activation IEA--

    IKZF3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IKZF3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for IKZF3

    1 Novoseek inferred chemical compound relationship for IKZF3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 49.4 5 10552935 (1), 12574333 (1), 17018618 (1), 18184862 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about IKZF3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IKZF3 gene (16 alternative transcripts): 
    NM_001257408.1  NM_001257409.1  NM_001257410.1  NM_001257411.1  NM_001257412.1  NM_001257413.1  NM_001257414.1  NM_001284514.1  
    NM_001284515.1  NM_001284516.1  NM_012481.4  NM_183228.2  NM_183229.2  NM_183230.2  NM_183231.2  NM_183232.2  

    Unigene Cluster for IKZF3:

    IKAROS family zinc finger 3 (Aiolos)
    Hs.371680  [show with all ESTs]
    Unigene Representative Sequence: NR_047559
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000346872(uc010wel.2 uc002hsu.3 uc002htd.3 uc010cwd.3 uc002hsv.3 uc010cwe.3 uc010cwf.3 uc010cwg.3 uc002hsw.3 uc002hsx.3 uc002hsy.3 uc002hsz.3 uc002hta.3 uc002htb.3 uc010cwh.3 uc002htc.3)
    ENST00000439167 ENST00000348427 ENST00000293068 ENST00000377945 ENST00000394189
    ENST00000377944 ENST00000377958 ENST00000535189 ENST00000377952 ENST00000583368
    ENST00000351680 ENST00000346243 ENST00000350532 ENST00000467757 ENST00000439016

    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF086054.1 AF129512.1 AJ292565.1 AJ292566.1 AJ292567.1 AJ292568.1 AJ292569.1 AJ308023.1 
    AK128436.1 AK301250.1 AK303495.1 AY377973.1 AY377975.1 AY377976.1 AY377977.1 AY377978.1 
    AY377979.1 AY377980.1 AY377981.1 AY377982.1 BC012267.1 BC032707.1 NR_047559.1 NR_047560.1 
    NR_047561.1 

    10 DOTS entries:

    DT.97810121  DT.97837816  DT.70101125  DT.97837815  DT.121004587  DT.100730524  DT.92416688  DT.100647375 
    DT.101965498  DT.120905966 

    24/34 AceView cDNA sequences (see all 34):

    AY377978 AY377981 NM_183230 AY377973 BM458447 AY377977 NM_183229 AW071111 
    BC032707 AY377975 NM_183231 AY377982 NM_183232 AY377980 NM_012481 NM_183228 
    AY377979 AY377976 AJ292567 CD641253 BX281580 AJ292566 AF129512 BX486691 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for IKZF3 (see all 17)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c
    SP1:                                            -                 -                     
    SP2:                                            -     -           -                     
    SP3:                                -           -                 -                     
    SP4:                          -                 -     -           -                     
    SP5:                    -                       -     -           -                     


    ECgene alternative splicing isoforms for IKZF3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IKZF3 expression in normal human tissues (normalized intensities)      IKZF3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTTAAATA
    IKZF3 Expression
    About this image


    IKZF3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Adipose (Muscoskeletal System)
             Body Subcutaneous White Adipose
     
     Blood (Hematopoietic System)
             Small Pre B-Cells Hematopoietic Bone Marrow

    See IKZF3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IKZF3

    SOURCE GeneReport for Unigene cluster: Hs.371680

    UniProtKB/Swiss-Prot: IKZF3_HUMAN, Q9UKT9
    Tissue specificity: Expressed most strongly in peripheral blood leukocytes, the spleen, and the thymus

        SABiosciences Expression via Pathway-Focused PCR Array including IKZF3: 
              Leukemia in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for IKZF3 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ikzf31 , 5 IKAROS family zinc finger 31, 5 85.61(n)1
    86.11(a)1
      11 (61.75 cM)5
    227801  NM_011771.11  NP_035901.11 
     984649025 
    chicken
    (Gallus gallus)
    Aves IKZF31 IKAROS family zinc finger 3 (Aiolos) 74.04(n)
    73.89(a)
      395614  NM_204820.1  NP_990151.1 
    lizard
    (Anolis carolinensis)
    Reptilia IKZF36
    IKAROS family zinc finger 3 (Aiolos)
    65(a)
    1 ↔ 1
    6(68558456-68599859)


    ENSEMBL Gene Tree for IKZF3 (if available)
    TreeFam Gene Tree for IKZF3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IKZF3 gene
    IKZF42  IKZF52  IKZF12  IKZF22  
    14 SIMAP similar genes for IKZF3 using alignment to 2 protein entries:     IKZF3_HUMAN (see all proteins):
    IKZF1    ZNF808    ZNF844    ZNF    ZNF833P    ZNFN1A2
    IKZF2    ZNF697    ZNF702P    IKZF4    ZNF32    ZNF72
    PLZF    ZNF323

    IKZF3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1994 SNPs in IKZF3 are shown (see all 1994)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0647244
    ----see VAR_0647242 E Q mis40--------
    rs37643551,2
    C--37916497(-) gggagA/Gtggag 16 -- ut31 nc-transcript-variant0--------
    rs113192421,2
    C--37930200(+) GTCCA-/TTTTTT 16 -- int1 trp30--------
    rs349013651,2
    C--37930209(+) TTTTTC/TCCCAT 16 -- int11Minor allele frequency- T:0.50NA 2
    rs359326721,2
    C,F--37942267(+) TCCATG/AGAGAC 15 -- int12Minor allele frequency- A:0.50NA WA 4
    rs613433681,2
    C--37943214(+) AATAAAA/-GTTTC 15 -- int11Minor allele frequency- -:0.50NA 2
    rs1127716461,2
    C,F--37945709(+) TACTCC/AGGAGG 15 -- int12Minor allele frequency- A:0.50NA 4
    rs678172231,2
    C--37946169(+) AGAGA-/G/GA  
            
    AATAA
    15 -- int10--------
    rs47953941,2
    C,H--37946170(+) aaaaaA/Gagaga 15 -- int1 trp30--------
    rs713554161,2
    C--37946602(+) TCTAAT/-TTTTT 15 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for IKZF3 (37921198 - 38020441 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for IKZF3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1009212CNV Deletion20482838
    esv2715904CNV Deletion23290073
    esv1483215CNV Deletion17803354
    esv2659729CNV Deletion23128226
    nsv908207CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606221    OMIM disorders: --

    17 diseases for IKZF3:    About MalaCards
    primary biliary cirrhosis    cleft lip    lymphoblastic leukemia    acute lymphoblastic leukemia
    non-hodgkin lymphoma    hodgkin's lymphoma    chronic lymphocytic leukemia    systemic lupus erythematosus
    leukemia    crohn's disease    lupus erythematosus    asthma
    rheumatoid arthritis    arthritis    prostate cancer    prostatitis
    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for IKZF3:
    Colorectal cancer     Oophoritis

    IKZF3 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for IKZF3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 33.8 8 17296582 (3), 20432734 (2), 12752680 (1), 12445735 (1)
    lymphoblastic leukemia acute 24.3 1 12445735 (1)
    lymphoma 22.7 3 11997672 (1), 12445735 (1), 11937265 (1)
    tumors 0 3 18206652 (1), 10945610 (1)

    Genetic Association Database (GAD): IKZF3
    Human Genome Epidemiology (HuGE) Navigator: IKZF3 (4 documents)

    Export disorders for IKZF3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IKZF3 gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with IKZF3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human aiolos, an ikaros-related zinc finger DNA binding protein: cDNA cloning, tissue expression pattern, and chromosomal mapping. (PubMed id 10552935)1, 2, 3, 9 Hosokawa Y.... Seto M. (1999)
    2. Both normal and leukemic B lymphocytes express multiple isoforms of the human Aiolos gene. (PubMed id 11745366)1, 2, 9 Liippo J.P.... Lassila O. (2001)
    3. Aiolos, a lymphoid restricted transcription factor that interacts with Ikaros to regulate lymphocyte differentiation. (PubMed id 9155026)1, 3, 9 Morgan B....Georgopoulos K. (1997)
    4. Combinatorial effects of splice variants modulate function of Aiolos. (PubMed id 17646674)1, 2, 9 Caballero R....Ballestar E. (2007)
    5. Aiolos transcription factor controls cell death in T cells by regulating Bcl-2 expression and its cellular localization. (PubMed id 10369681)1, 2, 9 Romero F....Rebollo A. (1999)
    6. Eos and pegasus, two members of the Ikaros family of proteins with distinct DNA binding activities. (PubMed id 10978333)1, 2, 9 Perdomo J.... Crossley M. (2000)
    7. Genome-wide meta-analyses identify three loci associa ted with primary biliary cirrhosis. (PubMed id 20639880)1, 4 Liu X....Seldin M.F. (2010)
    8. Activation of the aryl hydrocarbon receptor induces h uman type 1 regulatory T cell-like and Foxp3(+) regulatory T cells. (PubMed id 20676092)1, 2 Gandhi R....Quintana F.J. (2010)
    9. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. (PubMed id 19458352)1, 4 Hirschfield G.M....Siminovitch K.A. (2009)
    10. Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer. (PubMed id 19124506)1, 4 Mavaddat N....Pharoah P.D. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22806 HGNC: 13178 AceView: ZNFN1A3 Ensembl:ENSG00000161405 euGenes: HUgn22806
    ECgene: IKZF3 H-InvDB: IKZF3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IKZF3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IKZF3 gene:
    Search GeneIP for patents involving IKZF3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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