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Aliases for TBR1 Gene

Aliases for TBR1 Gene

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

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F161237 2.7 VISTA FANTOM5 Ensembl ENCODE 13.6 -177.6 -177554 2.7 SIN3A GLIS2 ZNF366 SCRT2 ZNF143 EGR2 ZNF202 ZNF263 SP3 REST TBR1 LINC01806 AHCTF1P1 SLC4A10 GC02M161236 GC02M161238
GH02F161683 0.3 FANTOM5 2.3 +267.5 267507 0.1 TBR1 KRT18P46 LOC105373722
GH02F161414 0.5 Ensembl 0.8 -1.4 -1380 1.4 ARID4B ZNF48 GLIS2 MXD4 KAT8 TFDP1 SMARCA4 KLF16 GLIS1 MXD3 LINC01806 TBR1 RNA5SP108
GH02F161418 0.8 Ensembl 0.8 +2.7 2682 1.3 MTA2 RNF2 L3MBTL2 SUZ12 NRF1 CBX2 MXD4 UBTF SMARCA4 POLR2A LINC01806 ENSG00000224076 TBR1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TBR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBR1 Gene

Chromosome:
2
Start:
161,416,094 bp from pter
End:
161,425,870 bp from pter
Size:
9,777 bases
Orientation:
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:
    Q16650-TBR1_HUMAN
    Recommended name:
    T-box brain protein 1
    Protein Accession:
    Q16650
    Secondary Accessions:
    • B0AZS4
    • B2R6G5
    • Q14DC5
    • Q53TH0
    • Q56A81

    Protein attributes for TBR1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for TBR1 Gene

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

Q16650

UniProtKB/Swiss-Prot:

TBR1_HUMAN :
  • Contains 1 T-box DNA-binding domain.
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.

Gene Ontology (GO) - Molecular Function for TBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,TAS --
genes like me logo Genes that share ontologies with TBR1: view
genes like me logo Genes that share phenotypes with TBR1: view

Animal Models for TBR1 Gene

MGI Knock Outs for TBR1:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TBR1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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

Gene Ontology (GO) - Cellular Components for TBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with TBR1: view

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007420 brain development TAS 7619531
GO:0010092 specification of animal organ identity 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

Transcripts for TBR1 Gene

Unigene Clusters for TBR1 Gene

T-box, brain, 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TBR1

Flow Cytometry Products

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

No ASD Table

Relevant External Links for TBR1 Gene

GeneLoc Exon Structure for
TBR1
ECgene alternative splicing isoforms for
TBR1

Expression for TBR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for TBR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBR1 Gene:

TBR1

SOURCE GeneReport for Unigene cluster for TBR1 Gene:

Hs.210862

mRNA Expression by UniProt/SwissProt for TBR1 Gene:

Q16650-TBR1_HUMAN
Tissue specificity: Brain.
genes like me logo Genes that share expression patterns with TBR1: view

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
chimpanzee
(Pan troglodytes)
Mammalia TBR1 34 35
  • 99.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBR1 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBR1 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBR1 34 35
  • 96.68 (n)
dog
(Canis familiaris)
Mammalia TBR1 34 35
  • 96.43 (n)
mouse
(Mus musculus)
Mammalia Tbr1 34 16 35
  • 95.01 (n)
rat
(Rattus norvegicus)
Mammalia Tbr1 34
  • 94.57 (n)
chicken
(Gallus gallus)
Aves TBR1 34 35
  • 89.59 (n)
lizard
(Anolis carolinensis)
Reptilia TBR1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbr1 34
  • 80.38 (n)
zebrafish
(Danio rerio)
Actinopterygii tbr1b 34 35
  • 76.13 (n)
tbr1 34
worm
(Caenorhabditis elegans)
Secernentea tbx-9 36 35
  • 42 (a)
tbx-8 36 35
  • 38 (a)
tbx-43 35
  • 27 (a)
ManyToMany
tbx-37 35
  • 26 (a)
ManyToMany
tbx-38 35
  • 24 (a)
ManyToMany
tbx-11 35
  • 23 (a)
ManyToMany
tbx-34 35
  • 22 (a)
ManyToMany
tbx-35 35
  • 20 (a)
ManyToMany
tbx-30 35
  • 18 (a)
ManyToMany
tbx-42 35
  • 18 (a)
ManyToMany
tbx-40 35
  • 17 (a)
ManyToMany
tbx-39 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7001 35
  • 15 (a)
OneToMany
Species where no ortholog for TBR1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for TBR1 (if available)
TreeFam:
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
rs869312704 Likely pathogenic 161,423,772(+) CTGCA(-/GGCTGCA)CTGGC reference, frameshift-variant
rs10175058 -- 161,420,470(+) GACCT(C/T)GTGGC intron-variant
rs1065061 -- 161,424,465(+) GTTTT(C/G)CTACT utr-variant-3-prime
rs1065062 -- 161,424,720(+) tggta(G/T)ggatg utr-variant-3-prime
rs111330719 -- 161,423,973(+) CGCCC(C/G)GCGCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TBR1 Gene

Variant ID Type Subtype PubMed ID
esv3593155 CNV loss 21293372
esv3593156 CNV gain 21293372
nsv1003307 CNV loss 25217958

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)
TBR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBR1 Gene

Disorders for TBR1 Gene

Relevant External Links for TBR1

Genetic Association Database (GAD)
TBR1
Human Genome Epidemiology (HuGE) Navigator
TBR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBR1

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 64
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. TbetaR-I(6A) polymorphism is not a tumor susceptibility allele in Macedonian colorectal cancer patients. Correspondence re: B. Pasche et al. Type I TbetaR-I(6A) Is a Candidate Tumor Susceptibility Allele. Cancer Res., 58: 2727-2732, 1998. (PMID: 11719470) Stefanovska A.M. … Spiroski M. (Cancer Res. 2001) 3 46 64
  5. 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 64

Products for TBR1 Gene

Sources for TBR1 Gene

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