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Gene

ZEB2

zinc finger E-box binding homeobox 2

Summary

Cytogenetic location
2q22.3
Coordinates
Chromosome 2: 144,384,081–144,520,119 (GRCh38)
Exons
10 exons across 136 kb
Protein
1,214 amino acids
Inheritance
Autosomal dominant
Also known as
KIAA0569, SIP-1, SIP1
Previous symbols
ZFHX1B
MANE Select transcript
ENST00000627532.3NM_014795.4
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

  • Mowat-Wilson Syndrome

    • Autosomal dominant

      Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

Broader groupings

  • Epilepsy (Full Panel)

    • Epilepsy

      One of 171 genes linked to it

      A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

  • Intellectual Disability

    • One of 233 genes linked to it

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate 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 ZEB2 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 ZEB2 sits. ZEB2 and 1 gene near it on chromosome 2, from 143,952,100 to 144,952,099.Chromosome 22q22.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3144 Mb144.2 Mb144.4 Mb144.6 Mb144.8 MbQTMAN: 143,938,068–144,333,107, reverse strandQTMANZEB2: 144,384,081–144,520,119, reverse strandZEB2Diagram of ZEB2: 10 exons on the reverse strand of chromosome 2Exon 10: 45 known disease-causing sitesExon 9: 18 known disease-causing sitesExon 8: 113 known disease-causing sitesExon 7: 15 known disease-causing sitesExon 6: 15 known disease-causing sitesExon 5: 15 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 13 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 10: 144,384,081–144,390,028, 5,948 basesExon 9: 144,396,412–144,396,592, 181 basesExon 8: 144,398,301–144,400,270, 1,970 basesExon 7: 144,401,199–144,401,307, 109 basesExon 6: 144,403,916–144,404,130, 215 basesExon 5: 144,404,836–144,405,024, 189 basesExon 4: 144,424,796–144,424,867, 72 basesExon 3: 144,429,769–144,430,026, 258 basesExon 2: 144,517,278–144,517,419, 142 basesExon 1: 144,519,939–144,520,119, 181 bases10864215′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 9.3 kb of the gene's 136 kb; 3,645 of those bases code for the protein.

How a genome test reads ZEB2

254

positions in ZEB2 where ClinVar classes a change as pathogenic or likely pathogenic

45 of them (18%) fall in regions short reads find hard.

  • Segmental duplications (45 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 136 kb of ZEB2, introns included, not only the 9.3 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.). ZEB2 gene: zinc finger E-box binding homeobox 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/zeb2

Vancouver

Dante Labs. ZEB2 gene: zinc finger E-box binding homeobox 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/zeb2

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