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

    Gene ID: 22807, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IKZF2 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_001079526.2NP_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:107181
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:116136
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:128153
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001371274.1NP_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:114134
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:154179
      zf-H2C2_2; Zinc-finger double domain
    3. NM_001371275.1NP_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:107181
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:116136
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:128153
      zf-H2C2_2; Zinc-finger double domain
    4. NM_001371276.1NP_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:107181
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:116136
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:128153
      zf-H2C2_2; Zinc-finger double domain
    5. NM_001371277.1NP_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:106423
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115135
      ZF_C2H2; C2H2 Zn finger [structural motif]
    6. NM_001387220.1NP_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:114134
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:154179
      zf-H2C2_2; Zinc-finger double domain
    7. NM_016260.3NP_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:114134
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:154179
      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_047443727.1XP_047299683.1  zinc finger protein Helios isoform X13

      UniProtKB/TrEMBL
      A0A0A0MSL2
    2. XM_047443725.1XP_047299681.1  zinc finger protein Helios isoform X9

      UniProtKB/TrEMBL
      A0A0A0MSL2
    3. XM_011510812.4XP_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:139208
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:155180
      zf-H2C2_2; Zinc-finger double domain
    4. XM_047443723.1XP_047299679.1  zinc finger protein Helios isoform X2

      UniProtKB/TrEMBL
      B4DWF2
    5. XM_011510805.4XP_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:145214
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:121141
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:161186
      zf-H2C2_2; Zinc-finger double domain
    6. XM_011510809.4XP_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:139208
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:155180
      zf-H2C2_2; Zinc-finger double domain
    7. XM_011510811.4XP_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:139208
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:155180
      zf-H2C2_2; Zinc-finger double domain
    8. XM_047443722.1XP_047299678.1  zinc finger protein Helios isoform X2

      UniProtKB/TrEMBL
      B4DWF2
    9. XM_011510802.4XP_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:145214
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:121141
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:161186
      zf-H2C2_2; Zinc-finger double domain
    10. XM_011510807.4XP_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:139208
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:155180
      zf-H2C2_2; Zinc-finger double domain
    11. XM_005246386.6XP_005246443.1  zinc finger protein Helios isoform X5

      UniProtKB/TrEMBL
      A0A0A0MT14
      Conserved Domains (4) summary
      COG5048
      Location:113187
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:122142
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:120142
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:134159
      zf-H2C2_2; Zinc-finger double domain
    12. XM_047443721.1XP_047299677.1  zinc finger protein Helios isoform X2

      UniProtKB/TrEMBL
      B4DWF2
      Related
      ENSP00000342876.2, ENST00000342002.6
    13. XM_011510803.4XP_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:145214
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:121141
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:161186
      zf-H2C2_2; Zinc-finger double domain
    14. XM_011510808.4XP_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:139208
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:155180
      zf-H2C2_2; Zinc-finger double domain
    15. XM_011510804.4XP_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:145214
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:121141
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:161186
      zf-H2C2_2; Zinc-finger double domain
    16. XM_011510810.4XP_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:139208
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:115135
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:155180
      zf-H2C2_2; Zinc-finger double domain
    17. XM_011510819.4XP_011509121.1  zinc finger protein Helios isoform X12

      UniProtKB/TrEMBL
      A0A0A0MSL2
      Conserved Domains (3) summary
      COG5048
      Location:113430
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:122142
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:134159
      zf-H2C2_2; Zinc-finger double domain
    18. XM_047443724.1XP_047299680.1  zinc finger protein Helios isoform X8

      UniProtKB/TrEMBL
      A0A0A0MSL2
    19. XM_011510815.4XP_011509117.1  zinc finger protein Helios isoform X4

      UniProtKB/TrEMBL
      A0A0A0MT14
      Conserved Domains (4) summary
      COG5048
      Location:114188
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:123143
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:121143
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:135160
      zf-H2C2_2; Zinc-finger double domain
    20. XM_011510817.4XP_011509119.1  zinc finger protein Helios isoform X7

      UniProtKB/TrEMBL
      A0A0A0MSL2
      Conserved Domains (3) summary
      COG5048
      Location:145457
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:121141
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:161186
      zf-H2C2_2; Zinc-finger double domain
    21. XM_047443726.1XP_047299682.1  zinc finger protein Helios isoform X10

      UniProtKB/TrEMBL
      A0A0A0MT14
    22. XM_011510816.4XP_011509118.1  zinc finger protein Helios isoform X6

      UniProtKB/TrEMBL
      A0A0A0MSL2
      Conserved Domains (3) summary
      COG5048
      Location:114183
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:90110
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:130155
      zf-H2C2_2; Zinc-finger double domain
    23. XM_011510818.4XP_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:85154
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:6181
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:101126
      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_054341035.1XP_054197010.1  zinc finger protein Helios isoform X2

      UniProtKB/TrEMBL
      B4DWF2
    2. XM_054341034.1XP_054197009.1  zinc finger protein Helios isoform X1