Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

IKZF2 (IKAROS family zinc finger 2)

Written2007-04Rupa Sridharan, Stephen Smale
Room 6730 MacDonald Research Laboratories, Howard Hughes Medical Institute, 675 Charles Young Drive South, University of California, Los Angeles, CA 90095-1662, USA.

(Note : for Links provided by Atlas : click)


Other namesHelios
Mouse Ikzf2
LocusID (NCBI) 22807
Atlas_Id 42885
Location 2q34  [Link to chromosome band 2q34]
Location_base_pair Starts at 213864411 and ends at 214016333 bp from pter ( according to hg19-Feb_2009)  [Mapping IKZF2.png]
Fusion genes
(updated 2016)
ERBB4 (2q34) / IKZF2 (2q34)IKZF2 (2q34) / BCL11B (14q32.2)IKZF2 (2q34) / DOCK2 (5q35.1)
IKZF2 (2q34) / MICU2 (13q12.11)IKZF2 (2q34) / SPAG16 (2q34)
Note Belongs to the Ikaros family of zinc finger containing DNA binding proteins.


Description 143kb encoding 7 exons.
Transcription 12kb transcript, alternatively spliced to give two predominant isoforms.


Note 526 amino acids. Mouse protein migrates at 70kD.
  Helios with the zinc finger domain shown as blocks and the exon junctions in black lines.
Description Largest isoform contains four N-terminal zinc fingers used for DNA binding and two C terminal zinc fingers for homodimerization and heterodimerization with other Ikaros family members.
Expression Largely restricted to the thymus. In mice, besides thymocytes and T cells, low levels are found in proB cells and bone marrow multipotent progenitors.
Localisation Nuclear. Often localizes to the pericentric heterochromatin as punctate spots in cycling cells, with diffuse nuclear localization in non-cycling cells.
Function Helios is thought to be important for T cell development and may function as a repressor of transcription. However, Helios mutant mice have not been reported. In mice, Helios can recruit the NuRD chromatin remodeling complex to the pericentric heterochromatin.
Homology High level of identity to Ikaros over the zinc finger domains.

Implicated in

Entity Leukemia
Note Shorter isoforms of Helios are expressed in certain human leukemias. They may function as dominant negative inhibitors of full-length proteins due to the lack of DNA binding domain. However, dominant negative functions have not been demonstrated experimentally.
Disease T cell acute lymphoblastic leukemia.
Entity Lymphoma
Note Overexpression of Helios in B cells of mice promotes lymphomagenesis. Overexpression of a DNA binding mutant in hematopoietic progenitors leads to aggressive and transplantable T cell lymphomas in 60% of the mice.


Transgenic expression of Helios in B lineage cells alters B cell properties and promotes lymphomagenesis.
Dovat S, Montecino-Rodriguez E, Schuman V, Teitell MA, Dorshkind K, Smale ST
Journal of immunology (Baltimore, Md. : 1950). 2005 ; 175 (6) : 3508-3515.
PMID 16148093
Helios, a T cell-restricted Ikaros family member that quantitatively associates with Ikaros at centromeric heterochromatin.
Hahm K, Cobb BS, McCarty AS, Brown KE, Klug CA, Lee R, Akashi K, Weissman IL, Fisher AG, Smale ST
Genes & development. 1998 ; 12 (6) : 782-796.
PMID 9512513
Human Helios, an Ikaros-related zinc finger DNA binding protein: cDNA cloning and tissue expression pattern.
Hosokawa Y, Maeda Y, Seto M
Immunogenetics. 1999 ; 50 (1-2) : 106-108.
PMID 10541817
Helios, a novel dimerization partner of Ikaros expressed in the earliest hematopoietic progenitors.
Kelley CM, Ikeda T, Koipally J, Avitahl N, Wu L, Georgopoulos K, Morgan BA
Current biology : CB. 1998 ; 8 (9) : 508-515.
PMID 9560339
Overexpression of novel short isoforms of Helios in a patient with T-cell acute lymphoblastic leukemia.
Nakase K, Ishimaru F, Fujii K, Tabayashi T, Kozuka T, Sezaki N, Matsuo Y, Harada M
Experimental hematology. 2002 ; 30 (4) : 313-317.
PMID 11937265
Expression of a non-DNA-binding isoform of Helios induces T-cell lymphoma in mice.
Zhang Z, Swindle CS, Bates JT, Ko R, Cotta CV, Klug CA
Blood. 2007 ; 109 (5) : 2190-2197.
PMID 17110463


This paper should be referenced as such :
Sridharan, Rupa ; Smale, Stephen
IKZF2 (IKAROS family zinc finger 2)
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4):270-271.
Free journal version : [ pdf ]   [ DOI ]
On line version :

External links

HGNC (Hugo)IKZF2   13177
Entrez_Gene (NCBI)IKZF2  22807  IKAROS family zinc finger 2
GeneCards (Weizmann)IKZF2
Ensembl hg19 (Hinxton)ENSG00000030419 [Gene_View]  chr2:213864411-214016333 [Contig_View]  IKZF2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000030419 [Gene_View]  chr2:213864411-214016333 [Contig_View]  IKZF2 [Vega]
ICGC DataPortalENSG00000030419
TCGA cBioPortalIKZF2
Genatlas (Paris)IKZF2
SOURCE (Princeton)IKZF2
Genetics Home Reference (NIH)IKZF2
Genomic and cartography
GoldenPath hg19 (UCSC)IKZF2  -     chr2:213864411-214016333 -  2q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IKZF2  -     2q13.1   [Description]    (hg38-Dec_2013)
EnsemblIKZF2 - 2q13.1 [CytoView hg19]  IKZF2 - 2q13.1 [CytoView hg38]
Mapping of homologs : NCBIIKZF2 [Mapview hg19]  IKZF2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF130863 AI458439 AK301503 AY008294 AY587062
RefSeq transcript (Entrez)NM_001079526 NM_016260
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)IKZF2
Cluster EST : UnigeneHs.604950 [ NCBI ]
CGAP (NCI)Hs.604950
Alternative Splicing GalleryENSG00000030419
Gene ExpressionIKZF2 [ NCBI-GEO ]   IKZF2 [ EBI - ARRAY_EXPRESS ]   IKZF2 [ SEEK ]   IKZF2 [ MEM ]
Gene Expression Viewer (FireBrowse)IKZF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22807
GTEX Portal (Tissue expression)IKZF2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKS7 (Uniprot)
NextProtQ9UKS7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKS7
Splice isoforms : SwissVarQ9UKS7 (Swissvar)
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
DMDM Disease mutations22807
Blocks (Seattle)IKZF2
Human Protein AtlasENSG00000030419
Peptide AtlasQ9UKS7
IPIIPI00007757   IPI00218656   IPI00937624   IPI00450520   IPI01015079   IPI01018823   IPI00450523   IPI00386999   IPI00796513   IPI00925044   IPI00796954   IPI00872888   IPI00926711   IPI00927479   
Protein Interaction databases
IntAct (EBI)Q9UKS7
Ontologies - Pathways
Ontology : AmiGOmolecular_function  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  transcription, DNA-templated  biological_process  protein homodimerization activity  transcription regulatory region DNA binding  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  protein heterodimerization activity  
Ontology : EGO-EBImolecular_function  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  transcription, DNA-templated  biological_process  protein homodimerization activity  transcription regulatory region DNA binding  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  protein heterodimerization activity  
NDEx NetworkIKZF2
Atlas of Cancer Signalling NetworkIKZF2
Wikipedia pathwaysIKZF2
Orthology - Evolution
GeneTree (enSembl)ENSG00000030419
Phylogenetic Trees/Animal Genes : TreeFamIKZF2
Homologs : HomoloGeneIKZF2
Homology/Alignments : Family Browser (UCSC)IKZF2
Gene fusions - Rearrangements
Fusion : MitelmanIKZF2/BCL11B [2q34/14q32.2]  
Fusion : MitelmanIKZF2/MICU2 [2q34/13q12.11]  [t(2;13)(q34;q12)]  
Fusion : TICdbIKZF2 [2q34]  -  BCL11B [14q32.2]
Fusion Cancer (Beijing)IKZF2 [2q34]  -  SPAG16 [2q34]  [FUSC000275]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIKZF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IKZF2
Exome Variant ServerIKZF2
ExAC (Exome Aggregation Consortium)IKZF2 (select the gene name)
Genetic variants : HAPMAP22807
Genomic Variants (DGV)IKZF2 [DGVbeta]
DECIPHER (Syndromes)2:213864411-214016333  ENSG00000030419
CONAN: Copy Number AnalysisIKZF2 
ICGC Data PortalIKZF2 
TCGA Data PortalIKZF2 
Broad Tumor PortalIKZF2
OASIS PortalIKZF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIKZF2 
Mutations and Diseases : HGMDIKZF2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch IKZF2
DgiDB (Drug Gene Interaction Database)IKZF2
DoCM (Curated mutations)IKZF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IKZF2 (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry IKZF2
NextProtQ9UKS7 [Medical]
Huge Navigator IKZF2 [HugePedia]
snp3D : Map Gene to Disease22807
BioCentury BCIQIKZF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22807
Chemical/Pharm GKB GenePA162391927
Clinical trialIKZF2
canSAR (ICR)IKZF2 (select the gene name)
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 10 11:33:28 CEST 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us