TBR1: T-Box Brain Transcription Factor 1
Key regulator of cortical development and autism spectrum disorder risk gene
Gene Information Card
| Symbol | TBR1 |
|---|---|
| Full Name | T-box brain transcription factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q24.2 |
| NCBI Gene ID | 10716 ncbi.nlm.nih.gov/gene/10716 |
| Ensembl ID | ENSG00000136535 |
| UniProt ID | Q16650 |
| OMIM ID | 604616 |
| HGNC ID | 11590 |
| Aliases | TBR1-1, TBR1-2, TBR1-3, TBR1-4, TBR1-5, TBR1-6, TBR1-7, TBR1-8, TBR1-9, TBR1-10, TBR1-11, TBR1-12, TBR1-13, TBR1-14, TBR1-15, TBR1-16, TBR1-17, TBR1-18, TBR1-19, TBR1-20, TBR1-21, TBR1-22, TBR1-23, TBR1-24, TBR1-25, TBR1-26, TBR1-27, TBR1-28, TBR1-29, TBR1-30, TBR1-31, TBR1-32, TBR1-33, TBR1-34, TBR1-35, TBR1-36, TBR1-37, TBR1-38, TBR1-39, TBR1-40, TBR1-41, TBR1-42, TBR1-43, TBR1-44, TBR1-45, TBR1-46, TBR1-47, TBR1-48, TBR1-49, TBR1-50, TBR1-51, TBR1-52, TBR1-53, TBR1-54, TBR1-55, TBR1-56, TBR1-57, TBR1-58, TBR1-59, TBR1-60, TBR1-61, TBR1-62, TBR1-63, TBR1-64, TBR1-65, TBR1-66, TBR1-67, TBR1-68, TBR1-69, TBR1-70, TBR1-71, TBR1-72, TBR1-73, TBR1-74, TBR1-75, TBR1-76, TBR1-77, TBR1-78, TBR1-79, TBR1-80, TBR1-81, TBR1-82, TBR1-83, TBR1-84, TBR1-85, TBR1-86, TBR1-87, TBR1-88, TBR1-89, TBR1-90, TBR1-91, TBR1-92, TBR1-93, TBR1-94, TBR1-95, TBR1-96, TBR1-97, TBR1-98, TBR1-99, TBR1-100 |
Description
TBR1 (T-box brain transcription factor 1) is a protein-coding gene that encodes a member of the T-box family of transcription factors. It is specifically expressed in the developing cerebral cortex and plays a critical role in neuronal migration, differentiation, and layer specification. TBR1 is essential for the formation of the neocortex and is involved in the regulation of genes required for cortical development. Mutations in TBR1 are associated with autism spectrum disorder (ASD) and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Loss-of-function mutations impair TBR1-mediated transcriptional regulation of cortical development genes | ClinVar, OMIM |
| Intellectual disability | De novo missense and nonsense variants disrupt TBR1 DNA-binding and transactivation | ClinVar, OMIM |
| Developmental and epileptic encephalopathy | Rare missense variants affecting T-box domain | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 12.5 | High |
| Hippocampus | 8.2 | Medium |
| Cerebellum | 3.1 | Low |
| Testis | 1.0 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 5.3 | Neuronal lineage |
| U-87 MG (glioblastoma) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.113C>T (p.Pro38Leu) | Missense | Rare | Loss of DNA-binding activity |
| c.568C>T (p.Arg190*) | Nonsense | Rare | Loss of function |
| c.1246C>T (p.Arg416Trp) | Missense | Rare | Impaired transactivation |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most TBR1 mutations are loss-of-function, reducing transcriptional activity and disrupting cortical development.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations in the T-box domain may act as dominant-negative by interfering with wild-type TBR1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TBR1 regulates FOXP2 and AUTS2 in cortical development
• TBR1 downstream targets include RELN and BCL11B
Protein Summary
TBR1 is a 682-amino acid transcription factor containing a conserved T-box DNA-binding domain. It binds to the T-box consensus sequence and regulates genes essential for cortical lamination and neuronal identity. TBR1 interacts with other transcription factors such as FOXP2 and CASK to modulate gene expression. The protein is predominantly nuclear and expressed in postmitotic neurons of the developing neocortex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBR1 Knockout HEK293 Cell Line | EDJ-KQ7136 | Human | 10716 | Details Get a Quote |
| TBR1 Knockout HeLa Cell Line | EDJ-KQ55469 | Human | 10716 | Details Get a Quote |
| TBR1 Knockout A-549 Cell Line | EDJ-KQ63954 | Human | 10716 | Details Get a Quote |
| TBR1 Knockout HCT 116 Cell Line | EDJ-KQ72410 | Human | 10716 | Details Get a Quote |
