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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

    Gene LinkOut

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