IKZF1 Gene (Protein Coding)

IKAROS Family Zinc Finger 1

GC07P050343
GIFtS:
48
This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms ha... See more...

Aliases for IKZF1 Gene

Aliases for IKZF1 Gene

  • IKAROS Family Zinc Finger 1 2 3 5
  • Zinc Finger Protein, Subfamily 1A, 1 (Ikaros) 2 3
  • Protein Phosphatase 1, Regulatory Subunit 92 2 3
  • Ikaros Family Zinc Finger Protein 1 3 4
  • Lymphoid Transcription Factor LyF-1 3 4
  • DNA-Binding Protein Ikaros 3 4
  • ZNFN1A1 3 4
  • IKAROS 3 4
  • LYF1 3 4
  • IK1 3 4
  • IKAROS Family Zinc Finger 1 (Ikaros) 2
  • CLL-Associated Antigen KW-6 3
  • Hs.54452 3
  • PPP1R92 3
  • PRO0758 3
  • CVID13 3
  • LyF-1 3

External Ids for IKZF1 Gene

Previous HGNC Symbols for IKZF1 Gene

  • ZNFN1A1

Previous GeneCards Identifiers for IKZF1 Gene

  • GC07P050314

Summaries for IKZF1 Gene

Entrez Gene Summary for IKZF1 Gene

  • This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014]

CIViC Summary for IKZF1 Gene

GeneCards Summary for IKZF1 Gene

IKZF1 (IKAROS Family Zinc Finger 1) is a Protein Coding gene. Diseases associated with IKZF1 include Immunodeficiency, Common Variable, 13 and Severe Cutaneous Adverse Reaction. Among its related pathways are Dendritic Cells Developmental Lineage Pathway and Hematopoietic Stem Cell Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is IKZF2.

UniProtKB/Swiss-Prot Summary for IKZF1 Gene

  • Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs) (By similarity). Function is isoform-specific and is modulated by dominant-negative inactive isoforms (PubMed:17135265, PubMed:17934067).

Gene Wiki entry for IKZF1 Gene

Additional gene information for IKZF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IKZF1 Gene

Genomics for IKZF1 Gene

GeneHancer (GH) Regulatory Elements for IKZF1 Gene

Promoters and enhancers for IKZF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07J050302 Promoter/Enhancer 2.5 VISTA UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 513.9 +9.5 9501 20.7 EP300 CTCF SIN3A GTF2E2 ZBTB11 AFF1 ZBTB26 REST CTBP1 MYC IKZF1 HSALNG0057943 ENSG00000228005
GH07J050342 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.5 +53.1 53098 27.3 EP300 CTCF NRF1 SP1 TEAD4 ZBTB5 ZBTB11 AFF1 JUND TARDBP IKZF1 FIGNL1 ENSG00000228005 ZPBP RF01061-161 RF01061-162 lnc-FIGNL1-4
GH07J050261 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 18 -37.2 -37182 9.8 SP1 EP300 RELA MEF2C MYC RCOR1 RUNX1 TRIM22 POLR2A HINFP IKZF1 GRB10 FIGNL1 ENSG00000231681 lnc-IKZF1-6
GH07J050205 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE 15.9 -96.5 -96491 3 CTCF TCF7 REST RAD21 TRIM22 SMC3 NFIC ZKSCAN1 SPI1 BCOR IKZF1 ENSG00000228005 HSALNG0057935 lnc-ZPBP-3 ENSG00000231681
GH07J050280 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 13.2 -20.6 -20612 3.9 SP1 RELA MEF2C RCOR1 TRIM22 POLR2A BCL11A TCF12 NFIC CBFB IKZF1 ENSG00000235620 lnc-IKZF1-5 lnc-IKZF1-6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IKZF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IKZF1

Top Transcription factor binding sites by QIAGEN in the IKZF1 gene promoter:
  • AML1a

Genomic Locations for IKZF1 Gene

Genomic Locations for IKZF1 Gene
chr7:50,303,465-50,405,101
(GRCh38/hg38)
Size:
101,637 bases
Orientation:
Plus strand
chr7:50,343,720-50,472,799
(GRCh37/hg19)
Size:
129,080 bases
Orientation:
Plus strand

Genomic View for IKZF1 Gene

Genes around IKZF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IKZF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IKZF1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IKZF1 Gene

Proteins for IKZF1 Gene

Products:

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  • Protein details for IKZF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13422-IKZF1_HUMAN
    Recommended name:
    DNA-binding protein Ikaros
    Protein Accession:
    Q13422
    Secondary Accessions:
    • A4D260
    • B4E0Z1
    • D3DVM5
    • O00598
    • Q53XL2
    • Q69BM4
    • Q8WVA3

    Protein attributes for IKZF1 Gene

    Size:
    519 amino acids
    Molecular mass:
    57528 Da
    Quaternary structure:
    • Heterodimer formed by the various isoforms; this modulates transcription regulator activity (PubMed:17135265, PubMed:17934067). Heterodimer with other IKAROS family members. Interacts with IKZF4 AND IKZF5 (PubMed:10978333). Component of the chromatin-remodeling NuRD repressor complex which includes at least HDAC1, HDAC2, RBBP4, RBBP7, IKZF1, MTA2, MBD2, MBD3, MTA1L1, CHD3 and CHD4. Interacts directly with the CHD4 component of the NuRD complex. Interacts directly with SMARCA4; the interaction associates IKFZ1 with the BAF complex (PubMed:10204490). Interacts with SUMO1; the interaction sumoylates IKAROS, promoted by PIAS2 and PIAS3. Interacts with PIAS2 (isoform alpha); the interaction promotes sumoylation and reduces transcription repression. Interacts, to a lesser extent, with PIAS3. Interacts with PPP1CC; the interaction targets PPP1CC to pericentromeric heterochromatin, dephosphorylates IKAROS, stabilizes it and prevents it from degradation. Interacts with IKZF3 (By similarity).

    Three dimensional structures from OCA and Proteopedia for IKZF1 Gene

    Alternative splice isoforms for IKZF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IKZF1 Gene

Protein Expression for IKZF1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for IKZF1 Gene

  • Phosphorylation controls cell-cycle progression from late G(1) stage to S stage. Hyperphosphorylated during G2/M phase. Dephosphorylated state during late G(1) phase. Phosphorylation on Thr-140 is required for DNA and pericentromeric location during mitosis. CK2 is the main kinase, in vitro. GSK3 and CDK may also contribute to phosphorylation of the C-terminal serine and threonine residues. Phosphorylation on these C-terminal residues reduces the DNA-binding ability. Phosphorylation/dephosphorylation events on Ser-13 and Ser-295 regulate TDT expression during thymocyte differentiation. Dephosphorylation by protein phosphatase 1 regulates stability and pericentromeric heterochromatin location. Phosphorylated in both lymphoid and non-lymphoid tissues (By similarity). Phosphorylation at Ser-361 and Ser-364 downstream of SYK induces nuclear translocation.
  • Sumoylated. Simulataneous sumoylation on the 2 sites results in a loss of both HDAC-dependent and HDAC-independent repression. Has no effect on pericentromeric heterochromatin location. Desumoylated by SENP1 (By similarity).
  • Polyubiquitinated.
  • Ubiquitination at Lys301, Lys378, Lys286, and Lys460
  • Modification sites at PhosphoSitePlus

Other Protein References for IKZF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for IKZF1

No data available for DME Specific Peptides for IKZF1 Gene

Domains & Families for IKZF1 Gene

Gene Families for IKZF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transcription factors

Protein Domains for IKZF1 Gene

Blocks:
  • C2H2-type zinc finger signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IKZF1 Gene

GenScript: Design optimal peptide antigens:
  • Lymphoid transcription factor LyF-1 (IKZF1_HUMAN)
  • Zinc finger protein, subfamily 1A, 1 (Ikaros) (Q3T907_HUMAN)
  • Zinc finger protein, subfamily 1A, 1 (Ikaros), isoform CRA_c (Q9P1M1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13422

UniProtKB/Swiss-Prot:

IKZF1_HUMAN :
  • The N-terminal zinc-fingers 2 and 3 are required for DNA binding as well as for targeting IKFZ1 to pericentromeric heterochromatin.
  • Belongs to the Ikaros C2H2-type zinc-finger protein family.
Domain:
  • The N-terminal zinc-fingers 2 and 3 are required for DNA binding as well as for targeting IKFZ1 to pericentromeric heterochromatin.
  • The C-terminal zinc-finger domain is required for dimerization.
Family:
  • Belongs to the Ikaros C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with IKZF1: view

Function for IKZF1 Gene

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  1. Animal Model
  2. CRISPR
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  6. Cell Line

Molecular function for IKZF1 Gene

UniProtKB/Swiss-Prot Function:
Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delta-A element) of the CD3-delta gene. Repressor of the TDT (fikzfterminal deoxynucleotidyltransferase) gene during thymocyte differentiation. Regulates transcription through association with both HDAC-dependent and HDAC-independent complexes. Targets the 2 chromatin-remodeling complexes, NuRD and BAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis in adult erythroid cells. Confers early temporal competence to retinal progenitor cells (RPCs) (By similarity). Function is isoform-specific and is modulated by dominant-negative inactive isoforms (PubMed:17135265, PubMed:17934067).

Phenotypes From GWAS Catalog for IKZF1 Gene

Gene Ontology (GO) - Molecular Function for IKZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding TAS,IDA 21548011
GO:0003700 DNA-binding transcription factor activity IBA 21873635
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with IKZF1: view
genes like me logo Genes that share phenotypes with IKZF1: view

Human Phenotype Ontology for IKZF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IKZF1 Gene

MGI Knock Outs for IKZF1:

Animal Model Products

CRISPR Products

miRNA for IKZF1 Gene

miRTarBase miRNAs that target IKZF1

Transcription Factor Targets for IKZF1 Gene

Selected GeneGlobe predicted Target genes for IKZF1

Clone Products

  • Addgene plasmids for IKZF1

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for IKZF1 Gene

Localization for IKZF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IKZF1 Gene

Nucleus. Note=In resting lymphocytes, distributed diffusely throughout the nucleus. Localizes to pericentromeric heterochromatin in proliferating cells. This localization requires DNA binding which is regulated by phosphorylation / dephosphorylation events. {ECO:0000269 PubMed:17135265, ECO:0000269 PubMed:22106042}.
[Isoform Ik2]: Nucleus. Note=In resting lymphocytes, distributed diffusely throughout the nucleus. Localizes to pericentromeric heterochromatin in proliferating cells. This localization requires DNA binding which is regulated by phosphorylation / dephosphorylation events (By similarity). {ECO:0000250}.
[Isoform Ik6]: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IKZF1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for IKZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 21548011
GO:0005654 nucleoplasm IDA,IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0031618 nuclear pericentric heterochromatin IDA 21548011
GO:0032991 protein-containing complex IMP 15491138
genes like me logo Genes that share ontologies with IKZF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IKZF1 Gene

Pathways & Interactions for IKZF1 Gene

genes like me logo Genes that share pathways with IKZF1: view

SIGNOR curated interactions for IKZF1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for IKZF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0007049 cell cycle IEA --
GO:0007275 multicellular organism development IEA --
GO:0007498 mesoderm development TAS 8543809
GO:0030098 lymphocyte differentiation IMP 17934067
genes like me logo Genes that share ontologies with IKZF1: view

Drugs & Compounds for IKZF1 Gene

Products:

  1. Drug

(13) Drugs for IKZF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for IKZF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IKZF1: view

Transcripts for IKZF1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for IKZF1 Gene

24 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for IKZF1

Alternative Splicing Database (ASD) splice patterns (SP) for IKZF1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - - - -
SP8: - -
SP9: - - - - - - -
SP10: - - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - -
SP12: - - - - - -
SP13: - - - - -
SP14: - - - - - - - - -
SP15:

ExUns: 12a · 12b · 12c ^ 13
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -

Relevant External Links for IKZF1 Gene

GeneLoc Exon Structure for
IKZF1

Expression for IKZF1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IKZF1 Gene

mRNA expression in normal human tissues for IKZF1 Gene
mRNA expression by GTEx for IKZF1 GenemRNA expression by BioGPS for IKZF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IKZF1 Gene

This gene is overexpressed in Whole Blood (x20.0) and Spleen (x6.5).

Protein differential expression in normal tissues from HIPED for IKZF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (32.1), Blymphocyte (11.4), CD4 Tcells (8.9), CD8 Tcells (7.2), and NK cells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IKZF1 Gene



Protein tissue co-expression partners for IKZF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IKZF1

SOURCE GeneReport for Unigene cluster for IKZF1 Gene:

Hs.435949

mRNA Expression by UniProt/SwissProt for IKZF1 Gene:

Q13422-IKZF1_HUMAN
Tissue specificity: Abundantly expressed in thymus, spleen and peripheral blood Leukocytes and lymph nodes. Lower expression in bone marrow and small intestine.

Evidence on tissue expression from TISSUES for IKZF1 Gene

  • Bone marrow(4.6)
  • Liver(4.1)
  • Blood(3)
  • Spleen(2.8)
  • Lymph node(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IKZF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • head
  • mouth
  • salivary gland
Thorax:
  • esophagus
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
General:
  • blood
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with IKZF1: view

Orthologs for IKZF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IKZF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia IKZF1 31 30
  • 99.7 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia IKZF1 31 30
  • 91.46 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ikzf1 17 31 30
  • 89.58 (n)
cow
(Bos Taurus)
 Mammalia IKZF1 31 30
  • 89.53 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia IKZF1 31
  • 81 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia IKZF1 31
  • 74 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves IKZF1 31 30
  • 81.02 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia IKZF1 31
  • 66 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ikzf1 30
  • 73.72 (n)
zebrafish
(Danio rerio)
 Actinopterygii ikzf1 31 30
  • 68.79 (n)
 OneToOne
znfn1a1 30
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11721 30
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.10790 31
  • 24 (a)
 OneToMany
Species where no ortholog for IKZF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IKZF1 Gene

ENSEMBL:
Gene Tree for IKZF1 (if available)
TreeFam:
Gene Tree for IKZF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IKZF1: view image

Paralogs for IKZF1 Gene

Paralogs for IKZF1 Gene

(13) SIMAP similar genes for IKZF1 Gene using alignment to 3 proteins:

  • IKZF1_HUMAN
  • C9JTB0_HUMAN
  • R9R4D9_HUMAN
genes like me logo Genes that share paralogs with IKZF1: view

Variants for IKZF1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IKZF1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
636776 Likely Pathogenic: not provided 50,382,708(+) G/T SPLICE_DONOR_VARIANT,INTRON_VARIANT
636795 Uncertain Significance: not provided 50,319,068(+) G/A MISSENSE_VARIANT
636929 Uncertain Significance: not provided 50,382,553(+) CCAGTGCAAT/C INFRAME_DELETION,INTRON_VARIANT
692112 Pathogenic: Immunodeficiency, common variable, 13 50,382,664(+) C/A NONSENSE,INTRON_VARIANT
810093 Uncertain Significance: not provided 50,387,393(+) G/A MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for IKZF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for IKZF1 Gene

Variant ID Type Subtype PubMed ID
esv27276 CNV loss 19812545
esv3367345 CNV duplication 20981092
nsv1016665 CNV gain 25217958
nsv1076892 CNV deletion 25765185
nsv473148 CNV novel sequence insertion 20440878
nsv474228 CNV novel sequence insertion 20440878
nsv475031 CNV novel sequence insertion 20440878
nsv476664 CNV novel sequence insertion 20440878
nsv479142 CNV novel sequence insertion 20440878
nsv479143 CNV novel sequence insertion 20440878
nsv479529 CNV novel sequence insertion 20440878
nsv480543 CNV novel sequence insertion 20440878
nsv481627 CNV novel sequence insertion 20440878
nsv522250 CNV loss 19592680
nsv606897 CNV gain 21841781
nsv950213 CNV duplication 24416366
nsv950215 CNV duplication 24416366

Variation tolerance for IKZF1 Gene

Residual Variation Intolerance Score: 11.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IKZF1 Gene

Human Gene Mutation Database (HGMD)
IKZF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IKZF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IKZF1 Gene

Disorders for IKZF1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for IKZF1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency, common variable, 13
  • cvid13
severe cutaneous adverse reaction
  • sjs
leukemia
  • leukemias
b-cell adult acute lymphocytic leukemia
  • adult b acute lymphoblastic leukemia
leukemia, acute lymphoblastic 3
  • burkitt lymphoma
- elite association - COSMIC cancer census association via MalaCards
Search IKZF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IKZF1_HUMAN
  • Note=Defects in IKZF1 are frequent occurrences (28.6%) in acute lymphoblasic leukemia (ALL). Such alterations or deletions lead to poor prognosis for ALL.
  • Note=Chromosomal aberrations involving IKZF1 are a cause of B-cell non-Hodgkin lymphomas (B-cell NHL). Translocation t(3;7)(q27;p12), with BCL6.
  • Immunodeficiency, common variable, 13 (CVID13) [MIM:616873]: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. CVID13 is an autosomal dominant disease associated with a striking decrease in B-cell numbers. {ECO:0000269 PubMed:21548011, ECO:0000269 PubMed:26981933}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IKZF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for IKZF1 Gene

Publications for IKZF1 Gene

  1. The role of Ikaros in human erythroid differentiation. (PMID: 17934067) Dijon M … Tonnelle C (Blood 2008) 3 4 23 54
  2. The Ikaros gene, a central regulator of lymphoid differentiation, fuses to the BCL6 gene as a result of t(3;7)(q27;p12) translocation in a patient with diffuse large B-cell lymphoma. (PMID: 10753856) Hosokawa Y … Seto M (Blood 2000) 3 4 23 54
  3. Eos and pegasus, two members of the Ikaros family of proteins with distinct DNA binding activities. (PMID: 10978333) Perdomo J … Crossley M (The Journal of biological chemistry 2000) 3 4 23 54
  4. Ikaros DNA-binding proteins direct formation of chromatin remodeling complexes in lymphocytes. (PMID: 10204490) Kim J … Georgopoulos K (Immunity 1999) 3 4 23 54
  5. The Ikaros gene encodes a family of lymphocyte-restricted zinc finger DNA binding proteins, highly conserved in human and mouse. (PMID: 8543809) Molnár A … Georgopoulos K (Journal of immunology (Baltimore, Md. : 1950) 1996) 3 4 23 54

ExternalLinks

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Products for IKZF1 Gene

  • Addgene plasmids for IKZF1