Atlas of Genetics and Cytogenetics in Oncology and Haematology

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IKZF2 (IKAROS family zinc finger 2)


Other namesANF1A2
LocusID (NCBI) 22807
Atlas_Id 42885
Location 2q34
Location_base_pair Starts at 213864411 and ends at 214016333 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Fusion genes
(updated 2015)
IKZF2 (2q34) / BCL11B (14q32.2)IKZF2 (2q34) / EFHA1 ()IKZF2 (2q34) / MICU2 (13q12.11)
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.

External links

HGNC (Hugo)IKZF2   13177
Entrez_Gene (NCBI)IKZF2  22807  IKAROS family zinc finger 2 (Helios)
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
Genomic and cartography
GoldenPath hg19 (UCSC)IKZF2  -     chr2:213864411-214016333 -  2q34   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IKZF2  -     2q34   [Description]    (hg38-Dec_2013)
EnsemblIKZF2 - 2q34 [CytoView hg19]  IKZF2 - 2q34 [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 : Fast-db (Paris)GSHG0018323
Alternative Splicing GalleryENSG00000030419
Gene ExpressionIKZF2 [ NCBI-GEO ]     IKZF2 [ SEEK ]   IKZF2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKS7 (Uniprot)
NextProtQ9UKS7  [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   
Related proteins : CluSTrQ9UKS7
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
DMDM Disease mutations22807
Blocks (Seattle)Q9UKS7
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  DNA binding  protein binding  nucleus  transcription, DNA-templated  biological_process  protein homodimerization activity  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  protein heterodimerization activity  
Ontology : EGO-EBImolecular_function  DNA binding  protein binding  nucleus  transcription, DNA-templated  biological_process  protein homodimerization activity  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  protein heterodimerization activity  
Protein Interaction DatabaseIKZF2
Atlas of Cancer Signalling NetworkIKZF2
Wikipedia pathwaysIKZF2
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, variants
NCBI Variation ViewerIKZF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IKZF2
Exome Variant ServerIKZF2
Genetic variants : HAPMAPIKZF2
Genomic Variants (DGV)IKZF2 [DGVbeta]
ICGC Data PortalIKZF2 
TCGA Data PortalIKZF2 
Tumor PortalIKZF2
Somatic Mutations in Cancer : COSMICIKZF2 
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
DoCM (Curated mutations) IKZF2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)2:213864411-214016333
CONAN: Copy Number AnalysisIKZF2 
Mutations and Diseases : HGMDIKZF2
NextProtQ9UKS7 [Medical]
Disease Genetic AssociationIKZF2
Huge Navigator IKZF2 [HugePedia]  IKZF2 [HugeCancerGEM]
snp3D : Map Gene to Disease22807
DGIdb (Drug Gene Interaction db)IKZF2
BioCentury BCIQIKZF2
General knowledge
Homologs : HomoloGeneIKZF2
Homology/Alignments : Family Browser (UCSC)IKZF2
Phylogenetic Trees/Animal Genes : TreeFamIKZF2
Chemical/Protein Interactions : CTD22807
Chemical/Pharm GKB GenePA162391927
Clinical trialIKZF2
Cancer Resource (Charite)ENSG00000030419
Other databases
PubMed39 Pubmed reference(s) in Entrez


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
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
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
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
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
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
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Written04-2007Rupa 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.


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 :

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Oct 3 12:18:01 CEST 2015

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