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    IKZF2 IKAROS family zinc finger 2 [ Homo sapiens (human) ]

    Gene ID: 22807, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IKZF2provided by HGNC
    Official Full Name
    IKAROS family zinc finger 2provided by HGNC
    Primary source
    HGNC:HGNC:13177
    See related
    Ensembl:ENSG00000030419 MIM:606234; AllianceGenome:HGNC:13177
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ANF1A2; HELIOS; ZNF1A2; ZNFN1A2
    Summary
    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]
    Expression
    Broad expression in esophagus (RPKM 4.7), urinary bladder (RPKM 3.1) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IKZF2 in Genome Data Viewer
    Location:
    2q34
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (212999698..213152456, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (213416757..213633302, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (213864422..214017180, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:213793492-213794691 Neighboring gene uncharacterized LOC102725082 Neighboring gene uncharacterized LOC107985980 Neighboring gene microRNA 4776-2 Neighboring gene microRNA 4776-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17057 Neighboring gene MPRA-validated peak4034 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17058 Neighboring gene MPRA-validated peak4035 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17062 Neighboring gene long intergenic non-protein coding RNA 1953 Neighboring gene uncharacterized LOC105373864

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Differences in Maturation Status and Immune Phenotypes of Circulating Helios(+) and Helios(-) Tregs and Their Disrupted Correlations With Monocyte Subsets in Autoantibody-Positive T1D Individuals. Zhang Y, et al. Front Immunol, 2021. PMID 34054801, Free PMC Article
    2. Down-regulation of Helios Expression in Tregs from Patients with Hypertension. Chen ZY, et al. Curr Med Sci, 2018 Feb. PMID 30074152
    3. Helios expression in T-regulatory cells in patients with di George Syndrome. Klocperk A, et al. J Clin Immunol, 2014 Oct. PMID 25008482
    4. Adult T-cell leukemia cells are characterized by abnormalities of Helios expression that promote T cell growth. Asanuma S, et al. Cancer Sci, 2013 Aug. PMID 23600753, Free PMC Article
    5. Foxp3+ Treg expanded from patients with established diabetes reduce Helios expression while retaining normal function compared to healthy individuals. Du W, et al. PLoS One, 2013. PMID 23409157, Free PMC Article

    See all (80) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
      Title: Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
    2. Temporal changes in regulatory T cell subsets defined by the transcription factor Helios in stroke and their potential role in stroke-associated infection: a prospective case-control study.
      Title: Temporal changes in regulatory T cell subsets defined by the transcription factor Helios in stroke and their potential role in stroke-associated infection: a prospective case-control study.
    3. Decreased frequency of regulatory T cells and level of helios gene expression in secondary progressive multiple sclerosis patients: Evidence about the development of multiple sclerosis.
      Title: Decreased frequency of regulatory T cells and level of helios gene expression in secondary progressive multiple sclerosis patients: Evidence about the development of multiple sclerosis.
    4. Aging-associated HELIOS deficiency in naive CD4[+] T cells alters chromatin remodeling and promotes effector cell responses.
      Title: Aging-associated HELIOS deficiency in naive CD4(+) T cells alters chromatin remodeling and promotes effector cell responses.
    5. Expression of Programmed Cell Death 1 and Helios Genes Correlates With rs872071A>G and rs12203592C>T Single-Nucleotide Polymorphisms of InterferonRegulatory Factor 4 in Patients with T-Cell-Mediated Rejection of Renal Allograft.
      Title: Expression of Programmed Cell Death 1 and Helios Genes Correlates With rs872071A>G and rs12203592C>T Single-Nucleotide Polymorphisms of InterferonRegulatory Factor 4 in Patients with T-Cell-Mediated Rejection of Renal Allograft.
    6. Co-Expression of TIGIT and Helios Marks Immunosenescent CD8(+) T Cells During Aging.
      Title: Co-Expression of TIGIT and Helios Marks Immunosenescent CD8(+) T Cells During Aging.
    7. Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
      Title: Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
    8. Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells.
      Title: Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells.
    9. Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.
      Title: Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.
    10. Helios is a marker, not a driver, of human Treg stability.
      Title: Helios is a marker, not a driver, of human Treg stability.
    Submit: New GeneRIF Correction See all GeneRIFs (51)

    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
    Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC34330

    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 RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein Helios
    Names
    ikaros family zinc finger protein 2
    zinc finger DNA binding protein Helios
    zinc finger protein, subfamily 1A, 2 (Helios)

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001079526.2 → NP_001072994.1  zinc finger protein Helios isoform 2

      See identical proteins and their annotated locations for NP_001072994.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AC079610, AC108066, AI458439, BC028936
      Consensus CDS
      CCDS46507.1
      UniProtKB/TrEMBL
      A0A0A0MT14
      Related
      ENSP00000363439.4, ENST00000374319.8
      Conserved Domains (3) summary
      COG5048
      Location:107 → 181
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:116 → 136
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:128 → 153
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001371274.1 → NP_001358203.1  zinc finger protein Helios isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013736, AC079610, AC108066
      Consensus CDS
      CCDS2395.1
      UniProtKB/Swiss-Prot
      Q53YJ5, Q6PQC5, Q6PQC6, Q6PQC7, Q6PQC8, Q6PQD0, Q6PQD1, Q8N6S1, Q9UKS7
      Conserved Domains (2) summary
      sd00017
      Location:114 → 134
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:154 → 179
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001371275.1 → NP_001358204.1  zinc finger protein Helios isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC013736, AC079610, AC108066
      Consensus CDS
      CCDS46507.1
      UniProtKB/TrEMBL
      A0A0A0MT14
      Conserved Domains (3) summary
      COG5048
      Location:107 → 181
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:116 → 136
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:128 → 153
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001371276.1 → NP_001358205.1  zinc finger protein Helios isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC013736, AC079610, AC108066
      Consensus CDS
      CCDS46507.1
      UniProtKB/TrEMBL
      A0A0A0MT14
      Conserved Domains (3) summary
      COG5048
      Location:107 → 181
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:116 → 136
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:128 → 153
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001371277.1 → NP_001358206.1  zinc finger protein Helios isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC013736, AC079610, AC108066
      UniProtKB/TrEMBL
      A0A0A0MSL2
      Conserved Domains (2) summary
      COG5048
      Location:106 → 423
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115 → 135
      ZF_C2H2; C2H2 Zn finger [structural motif]

    6. NM_001387220.1 → NP_001374149.1  zinc finger protein Helios isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013736, AC079610, AC108066
      Consensus CDS
      CCDS2395.1
      UniProtKB/Swiss-Prot
      Q53YJ5, Q6PQC5, Q6PQC6, Q6PQC7, Q6PQC8, Q6PQD0, Q6PQD1, Q8N6S1, Q9UKS7
      Related
      ENSP00000412869.1, ENST00000434687.6
      Conserved Domains (2) summary
      sd00017
      Location:114 → 134
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:154 → 179
      zf-H2C2_2; Zinc-finger double domain

    7. NM_016260.3 → NP_057344.2  zinc finger protein Helios isoform 1

      See identical proteins and their annotated locations for NP_057344.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
      Source sequence(s)
      AC013736, AC079610, AC108066, AF130863, AI458439
      Consensus CDS
      CCDS2395.1
      UniProtKB/Swiss-Prot
      Q53YJ5, Q6PQC5, Q6PQC6, Q6PQC7, Q6PQC8, Q6PQD0, Q6PQD1, Q8N6S1, Q9UKS7
      Conserved Domains (2) summary
      sd00017
      Location:114 → 134
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:154 → 179
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      212999698..213152456 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443727.1 → XP_047299683.1  zinc finger protein Helios isoform X13

      UniProtKB/TrEMBL
      A0A0A0MSL2

    2. XM_047443725.1 → XP_047299681.1  zinc finger protein Helios isoform X9

      UniProtKB/TrEMBL
      A0A0A0MSL2

    3. XM_011510812.4 → XP_011509114.1  zinc finger protein Helios isoform X3

      See identical proteins and their annotated locations for XP_011509114.1

      Conserved Domains (3) summary
      COG5048
      Location:139 → 208
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115 → 135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:155 → 180
      zf-H2C2_2; Zinc-finger double domain

    4. XM_047443723.1 → XP_047299679.1  zinc finger protein Helios isoform X2

      UniProtKB/TrEMBL
      B4DWF2

    5. XM_011510805.4 → XP_011509107.1  zinc finger protein Helios isoform X1

      See identical proteins and their annotated locations for XP_011509107.1

      Conserved Domains (3) summary
      COG5048
      Location:145 → 214
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:121 → 141
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:161 → 186
      zf-H2C2_2; Zinc-finger double domain

    6. XM_011510809.4 → XP_011509111.1  zinc finger protein Helios isoform X3

      See identical proteins and their annotated locations for XP_011509111.1

      Conserved Domains (3) summary
      COG5048
      Location:139 → 208
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115 → 135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:155 → 180
      zf-H2C2_2; Zinc-finger double domain

    7. XM_011510811.4 → XP_011509113.1  zinc finger protein Helios isoform X3

      See identical proteins and their annotated locations for XP_011509113.1

      Conserved Domains (3) summary
      COG5048
      Location:139 → 208
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115 → 135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:155 → 180
      zf-H2C2_2; Zinc-finger double domain

    8. XM_047443722.1 → XP_047299678.1  zinc finger protein Helios isoform X2

      UniProtKB/TrEMBL
      B4DWF2

    9. XM_011510802.4 → XP_011509104.1  zinc finger protein Helios isoform X1

      See identical proteins and their annotated locations for XP_011509104.1

      Conserved Domains (3) summary
      COG5048
      Location:145 → 214
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:121 → 141
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:161 → 186
      zf-H2C2_2; Zinc-finger double domain

    10. XM_011510807.4 → XP_011509109.1  zinc finger protein Helios isoform X3

      See identical proteins and their annotated locations for XP_011509109.1

      Conserved Domains (3) summary
      COG5048
      Location:139 → 208
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115 → 135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:155 → 180
      zf-H2C2_2; Zinc-finger double domain

    11. XM_005246386.6 → XP_005246443.1  zinc finger protein Helios isoform X5

      UniProtKB/TrEMBL
      A0A0A0MT14
      Conserved Domains (4) summary
      COG5048
      Location:113 → 187
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:122 → 142
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:120 → 142
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:134 → 159
      zf-H2C2_2; Zinc-finger double domain

    12. XM_047443721.1 → XP_047299677.1  zinc finger protein Helios isoform X2

      UniProtKB/TrEMBL
      B4DWF2
      Related
      ENSP00000342876.2, ENST00000342002.6

    13. XM_011510803.4 → XP_011509105.1  zinc finger protein Helios isoform X1

      See identical proteins and their annotated locations for XP_011509105.1

      Conserved Domains (3) summary
      COG5048
      Location:145 → 214
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:121 → 141
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:161 → 186
      zf-H2C2_2; Zinc-finger double domain

    14. XM_011510808.4 → XP_011509110.1  zinc finger protein Helios isoform X3

      See identical proteins and their annotated locations for XP_011509110.1

      Conserved Domains (3) summary
      COG5048
      Location:139 → 208
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115 → 135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:155 → 180
      zf-H2C2_2; Zinc-finger double domain

    15. XM_011510804.4 → XP_011509106.1  zinc finger protein Helios isoform X1

      See identical proteins and their annotated locations for XP_011509106.1

      Conserved Domains (3) summary
      COG5048
      Location:145 → 214
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:121 → 141
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:161 → 186
      zf-H2C2_2; Zinc-finger double domain

    16. XM_011510810.4 → XP_011509112.1  zinc finger protein Helios isoform X3

      See identical proteins and their annotated locations for XP_011509112.1

      Conserved Domains (3) summary
      COG5048
      Location:139 → 208
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115 → 135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:155 → 180
      zf-H2C2_2; Zinc-finger double domain

    17. XM_011510819.4 → XP_011509121.1  zinc finger protein Helios isoform X12

      UniProtKB/TrEMBL
      A0A0A0MSL2
      Conserved Domains (3) summary
      COG5048
      Location:113 → 430
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:122 → 142
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:134 → 159
      zf-H2C2_2; Zinc-finger double domain

    18. XM_047443724.1 → XP_047299680.1  zinc finger protein Helios isoform X8

      UniProtKB/TrEMBL
      A0A0A0MSL2

    19. XM_011510815.4 → XP_011509117.1  zinc finger protein Helios isoform X4

      UniProtKB/TrEMBL
      A0A0A0MT14
      Conserved Domains (4) summary
      COG5048
      Location:114 → 188
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:123 → 143
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:121 → 143
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:135 → 160
      zf-H2C2_2; Zinc-finger double domain

    20. XM_011510817.4 → XP_011509119.1  zinc finger protein Helios isoform X7

      UniProtKB/TrEMBL
      A0A0A0MSL2
      Conserved Domains (3) summary
      COG5048
      Location:145 → 457
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:121 → 141
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:161 → 186
      zf-H2C2_2; Zinc-finger double domain

    21. XM_047443726.1 → XP_047299682.1  zinc finger protein Helios isoform X10

      UniProtKB/TrEMBL
      A0A0A0MT14

    22. XM_011510816.4 → XP_011509118.1  zinc finger protein Helios isoform X6

      UniProtKB/TrEMBL
      A0A0A0MSL2
      Conserved Domains (3) summary
      COG5048
      Location:114 → 183
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:90 → 110
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:130 → 155
      zf-H2C2_2; Zinc-finger double domain

    23. XM_011510818.4 → XP_011509120.1  zinc finger protein Helios isoform X11

      See identical proteins and their annotated locations for XP_011509120.1

      UniProtKB/TrEMBL
      A0A0A0MSL2
      Conserved Domains (3) summary
      COG5048
      Location:85 → 154
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:61 → 81
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:101 → 126
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      213416757..213633302 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341035.1 → XP_054197010.1  zinc finger protein Helios isoform X2

      UniProtKB/TrEMBL
      B4DWF2

    2. XM_054341034.1 → XP_054197009.1  zinc finger protein Helios isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKS7.2 GenPept UniProtKB/Swiss-Prot:Q9UKS7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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