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IKZF2 (IKAROS family zinc finger 2)

Identity

Other namesHelios
ZNFN1A2
Mouse Ikzf2
HGNC (Hugo) IKZF2
LocusID (NCBI) 22807
Location 2q34
Location_base_pair Starts at 213864411 and ends at 214016333 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Note Belongs to the Ikaros family of zinc finger containing DNA binding proteins.

DNA/RNA

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

Protein

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

Nomenclature
HGNC (Hugo)IKZF2   13177
Cards
AtlasIKZF2ID42885ch2q34
Entrez_Gene (NCBI)IKZF2  22807  IKAROS family zinc finger 2 (Helios)
GeneCards (Weizmann)IKZF2
Ensembl (Hinxton)ENSG00000030419 [Gene_View]  chr2:213864411-214016333 [Contig_View]  IKZF2 [Vega]
AceView (NCBI)IKZF2
Genatlas (Paris)IKZF2
WikiGenes22807
SOURCE (Princeton)NM_001079526 NM_016260
Genomic and cartography
GoldenPath (UCSC)IKZF2  -  2q34   chr2:213864411-214016333 -  2q13.1   [Description]    (hg19-Feb_2009)
EnsemblIKZF2 - 2q13.1 [CytoView]
Mapping of homologs : NCBIIKZF2 [Mapview]
OMIM606234   
Gene and transcription
Genbank (Entrez)AF130863 AI458439 AK301503 AY008294 AY587062
RefSeq transcript (Entrez)NM_001079526 NM_016260
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NT_005403 NW_001838863 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 ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKS7 (Uniprot)
NextProtQ9UKS7  [Medical]
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
HPRD05872
IPIIPI00007757   IPI00218656   IPI00937624   IPI00450520   IPI01015079   IPI01018823   IPI00450523   IPI00386999   IPI00796513   IPI00925044   IPI00796954   IPI00872888   IPI00926711   IPI00927479   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKS7
IntAct (EBI)Q9UKS7
FunCoupENSG00000030419
BioGRIDIKZF2
InParanoidQ9UKS7
Interologous Interaction database Q9UKS7
IntegromeDBIKZF2
STRING (EMBL)IKZF2
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  
REACTOMEIKZF2
Protein Interaction DatabaseIKZF2
Wikipedia pathwaysIKZF2
Gene fusion - rearrangments
Rearrangement : TICdbBCL11B [14q32.2]  -  IKZF2 [2q34]
Rearrangement : TICdbIKZF2 [2q34]  -  BCL11B [14q32.2]
Rearrangement : TICdbIKZF2 [2q34]  -  IKZF2 [2q34]
Rearrangement : TICdbIKZF2 [2q34]  -  IKZF2 [2q34]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)IKZF2
SNP (GeneSNP Utah)IKZF2
SNP : HGBaseIKZF2
Genetic variants : HAPMAPIKZF2
1000_GenomesIKZF2 
ICGC programENSG00000030419 
Somatic Mutations in Cancer : COSMICIKZF2 
CONAN: Copy Number AnalysisIKZF2 
Mutations and Diseases : HGMDIKZF2
OMIM606234   
GENETestsIKZF2
Disease Genetic AssociationIKZF2
Huge Navigator IKZF2 [HugePedia]  IKZF2 [HugeCancerGEM]
Genomic VariantsIKZF2  IKZF2 [DGVbeta]
Exome VariantIKZF2
dbVarIKZF2
ClinVarIKZF2
snp3D : Map Gene to Disease22807
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
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
CoreMineIKZF2
iHOPIKZF2

Bibliography

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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Contributor(s)

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.

Citation

This paper should be referenced as such :
Sridharan R, Smale S . IKZF2 (IKAROS family zinc finger 2). Atlas Genet Cytogenet Oncol Haematol. April 2007 .
URL : http://AtlasGeneticsOncology.org/Genes/IKZF2ID42885ch2q34.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/handle/2042/15940/04-2007-IKZF2ID42885ch2q34.pdf   [ Bibliographic record ]

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indexed on : Fri Apr 18 17:25:09 CEST 2014

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