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Aliases for TBR1 Gene

Aliases for TBR1 Gene

  • T-Box, Brain 1 2 3 5
  • T-Box, Brain, 1 2 3
  • T-Brain-1 3 4
  • TES-56 3 4
  • TBR-1 3 4

External Ids for TBR1 Gene

Previous GeneCards Identifiers for TBR1 Gene

  • GC02P160326
  • GC02P160800
  • GC02P162236
  • GC02P162475
  • GC02P162098
  • GC02P161980
  • GC02P162272
  • GC02P154157

Summaries for TBR1 Gene

Entrez Gene Summary 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 1) is a Protein Coding gene. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is EOMES.

UniProtKB/Swiss-Prot for TBR1 Gene

  • Probable transcriptional regulator involved in developmental processes. Required for normal brain development.

Gene Wiki entry for TBR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBR1 Gene

Genomics for TBR1 Gene

Regulatory Elements for TBR1 Gene

Enhancers for TBR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TBR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBR1 Gene

161,416,094 bp from pter
161,425,870 bp from pter
9,777 bases
Plus strand

Genomic View for TBR1 Gene

Genes around TBR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBR1 Gene

Proteins for TBR1 Gene

  • Protein details for TBR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    T-box brain protein 1
    Protein Accession:
    Secondary Accessions:
    • B0AZS4
    • B2R6G5
    • Q14DC5
    • Q53TH0
    • Q56A81

    Protein attributes for TBR1 Gene

    682 amino acids
    Molecular mass:
    74053 Da
    Quaternary structure:
    • Part of a complex containing CASK, TBR1 and TSPYL2; may modulate gene expression in response to neuronal synaptic activity.

    Alternative splice isoforms for TBR1 Gene


neXtProt entry for TBR1 Gene

Proteomics data for TBR1 Gene at MOPED

Post-translational modifications for TBR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBR1 Gene

Domains & Families for TBR1 Gene

Gene Families for TBR1 Gene

Protein Domains for TBR1 Gene

Suggested Antigen Peptide Sequences for TBR1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 T-box DNA-binding domain.
  • Contains 1 T-box DNA-binding domain.
genes like me logo Genes that share domains with TBR1: view

Function for TBR1 Gene

Molecular function for TBR1 Gene

UniProtKB/Swiss-Prot Function:
Probable transcriptional regulator involved in developmental processes. Required for normal brain development.
genes like me logo Genes that share phenotypes with TBR1: view

Animal Models for TBR1 Gene

MGI Knock Outs for TBR1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TBR1 Gene

Localization for TBR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBR1 Gene

Subcellular locations from

Jensen Localization Image for TBR1 Gene COMPARTMENTS Subcellular localization image for TBR1 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for TBR1 Gene

Pathways & Interactions for TBR1 Gene

SuperPathways for TBR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001661 conditioned taste aversion IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007420 brain development TAS 7619531
GO:0010975 regulation of neuron projection development IEA --
GO:0021902 commitment of neuronal cell to specific neuron type in forebrain IEA --
genes like me logo Genes that share ontologies with TBR1: view

No data available for Pathways by source and SIGNOR curated interactions for TBR1 Gene

Drugs & Compounds for TBR1 Gene

No Compound Related Data Available

Transcripts for TBR1 Gene

Unigene Clusters for TBR1 Gene

T-box, brain, 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBR1 Gene

No ASD Table

Relevant External Links for TBR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TBR1 Gene

mRNA expression in normal human tissues for TBR1 Gene

mRNA differential expression in normal tissues according to GTEx for TBR1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x17.7), Brain - Cortex (x13.1), Brain - Anterior cingulate cortex (BA24) (x11.3), and Brain - Amygdala (x4.6).

Protein differential expression in normal tissues from HIPED for TBR1 Gene

This gene is overexpressed in Pancreas (28.7), Breast (21.3), and Lung (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TBR1 Gene

SOURCE GeneReport for Unigene cluster for TBR1 Gene Hs.210862

mRNA Expression by UniProt/SwissProt for TBR1 Gene

Tissue specificity: Brain.
genes like me logo Genes that share expression patterns with TBR1: view

Protein tissue co-expression partners for TBR1 Gene

Primer Products

Orthologs for TBR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TBR1 35
  • 96.68 (n)
  • 99.56 (a)
TBR1 36
  • 100 (a)
(Canis familiaris)
Mammalia TBR1 35
  • 96.43 (n)
  • 99.27 (a)
TBR1 36
  • 99 (a)
(Mus musculus)
Mammalia Tbr1 35
  • 95.01 (n)
  • 99.41 (a)
Tbr1 16
Tbr1 36
  • 99 (a)
(Pan troglodytes)
Mammalia TBR1 35
  • 99.8 (n)
  • 100 (a)
TBR1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Tbr1 35
  • 94.57 (n)
  • 99.27 (a)
(Monodelphis domestica)
Mammalia TBR1 36
  • 97 (a)
(Ornithorhynchus anatinus)
Mammalia TBR1 36
  • 99 (a)
(Gallus gallus)
Aves TBR1 35
  • 89.59 (n)
  • 94.89 (a)
TBR1 36
  • 87 (a)
(Anolis carolinensis)
Reptilia TBR1 36
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tbr1 35
  • 80.38 (n)
  • 87.63 (a)
(Danio rerio)
Actinopterygii tbr1 35
tbr1b 35
  • 76.13 (n)
  • 81.13 (a)
tbr1b 36
  • 81 (a)
(Caenorhabditis elegans)
Secernentea tbx-8 37
  • 38 (a)
tbx-9 37
  • 42 (a)
tbx-11 36
  • 23 (a)
tbx-30 36
  • 18 (a)
tbx-34 36
  • 22 (a)
tbx-35 36
  • 20 (a)
tbx-37 36
  • 26 (a)
tbx-38 36
  • 24 (a)
tbx-39 36
  • 16 (a)
tbx-40 36
  • 17 (a)
tbx-42 36
  • 18 (a)
tbx-43 36
  • 27 (a)
tbx-8 36
  • 27 (a)
tbx-9 36
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7001 36
  • 15 (a)
Species with no ortholog for TBR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBR1 Gene

Gene Tree for TBR1 (if available)
Gene Tree for TBR1 (if available)

Paralogs for TBR1 Gene

Paralogs for TBR1 Gene

(8) SIMAP similar genes for TBR1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TBR1: view

Variants for TBR1 Gene

Sequence variations from dbSNP and Humsavar for TBR1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs12994035 - 161,418,220(+) ATGCA(A/T)CCGGA reference, missense
rs1559629 -- 161,414,217(+) CGCAC(C/T)CCAAC upstream-variant-2KB
rs890076 -- 161,424,237(+) CCCCT(A/G)CCCGC utr-variant-3-prime
rs1065061 -- 161,424,465(+) GTTTT(C/G)CTACT utr-variant-3-prime
rs1065062 -- 161,424,720(+) tggta(G/T)ggatg utr-variant-3-prime

Variation tolerance for TBR1 Gene

Residual Variation Intolerance Score: 11.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.08; 38.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBR1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TBR1 Gene

Disorders for TBR1 Gene

Relevant External Links for TBR1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for TBR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBR1 Gene

Publications for TBR1 Gene

  1. T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex. (PMID: 7619531) Bulfone A. … Rubenstein J.L.R. (Neuron 1995) 2 3 4 67
  2. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld C.A. … Koellinger P.D. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  3. De novo TBR1 mutations in sporadic autism disrupt protein functions. (PMID: 25232744) Deriziotis P. … Fisher S.E. (Nat Commun 2014) 3
  4. CASK phosphorylation by PKA regulates the protein-protein interactions of CASK and expression of the NMDAR2b gene. (PMID: 20067577) Huang T.N. … Hsueh Y.P. (J. Neurochem. 2010) 23
  5. Involvement of Ngn2, Tbr and NeuroD proteins during postnatal olfactory bulb neurogenesis. (PMID: 19200230) Roybon L. … Li J.Y. (Eur. J. Neurosci. 2009) 23

Products for TBR1 Gene

Sources for TBR1 Gene