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FLASH GENE

Symbol

TBR1

contributors: mct/npt/pgu - updated : 11-09-2019

HGNC name	T-box, brain, 1
HGNC id	11590

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Visual eye retina       Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)     Mus musculus

cells

System Cell Pubmed Species Stage Rna symbol Visual ganglion cell Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

T-box genes family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in the regulation of developmental processes
	neuron-specific T-box transcription factor, playing a critical role in brain development
	regulates the expression of the extracellular matrix protein Reelin (Reln), which is crucial for neuronal migration and lamination
	modulates the balance of cortical areas and layers by regulating gene expression in postmitotic neurons
	coordinately regulates regional and laminar identity of postmitotic cortical neurons
	promotes the identity of corticothalamic neurons and represses subcerebral fates through reducing expression of FEZF2 and BCL11B
	is a direct transcriptional repressor of FEZF2 and a negative regulator of corticospinal tract formation that restricts the laminar origin of corticospinal axons specifically to L5
	regulates brain development, and is important in the regulation of amygdalar axonal connections and cognition
	master regulator of cortical development
	is in a central position both for ASD risk and for regulating transcriptional circuits that control multiple steps in layer 6 development essential for the assembly of neural circuits
	regulates neural circuits and activity in the olfactory system to control olfaction
	plays critical roles in regulating the formation and dendritic morphogenesis of specific retinal ganglion cell (RGC) types

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

TBR1/CASK protein complex regulates expression of downstream target genes and thus modulates neuronal activity and function

INTERACTION

DNA

RNA

small molecule

protein	interacting with AUTS2 (direct target of TBR1 binding and activation
	directly binds the FEZF2 locus and represses its activity in L6 corticothalamic projection neurons to restrict the origin of the CS tract to L5
	POU3F2, POU3F3 influence multiple stages of neurogenesis by suppressing Notch effector HES5, and promoting the expression of proneural transcription factors EOMES and TBR1
	TBR1 homodimerizes, it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and this interaction is disrupted by pathogenic mutations affecting either protein
	regulates autism risk genes in the developing neocortex
	interaction with CASK and disruption of the CASK and TBR1 interaction impairs extinction, suggesting the involvement of CASK in cognitive flexibility

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Tbr1 null mice exhibited profound defects of frontal cortex and layer 6 differentiation