ZEB2 zinc finger E-box binding homeobox 2

Gene info


KIAA0569, SIP-1, SIP1

Previous symbol


External ID

HGNC: 14881
Entrez Gene: 9839
Ensembl: ENSG00000169554
UCSC: uc002tvu.4
OMIM: 605802
UniProtKB: O60315

Disease info


CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Pulmonic stenosis
  • Coarctation of the aorta

Extra Cardiac Phenotype

Short stature , Microcephaly, Pointed chin, Cupped ears, Fleshy upturned lobules, Hypertelorism, Otitis media, Iris coloboma , Ptosis , Deep-set eyes, Downslanting palpebral fissures , Convergent strabismus , Broad eyebrows , Medially flared eyebrows , Wide nasal bridge, Prominent nasal tip, Columella extends below the ala nasi , Submucous cleft palate, Drooling , Widely spaced teeth, Malpositioned teeth, Delayed tooth eruption , Pectus excavatum, Pectus carinatum , Accessory nipple , Abdominal distention , Constipation, Megacolon , Vomiting , Hypospadias , Bifid scrotum, Cryptorchidism, Hydronephrosis, Broad eyebrows , Medially flared eyebrows , Mental retardation, Delayed motor development, Seizures , Severely impaired or absent speech, Learning problems, Hypotonia, Hypoplasia of the corpus callosum, Agenesis of the corpus callosum, Corpus callosum anomalies, Hippocampal abnormalities, Enlarged cerebral ventricles, Happy demeanor, Repetitive behaviors, Oral behaviors

Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mouse with conditional knockout in neural crest precursor cells has CHD


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for ZEB2: BED file

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Selected References

  1. Amiel, J., Espinosa-Parrilla, Y., Steffann, J., Gosset, P., Pelet, A., Prieur, M., Boute, O., Choiset, A., Lacombe, D., Philip, N., Le Merrer, M., Tanaka, H., Till, M., Touraine, R., Toutain, A., Vekemans, M., Munnich, A., & Lyonnet, S. (2001). Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures. The American Journal of Human Genetics, 69(6), 1370–1377. https://doi.org/10.1086/324342 DOI:10.1086/324342 PMID:11595972
  2. Ariss, M., Natan, K., Friedman, N., & Traboulsi, E. I. (2012). Ophthalmologic Abnormalities in Mowat-Wilson Syndrome and a Mutation inZEB2. Ophthalmic Genetics, 33(3), 159–160. https://doi.org/10.3109/13816810.2011.610860 DOI:10.3109/13816810.2011.610860 PMID:22486326
  3. Yamada, Y., Nomura, N., Yamada, K., Matsuo, M., Suzuki, Y., Sameshima, K., Kimura, R., Yamamoto, Y., Fukushi, D., Fukuhara, Y., Ishihara, N., Nishi, E., Imataka, G., Suzumura, H., Hamano, S.-I., Shimizu, K., Iwakoshi, M., Ohama, K., Ohta, A., … Wakamatsu, N. (2014). The spectrum ofZEB2mutations causing the Mowat-Wilson syndrome in Japanese populations. American Journal of Medical Genetics Part A, 164(8), 1899–1908. https://doi.org/10.1002/ajmg.a.36551 DOI:10.1002/ajmg.a.36551 PMID:24715670