Gene: TBR1

Alternate names for this Gene: IDDAS|TBR-1|TES-56

Gene Summary: This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase.

Gene is located in Chromosome: 2

Location in Chromosome : 2q24.2

Description of this Gene: T-box brain transcription factor 1

Type of Gene: protein-coding

rs1553510301 in TBR1 gene and INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY PMID 25232744 2014 De novo TBR1 mutations in sporadic autism disrupt protein functions.

PMID 30250039 2018 Functional characterization of TBR1 variants in neurodevelopmental disorder.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 14593429 2003 Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

rs116175783 in TBR1 gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

rs55732192 in TBR1 gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs890076 in TBR1 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.