• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ZEB2 (HGNC:14881) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
zinc finger E-box binding homeobox 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ZFHX1B
Alias symbols
KIAA0569, SIP-1, SIP1
%HI
0.37(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.11(Read more about gnomAD LOEUF score)
Cytoband
2q22.3
Genomic Coordinates
GRCh37/hg19: chr2:145141648-145277686 NCBI Ensembl UCSC
GRCh38/hg38: chr2:144384081-144520119 NCBI Ensembl UCSC
MANE Select Transcript
NM_014795.4 ENST00000627532.3 (Read more about MANE Select)
Function
Transcriptional inhibitor that binds to DNA sequence 5'- CACCT-3' in different promoters (PubMed:16061479, PubMed:20516212). Represses transcription of E-cadherin (PubMed:16061479). Represses expression of MEOX2 (PubMed:20516212). {ECO:0000269|PubMed:16061479, ECO:0000269|PubMed:20516212}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-31348
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
06/24/2020

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 16053902
    Zweier et al., (2005) identified small deletions, splice site or truncating variants of ZEB2 (also known as ZFHX1B) using FISH, qPCR and sequencing. in 28 patients classified as typical Mowat-Wilson syndrome (MOWS). Zweier et al., (2003) (PMID: 12920073) previously identified variable sizes of deletions involving ZEB2 (from 300 kb to 11 Mb) in four patients with clinical features of MOWS.
  • PUBMED: 15121779
    Ishihara et al., (2004) described 0.2–10.42 Mb deletions of 2q22–q24.1, including partial or entire ZEB2, using a multiplex PCR method in eight patients. The authors also identified five novel nonsense and frameshift variants of ZEB2 in patients with MOWS.
  • PUBMED: 19842203
    Saunderset al., (2009) reported haploinsufficiency of ZEB2 in 27 patients with MOWS from a North American Cohort. Twenty-one patients had a nonsense, frameshift, or splice site variant identified by sequencing. Six patients had partial or entire deletions of ZEB2
HI Evidence Comments:
Haploinsufficieny of ZEB2 (also known as ZFHX1B) is associated with autosomal dominant Mowat-Wilson syndrome (MOWS) characterized by distinctive facial features, intellectual disability, delayed motor development, epilepsy, and various structural anomalies including: Hirschsprung disease, genitourinary anomalies, congenital heart defects, and agenesis or hypogenesis of the corpus callosum. Wenger et al., (PMID: 25123255) described de novo variants of ZEB2 in 27/28 patients (parental testing not available for patient 28). Among the 28 patients, 22 had de novo loss of function variants. Other related publications: PMID: 24715670; PMID: 25326637; PMID: 31564432; PMID: 29455050

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Published Evidence:
  • PUBMED: 29263819
    Mak et al., (2016) described a 2 Mb duplication of 2q22.3 overlapping entire ZEB2 (in addition to two other genes) in a patient with conotruncal heart disease.
TS Evidence Comments:
Triplosensitivity of ZEB2 has not yet been characterized in an established clinical phenotype.

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)