Gene: ZEB2

Alternate names for this Gene: HSPC082|SIP-1|SIP1|SMADIP1|ZFHX1B

Gene Summary: The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2q22.3

Description of this Gene: zinc finger E-box binding homeobox 2

Type of Gene: protein-coding

rs6740731 in ZEB2 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs10192562 in ZEB2 gene and Corpuscular Hemoglobin Concentration Mean PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1553961516 in ZEB2 gene and Dysmorphic features PMID 21343952 2011 Clinical utility gene card for: Mowat-Wilson syndrome.

PMID 19842203 2009 Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.

PMID 26809768 2016 A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.

PMID 16053902 2005 Clinical and mutational spectrum of Mowat-Wilson syndrome.

PMID 17958891 2007 Mowat-Wilson syndrome.

PMID 26721324 2016 Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

PMID 27831545 2017 Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

PMID 19764019 2009 Mandibuloacral dysplasia type A in childhood.

rs10210063 in ZEB2 gene and Finding of Mean Corpuscular Hemoglobin PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs12991836 in ZEB2 gene and Intelligence PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs10164806 in ZEB2 gene and Mean Corpuscular Volume (result) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs137852981 in ZEB2 gene and Mowat-Wilson syndrome PMID 11592033 2001 Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.

PMID 12451214 2002 Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.

PMID 11448942 2001 Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

PMID 15384097 2004 Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

PMID 16688751 2006 A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

PMID 21343952 2011 Clinical utility gene card for: Mowat-Wilson syndrome.

PMID 16053902 2005 Clinical and mutational spectrum of Mowat-Wilson syndrome.

PMID 17203459 2007 ZFHX1B mutations in patients with Mowat-Wilson syndrome.

PMID 19006215 2008 Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.

PMID 2030158 1991 Strongyloides stercoralis hyperinfection in an HIV positive patient.

rs1553961697 in ZEB2 gene and Multiple congenital anomalies PMID 16053902 2005 Clinical and mutational spectrum of Mowat-Wilson syndrome.

PMID 21343952 2011 Clinical utility gene card for: Mowat-Wilson syndrome.

PMID 26809768 2016 A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.

PMID 26721324 2016 Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

PMID 19764019 2009 Mandibuloacral dysplasia type A in childhood.

PMID 27831545 2017 Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

PMID 17958891 2007 Mowat-Wilson syndrome.

PMID 19842203 2009 Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.

rs1553961516 in ZEB2 gene and Muscle hypotonia PMID 17958891 2007 Mowat-Wilson syndrome.

PMID 16053902 2005 Clinical and mutational spectrum of Mowat-Wilson syndrome.

PMID 19764019 2009 Mandibuloacral dysplasia type A in childhood.

PMID 26721324 2016 Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

PMID 27831545 2017 Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

PMID 19842203 2009 Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.

PMID 21343952 2011 Clinical utility gene card for: Mowat-Wilson syndrome.

PMID 26809768 2016 A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.

rs13382811 in ZEB2 gene and Myopia, Degenerative PMID 23933737 2013 Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia.

rs10164806 in ZEB2 gene and Red Blood Cell Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs12105521 in ZEB2 gene and Renal Cell Carcinoma PMID 23184150 2013 Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer.

PMID 28598434 2017 Genome-wide association study identifies multiple risk loci for renal cell carcinoma.

PMID 25826619 2015 Common variation at 1q24.1 (ALDH9A1) is a potential risk factor for renal cancer.

rs12991836 in ZEB2 gene and Schizophrenia PMID 23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.

PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.