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IKZF4 IKAROS family zinc finger 4 [ Homo sapiens (human) ]

Gene ID: 64375, updated on 2-Nov-2024

Summary

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Official Symbol
IKZF4provided by HGNC
Official Full Name
IKAROS family zinc finger 4provided by HGNC
Primary source
HGNC:HGNC:13179
See related
Ensembl:ENSG00000123411 MIM:606239; AllianceGenome:HGNC:13179
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EOS; ZNFN1A4
Summary
Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]
Expression
Ubiquitous expression in adrenal (RPKM 4.5), testis (RPKM 3.7) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See IKZF4 in Genome Data Viewer
Location:
12q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56007504..56038435)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55974567..56005499)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56401288..56432219)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RAB13, member RAS oncogene family pseudogene Neighboring gene RAB5B, member RAS oncogene family Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56390834-56391334 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:56394413-56394603 Neighboring gene Sharpr-MPRA regulatory region 2650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56399919-56400540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4541 Neighboring gene uncharacterized LOC105369781 Neighboring gene sulfite oxidase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56435423-56436212 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56439805-56440398 Neighboring gene CRISPRi-validated cis-regulatory element chr12.2135 Neighboring gene ribosomal protein S26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56473606-56474596 Neighboring gene erb-b2 receptor tyrosine kinase 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. IKZF4 acts as a novel tumor suppressor in non-small cell lung cancer by suppressing Notch signaling pathway. Wang Y, et al. Cell Signal, 2023 Jul. PMID 37044192
  2. Association analysis of the IKZF4 gene with Alopecia Areata in the Chinese Han population. Miao Y, et al. Altern Ther Health Med, 2024 Oct. PMID 38330583
  3. Genetic variation at ERBB3/IKZF4 and sexual dimorphism in epitope spreading in single autoantibody-positive relatives. Vandewalle J, et al. Diabetologia, 2021 Nov. PMID 34448034, Free PMC Article
  4. EOS, an Ikaros family zinc finger transcription factor, interacts with the HTLV-1 oncoprotein Tax and is downregulated in peripheral blood mononuclear cells of HTLV-1-infected individuals, irrespective of clinical statuses. Naito T, et al. Virol J, 2019 Dec 19. PMID 31856855, Free PMC Article
  5. Associations of polymorphisms in non-HLA loci with autoantibodies at the diagnosis of type 1 diabetes: INS and IKZF4 associate with insulin autoantibodies. Lempainen J, et al. Pediatr Diabetes, 2013 Nov. PMID 23721563

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association analysis of the IKZF4 gene with Alopecia Areata in the Chinese Han population.
    Title: Association analysis of the IKZF4 gene with Alopecia Areata in the Chinese Han population.
  2. IKZF4/NONO-RAB11FIP3 axis promotes immune evasion in gastric cancer via facilitating PD-L1 endosome recycling.
    Title: IKZF4/NONO-RAB11FIP3 axis promotes immune evasion in gastric cancer via facilitating PD-L1 endosome recycling.
  3. IKZF4 acts as a novel tumor suppressor in non-small cell lung cancer by suppressing Notch signaling pathway.
    Title: IKZF4 acts as a novel tumor suppressor in non-small cell lung cancer by suppressing Notch signaling pathway.
  4. Genetic variation at ERBB3/IKZF4 and sexual dimorphism in epitope spreading in single autoantibody-positive relatives.
    Title: Genetic variation at ERBB3/IKZF4 and sexual dimorphism in epitope spreading in single autoantibody-positive relatives.
  5. These findings suggest that both Tax and HBZ can alter the expression of EOS through undetermined mechanisms, and dysregulated expression of EOS in peripheral blood mononuclear leukocytes of HTLV-1 infected individuals may contribute to the pathological progression of HTLV-1-associated diseases.
    Title: EOS, an Ikaros family zinc finger transcription factor, interacts with the HTLV-1 oncoprotein Tax and is downregulated in peripheral blood mononuclear cells of HTLV-1-infected individuals, irrespective of clinical statuses.
  6. IKZF4 polymorphism (rs1701704) was strongly associated with insulin autobody positivity at the time of type 1 diabetes diagnosis
    Title: Associations of polymorphisms in non-HLA loci with autoantibodies at the diagnosis of type 1 diabetes: INS and IKZF4 associate with insulin autoantibodies.
  7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.
EBI GWAS Catalog
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
EBI GWAS Catalog
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
EBI GWAS Catalog
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
EBI GWAS Catalog
Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.
EBI GWAS Catalog
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1782

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables bHLH transcription factor binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in protein homooligomerization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 
part_of protein-containing complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
zinc finger protein Eos
Names
ikaros family zinc finger protein 4
zinc finger protein, subfamily 1A, 4 (Eos)
zinc finger transcription factor Eos

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001351089.2 → NP_001338018.1  zinc finger protein Eos isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2), as well as variant 1, encodes isoform a.
    Source sequence(s)
    AC034102
    Consensus CDS
    CCDS44917.1
    UniProtKB/Swiss-Prot
    Q96JP3, Q9H2S9
    UniProtKB/TrEMBL
    B3KVG5
    Related
    ENSP00000262032.5, ENST00000262032.9
    Conserved Domains (3) summary
    COG5189
    Location:211 → 271
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:161 → 181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:201 → 226
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001351090.1 → NP_001338019.1  zinc finger protein Eos isoform b

    Status: VALIDATED

    Source sequence(s)
    AC034102, AK314543
    Consensus CDS
    CCDS86309.1
    UniProtKB/TrEMBL
    B3KVG5, F8VPL6
    Related
    ENSP00000450020.1, ENST00000547791.2
    Conserved Domains (3) summary
    COG5189
    Location:166 → 226
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:116 → 136
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:156 → 181
    zf-H2C2_2; Zinc-finger double domain

  3. NM_001351091.2 → NP_001338020.1  zinc finger protein Eos isoform c

    Status: VALIDATED

    Source sequence(s)
    AC034102
    UniProtKB/TrEMBL
    B3KVG5
    Conserved Domains (3) summary
    COG5189
    Location:164 → 224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114 → 134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154 → 179
    zf-H2C2_2; Zinc-finger double domain

  4. NM_001351092.2 → NP_001338021.1  zinc finger protein Eos isoform d

    Status: VALIDATED

    Source sequence(s)
    AC034102
    UniProtKB/TrEMBL
    B3KVG5
    Conserved Domains (3) summary
    COG5189
    Location:109 → 169
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:59 → 79
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:99 → 124
    zf-H2C2_2; Zinc-finger double domain

  5. NM_022465.4 → NP_071910.3  zinc finger protein Eos isoform a

    See identical proteins and their annotated locations for NP_071910.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC034102, BX647761, DA797441
    Consensus CDS
    CCDS44917.1
    UniProtKB/Swiss-Prot
    Q96JP3, Q9H2S9
    UniProtKB/TrEMBL
    B3KVG5
    Related
    ENSP00000448419.1, ENST00000547167.6
    Conserved Domains (3) summary
    COG5189
    Location:211 → 271
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:161 → 181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:201 → 226
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    56007504..56038435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429349.1 → XP_047285305.1  zinc finger protein Eos isoform X4

    Conserved Domains (3) summary
    COG5189
    Location:164 → 224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114 → 134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154 → 179
    zf-H2C2_2; Zinc-finger double domain

  2. XM_017019806.2 → XP_016875295.1  zinc finger protein Eos isoform X1

    UniProtKB/Swiss-Prot
    Q96JP3, Q9H2S9
    UniProtKB/TrEMBL
    B3KVG5
    Conserved Domains (3) summary
    COG5189
    Location:211 → 271
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:161 → 181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:201 → 226
    zf-H2C2_2; Zinc-finger double domain

  3. XM_017019810.2 → XP_016875299.1  zinc finger protein Eos isoform X1

    UniProtKB/Swiss-Prot
    Q96JP3, Q9H2S9
    UniProtKB/TrEMBL
    B3KVG5
    Conserved Domains (3) summary
    COG5189
    Location:211 → 271
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:161 → 181
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:201 → 226
    zf-H2C2_2; Zinc-finger double domain

  4. XM_047429350.1 → XP_047285306.1  zinc finger protein Eos isoform X4

    Conserved Domains (3) summary
    COG5189
    Location:164 → 224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114 → 134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154 → 179
    zf-H2C2_2; Zinc-finger double domain

  5. XM_047429341.1 → XP_047285297.1  zinc finger protein Eos isoform X1

    UniProtKB/Swiss-Prot
    Q96JP3, Q9H2S9

  6. XM_047429345.1 → XP_047285301.1  zinc finger protein Eos isoform X2

  7. XM_011538669.3 → XP_011536971.1  zinc finger protein Eos isoform X4

    See identical proteins and their annotated locations for XP_011536971.1

    UniProtKB/TrEMBL
    B3KVG5
    Conserved Domains (3) summary
    COG5189
    Location:164 → 224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114 → 134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154 → 179
    zf-H2C2_2; Zinc-finger double domain

  8. XM_047429347.1 → XP_047285303.1  zinc finger protein Eos isoform X4

    Conserved Domains (3) summary
    COG5189
    Location:164 → 224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114 → 134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154 → 179
    zf-H2C2_2; Zinc-finger double domain

  9. XM_011538664.2 → XP_011536966.1  zinc finger protein Eos isoform X2

    See identical proteins and their annotated locations for XP_011536966.1

    UniProtKB/TrEMBL
    B3KVG5
    Conserved Domains (2) summary
    sd00017
    Location:139 → 159
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:179 → 204
    zf-H2C2_2; Zinc-finger double domain

  10. XM_005269089.3 → XP_005269146.1  zinc finger protein Eos isoform X4

    See identical proteins and their annotated locations for XP_005269146.1

    UniProtKB/TrEMBL
    B3KVG5
    Conserved Domains (3) summary
    COG5189
    Location:164 → 224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114 → 134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154 → 179
    zf-H2C2_2; Zinc-finger double domain

  11. XM_047429342.1 → XP_047285298.1  zinc finger protein Eos isoform X2

  12. XM_047429344.1 → XP_047285300.1  zinc finger protein Eos isoform X2

  13. XM_047429348.1 → XP_047285304.1  zinc finger protein Eos isoform X4

    Conserved Domains (3) summary
    COG5189
    Location:164 → 224
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    sd00017
    Location:114 → 134
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:154 → 179
    zf-H2C2_2; Zinc-finger double domain

  14. XM_017019812.2 → XP_016875301.1  zinc finger protein Eos isoform X2

    UniProtKB/TrEMBL
    B3KVG5
    Conserved Domains (2) summary
    sd00017
    Location:139 → 159
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:179 → 204
    zf-H2C2_2; Zinc-finger double domain

  15. XM_047429351.1 → XP_047285307.1  zinc finger protein Eos isoform X5

  16. XM_047429353.1 → XP_047285309.1  zinc finger protein Eos isoform X6

  17. XM_047429352.1 → XP_047285308.1  zinc finger protein Eos isoform X5

  18. XM_047429346.1 → XP_047285302.1  zinc finger protein Eos isoform X3

    Related
    ENST00000551124.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    55974567..56005499
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372880.1 → XP_054228855.1  zinc finger protein Eos isoform X1

    UniProtKB/Swiss-Prot
    Q96JP3, Q9H2S9

  2. XM_054372881.1 → XP_054228856.1  zinc finger protein Eos isoform X1

    UniProtKB/Swiss-Prot
    Q96JP3, Q9H2S9

  3. XM_054372894.1 → XP_054228869.1  zinc finger protein Eos isoform X4

  4. XM_054372882.1 → XP_054228857.1  zinc finger protein Eos isoform X1

    UniProtKB/Swiss-Prot
    Q96JP3, Q9H2S9

  5. XM_054372887.1 → XP_054228862.1  zinc finger protein Eos isoform X2

  6. XM_054372890.1 → XP_054228865.1  zinc finger protein Eos isoform X4

  7. XM_054372889.1 → XP_054228864.1  zinc finger protein Eos isoform X4

  8. XM_054372884.1 → XP_054228859.1  zinc finger protein Eos isoform X2

  9. XM_054372891.1 → XP_054228866.1  zinc finger protein Eos isoform X4

  10. XM_054372893.1 → XP_054228868.1  zinc finger protein Eos isoform X4

  11. XM_054372883.1 → XP_054228858.1  zinc finger protein Eos isoform X2

  12. XM_054372885.1 → XP_054228860.1  zinc finger protein Eos isoform X2

  13. XM_054372892.1 → XP_054228867.1  zinc finger protein Eos isoform X4

  14. XM_054372886.1 → XP_054228861.1  zinc finger protein Eos isoform X2

  15. XM_054372895.1 → XP_054228870.1  zinc finger protein Eos isoform X5

  16. XM_054372897.1 → XP_054228872.1  zinc finger protein Eos isoform X6

  17. XM_054372896.1 → XP_054228871.1  zinc finger protein Eos isoform X5

  18. XM_054372888.1 → XP_054228863.1  zinc finger protein Eos isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H2S9.2 GenPept UniProtKB/Swiss-Prot:Q9H2S9

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