Human Gene IKZF2 (uc010fuu.3)
  Description: Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.
RefSeq Summary (NM_001079526): 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 protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr2:213,864,411-214,013,368 Size: 148,958 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr2:213,872,084-214,013,353 Size: 141,270 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:213,864,411-214,013,368)mRNA (may differ from genome)Protein (381 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F5H8M1_HUMAN
DESCRIPTION: SubName: Full=Zinc finger protein Helios;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IKZF2
CDC HuGE Published Literature: IKZF2
Positive Disease Associations: Alanine Transaminase , Blood Pressure , Body Weight , Body Weight Changes , Glucose , Insulin , Insulin Resistance , Neoplasms , plasma eosinophil count , Triglycerides , Tumor Necrosis Factor-alpha
Related Studies:
  1. Alanine Transaminase
    Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903293]
    The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
  2. Blood Pressure
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
  3. Body Weight
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 33.69 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 103.10 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
3' UTR -1957.697673-0.255 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
PF13912 - C2H2-type zinc finger
PF13913 - zinc-finger of a C2HC-type

ModBase Predicted Comparative 3D Structure on F5H8M1
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 Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AF130863 - Homo sapiens zinc finger DNA binding protein Helios mRNA, complete cds.
AK301503 - Homo sapiens cDNA FLJ55795 complete cds, highly similar to Zinc finger protein Helios.
BC028936 - Homo sapiens IKAROS family zinc finger 2 (Helios), mRNA (cDNA clone MGC:34330 IMAGE:4540576), complete cds.
AY587062 - Homo sapiens helios 1+2a,2b isoform (ZNFN1A2) mRNA, complete cds.
AY587063 - Homo sapiens helios 1+2b,2c isoform (ZNFN1A2) mRNA, complete cds.
AY587064 - Homo sapiens helios 1+5a,5b isoform (ZNFN1A2) mRNA, complete cds.
AY587065 - Homo sapiens helios 1v+2a isoform (ZNFN1A2) mRNA, complete cds.
AY587066 - Homo sapiens helios del(ex6)v isoform (ZNFN1A2) mRNA, complete cds.
AY587067 - Homo sapiens helios del(ex3)+2a isoform (ZNFN1A2) mRNA, complete cds.
AY587068 - Homo sapiens helios 1+5a isoform (ZNFN1A2) mRNA, complete cds.
AY587069 - Homo sapiens helios 1v isoform (ZNFN1A2) mRNA, complete cds.
AY587070 - Homo sapiens helios del(ex3,4) isoform (ZNFN1A2) mRNA, complete cds.
AY587071 - Homo sapiens helios del(ex5)v isoform (ZNFN1A2) mRNA, complete cds.
AY587072 - Homo sapiens helios S isoform (ZNFN1A2) mRNA, complete cds.
AY587073 - Homo sapiens helios 1+3a isoform (ZNFN1A2) mRNA, complete cds.
JF432851 - Synthetic construct Homo sapiens clone IMAGE:100074173 IKAROS family zinc finger 2 (Helios) (IKZF2) gene, encodes complete protein.
EU446869 - Synthetic construct Homo sapiens clone IMAGE:100070105; IMAGE:100012078; FLH257420.01L IKAROS family zinc finger 2 (Helios) (IKZF2) gene, encodes complete protein.
KJ893291 - Synthetic construct Homo sapiens clone ccsbBroadEn_02685 IKZF2 gene, encodes complete protein.
AB528015 - Synthetic construct DNA, clone: pF1KB7813, Homo sapiens IKZF2 gene for Zinc finger protein Helios, without stop codon, in Flexi system.
AY008294 - Homo sapiens helios 3 mRNA, complete cds.
JD285327 - Sequence 266351 from Patent EP1572962.
JD082060 - Sequence 63084 from Patent EP1572962.
JD068869 - Sequence 49893 from Patent EP1572962.
JD073658 - Sequence 54682 from Patent EP1572962.
JD496679 - Sequence 477703 from Patent EP1572962.
JD127550 - Sequence 108574 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AY587070, F5H8M1, F5H8M1_HUMAN, NM_001079526, NP_001072994
UCSC ID: uc010fuu.3
RefSeq Accession: NM_001079526
Protein: F5H8M1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AY587070.1
exon count: 5CDS single in 3' UTR: no RNA size: 1146
ORF size: 1146CDS single in intron: no Alignment % ID: 99.91
txCdsPredict score: 2492.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.