Gene: GATAD2B

Alternate names for this Gene: GANDS|MRD18|P66beta|p68

Gene Summary: This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.3

Description of this Gene: GATA zinc finger domain containing 2B

Type of Gene: protein-coding

rs1064793829 in GATAD2B gene and Apraxia of Phonation PMID 28077840 2017 Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

rs147355776 in GATAD2B gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs1064793829 in GATAD2B gene and Esotropia PMID 28077840 2017 Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

rs78053957 in GATAD2B gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs112780312 in GATAD2B gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs1064793829 in GATAD2B gene and Large head (disorder) PMID 28077840 2017 Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

rs1064793829 in GATAD2B gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 PMID 28077840 2017 Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

rs946006593 in GATAD2B gene and Movement Disorders PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 26944241 2016 Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 23644463 2013 GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

rs946006593 in GATAD2B gene and Overgrowth PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 23644463 2013 GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 26944241 2016 Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

rs1064793829 in GATAD2B gene and Poor school performance PMID 28077840 2017 Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

rs4391701 in GATAD2B gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.