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Gene

IKZF2

IKAROS family zinc finger 2

Summary

Cytogenetic location
2q34
Coordinates
Chromosome 2: 212,999,698–213,151,612 (GRCh38)
Exons
9 exons across 151.9 kb
Protein
526 amino acids
Inheritance
Autosomal dominant
Also known as
Helios
Previous symbols
ZNFN1A2
MANE Select transcript
ENST00000434687.6NM_001387220.1
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • EBV-Driven Lymphoproliferation and CARD11 Immune Dysregulation

    • IKZF2-related immune dysregulationAutosomal dominant

      Caused by changes in IKZF2 (Helios), it leads to variable immune deficiency, autoimmunity and lymphoproliferation.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Recognition guides monitoring for infections, autoimmunity and EBV-related complications.

Broader groupings

  • Hearing Loss and Deafness

    • Nonsyndromic Genetic Hearing Loss

      One of 97 genes linked to it

      Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How IKZF2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where IKZF2 sits. IKZF2 and 1 gene near it on chromosome 2, from 212,575,655 to 213,575,654.Chromosome 22q34p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3212.6 Mb212.8 Mb213 Mb213.2 Mb213.4 MbIKZF2: 212,999,698–213,151,612, reverse strandIKZF2SPAG16: 213,284,360–214,410,501, forward strandSPAG16Diagram of IKZF2: 9 exons on the reverse strand of chromosome 2Exon 6: 1 known disease-causing siteExon 9: 212,999,698–213,008,084, 8,387 basesExon 8: 213,013,791–213,013,934, 144 basesExon 7: 213,021,993–213,022,130, 138 basesExon 6: 213,049,713–213,049,880, 168 basesExon 5: 213,056,833–213,057,099, 267 basesExon 4: 213,147,708–213,147,812, 105 basesExon 3: 213,148,596–213,148,644, 49 basesExon 2: 213,150,144–213,150,247, 104 basesExon 1: 213,151,413–213,151,612, 200 bases9515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 9.6 kb of the gene's 151.9 kb; 1,581 of those bases code for the protein.

How a genome test reads IKZF2

1

position in IKZF2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 151.9 kb of IKZF2, introns included, not only the 9.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). IKZF2 gene: IKAROS family zinc finger 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/ikzf2

Vancouver

Dante Labs. IKZF2 gene: IKAROS family zinc finger 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ikzf2

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