Aliases for TBR1 Gene
External Ids for TBR1 Gene
Previous GeneCards Identifiers for TBR1 Gene
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. [provided by RefSeq, Dec 2015]
GeneCards Summary for TBR1 Gene
TBR1 (T-Box Brain Transcription Factor 1) is a Protein Coding gene. Diseases associated with TBR1 include Intellectual Developmental Disorder With Autism And Speech Delay and Pervasive Developmental Disorder. Among its related pathways are Neuroscience. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is EOMES.
UniProtKB/Swiss-Prot Summary for TBR1 Gene
Transcriptional repressor involved in multiple aspects of cortical development, including neuronal migration, laminar and areal identity, and axonal projection (PubMed:25232744, PubMed:30250039). As transcriptional repressor of FEZF2, it blocks the formation of the corticospinal (CS) tract from layer 6 projection neurons, thereby restricting the origin of CS axons specifically to layer 5 neurons (By similarity).