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

Gene ID: 22807, updated on 3-Apr-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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Location:
2q34
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (212999698..213152456, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (213416757..213633302, complement)
105.20220307 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

Expression

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  • Project title: 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. 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. Tarighi M, et al. Int Immunopharmacol, 2023 Mar. PMID 36738680
  2. Aging-associated HELIOS deficiency in naive CD4(+) T cells alters chromatin remodeling and promotes effector cell responses. Zhang H, et al. Nat Immunol, 2023 Jan. PMID 36510022, Free PMC Article
  3. Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation. Shahin T, et al. Blood Adv, 2022 Apr 12. PMID 34920454, Free PMC Article
  4. Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells. Hetemäki I, et al. Sci Immunol, 2021 Nov 26. PMID 34826260
  5. Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity. Shahin T, et al. Sci Immunol, 2021 Nov 26. PMID 34826259, Free PMC Article

See all (77) 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)

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

  • 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 molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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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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_2023_10

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

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

  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

  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

  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

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