Genular: Defining Cellular Identity and Function

Details for: TBR1

Gene ID: 10716

Symbol: TBR1

Ensembl ID: ENSG00000136535

Description: T-box brain transcription factor 1

Associated with

Amygdala development
(GO:0021764)
Brain development
(GO:0007420)
Cell fate specification
(GO:0001708)
Cerebral cortex development
(GO:0021987)
Chromatin
(GO:0000785)
Chromatin dna binding
(GO:0031490)
Chromatin remodeling
(GO:0006338)
Commitment of neuronal cell to specific neuron type in forebrain
(GO:0021902)
Conditioned taste aversion
(GO:0001661)
Dna-binding transcription factor activity
(GO:0003700)
Dna-binding transcription factor activity, rna polymerase ii-specific
(GO:0000981)
Gene expression
(GO:0010467)
Hindbrain development
(GO:0030902)
Negative regulation of dna-templated transcription
(GO:0045892)
Nucleus
(GO:0005634)
Positive regulation of transcription by rna polymerase ii
(GO:0045944)
Protein binding
(GO:0005515)
Protein kinase binding
(GO:0019901)
Regulation of axon guidance
(GO:1902667)
Regulation of neuron projection development
(GO:0010975)
Regulation of transcription by rna polymerase ii
(GO:0006357)
Rna polymerase ii cis-regulatory region sequence-specific dna binding
(GO:0000978)
Specification of animal organ identity
(GO:0010092)

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: erythrocyte (CL0000232)
Fold Change: 6.98
Marker Score: 3,865
Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: 4.18
Marker Score: 2,201
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 2.47
Marker Score: 1,033
Cell Name: blood vessel endothelial cell (CL0000071)
Fold Change: 2.19
Marker Score: 2,207
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.65
Marker Score: 15,648
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.55
Marker Score: 13,272
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.52
Marker Score: 93,485
Cell Name: B cell (CL0000236)
Fold Change: 1.27
Marker Score: 1,214
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.18
Marker Score: 1,823
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 1.1
Marker Score: 10,378
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71,838
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48,062
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30,409
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2,413
Cell Name: goblet cell (CL0000160)
Fold Change: 0.95
Marker Score: 6,285
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.94
Marker Score: 5,354
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.92
Marker Score: 2,742
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 0.89
Marker Score: 940
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5,292
Cell Name: mast cell (CL0000097)
Fold Change: 0.86
Marker Score: 500
Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
Fold Change: 0.8
Marker Score: 1,656
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1,269
Cell Name: brush cell (CL0002204)
Fold Change: 0.78
Marker Score: 713
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.78
Marker Score: 404
Cell Name: myeloid cell (CL0000763)
Fold Change: 0.71
Marker Score: 1,145
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.65
Marker Score: 519
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.59
Marker Score: 309
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 0.5
Marker Score: 211
Cell Name: renal beta-intercalated cell (CL0002201)
Fold Change: 0.5
Marker Score: 158
Cell Name: plasma cell (CL0000786)
Fold Change: 0.46
Marker Score: 516
Cell Name: pericyte (CL0000669)
Fold Change: 0.43
Marker Score: 253
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.4
Marker Score: 306
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.38
Marker Score: 249
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.33
Marker Score: 632
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.33
Marker Score: 5,158
Cell Name: GABAergic neuron (CL0000617)
Fold Change: 0.31
Marker Score: 1,304
Cell Name: renal principal cell (CL0005009)
Fold Change: 0.27
Marker Score: 209
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.27
Marker Score: 547
Cell Name: plasmacytoid dendritic cell (CL0000784)
Fold Change: 0.26
Marker Score: 138
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 0.25
Marker Score: 256
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.24
Marker Score: 146
Cell Name: retinal ganglion cell (CL0000740)
Fold Change: 0.22
Marker Score: 275
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.22
Marker Score: 1,307
Cell Name: smooth muscle cell (CL0000192)
Fold Change: 0.21
Marker Score: 137
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.2
Marker Score: 467
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.19
Marker Score: 112
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.18
Marker Score: 88
Cell Name: radial glial cell (CL0000681)
Fold Change: 0.18
Marker Score: 67
Cell Name: podocyte (CL0000653)
Fold Change: 0.18
Marker Score: 67
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 0.16
Marker Score: 200
Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
Fold Change: 0.16
Marker Score: 263
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.16
Marker Score: 49
Cell Name: endothelial cell (CL0000115)
Fold Change: 0.14
Marker Score: 129
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.14
Marker Score: 67
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.13
Marker Score: 49
Cell Name: megakaryocyte (CL0000556)
Fold Change: 0.13
Marker Score: 73
Cell Name: CNS interneuron (CL0000402)
Fold Change: 0.12
Marker Score: 59
Cell Name: astrocyte (CL0000127)
Fold Change: 0.11
Marker Score: 98
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 0.11
Marker Score: 127
Cell Name: neuron (CL0000540)
Fold Change: 0.11
Marker Score: 446
Cell Name: endothelial cell of lymphatic vessel (CL0002138)
Fold Change: 0.11
Marker Score: 68
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.1
Marker Score: 33
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.1
Marker Score: 45
Cell Name: progenitor cell (CL0011026)
Fold Change: 0.1
Marker Score: 653
Cell Name: ependymal cell (CL0000065)
Fold Change: 0.1
Marker Score: 34
Cell Name: germ cell (CL0000586)
Fold Change: 0.1
Marker Score: 169
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.1
Marker Score: 25
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 0.09
Marker Score: 3,495
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 0.09
Marker Score: 1,413
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 0.09
Marker Score: 390
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.09
Marker Score: 711
Cell Name: malignant cell (CL0001064)
Fold Change: 0.09
Marker Score: 1,243
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.09
Marker Score: 3,471
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.09
Marker Score: 1,926
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 0.09
Marker Score: 1,787
Cell Name: oogonial cell (CL0000024)
Fold Change: 0.09
Marker Score: 128
Cell Name: macrophage (CL0000235)
Fold Change: 0.09
Marker Score: 99
Cell Name: pyramidal neuron (CL0000598)
Fold Change: 0.09
Marker Score: 148
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.09
Marker Score: 339
Cell Name: squamous epithelial cell (CL0000076)
Fold Change: 0.07
Marker Score: 48
Cell Name: male germ cell (CL0000015)
Fold Change: 0.07
Marker Score: 20
Cell Name: T cell (CL0000084)
Fold Change: 0.06
Marker Score: 111
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 0.06
Marker Score: 84
Cell Name: microglial cell (CL0000129)
Fold Change: 0.05
Marker Score: 98
Cell Name: fibroblast (CL0000057)
Fold Change: 0.05
Marker Score: 51
Cell Name: dendritic cell (CL0000451)
Fold Change: 0.05
Marker Score: 36
Cell Name: megakaryocyte progenitor cell (CL0000553)
Fold Change: 0.05
Marker Score: 14
Cell Name: glutamatergic neuron (CL0000679)
Fold Change: 0.05
Marker Score: 505
Cell Name: visceromotor neuron (CL0005025)
Fold Change: 0.05
Marker Score: 14
Cell Name: central nervous system macrophage (CL0000878)
Fold Change: 0.05
Marker Score: 23
Cell Name: leukocyte (CL0000738)
Fold Change: 0.05
Marker Score: 26
Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: 0.04
Marker Score: 123
Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
Fold Change: 0.04
Marker Score: 14
Cell Name: common dendritic progenitor (CL0001029)
Fold Change: 0.04
Marker Score: 14
Cell Name: ionocyte (CL0005006)
Fold Change: 0.04
Marker Score: 12
Cell Name: oligodendrocyte (CL0000128)
Fold Change: 0.04
Marker Score: 90
Cell Name: transitional stage B cell (CL0000818)
Fold Change: 0.04
Marker Score: 13
Cell Name: Mueller cell (CL0000636)
Fold Change: 0.04
Marker Score: 50
Cell Name: late promyelocyte (CL0002151)
Fold Change: 0.04
Marker Score: 9
Cell Name: mesothelial cell (CL0000077)
Fold Change: 0.03
Marker Score: 14

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

**Key Characteristics** TBR1 is a transcription factor that exhibits the following characteristics: * **Cell-specific expression**: TBR1 is expressed in specific cell types, including corticothalamic-projecting glutamatergic cortical neurons, L6b glutamatergic cortical neurons, and L2/3-6 intratelencephalic projecting glutamatergic neurons. * **DNA binding**: TBR1 binds to specific DNA sequences and regulates gene expression through transcriptional control. * **Transcriptional regulation**: TBR1 regulates the expression of genes involved in brain development, including those involved in axon guidance, neuron projection development, and conditioned taste aversion. * **Heterodimerization**: TBR1 can form heterodimers with other transcription factors, such as TBP and TFE3, to regulate gene expression. **Pathways and Functions** TBR1 is involved in various pathways and functions, including: * **Brain development**: TBR1 regulates the development of brain regions, including the cerebral cortex, amygdala, and hindbrain. * **Cell fate specification**: TBR1 specifies the fate of neurons and glial cells, influencing their differentiation and function. * **Neuron projection development**: TBR1 regulates the development of axons and dendrites, influencing neuron projection and connectivity. * **Conditioned taste aversion**: TBR1 is involved in the regulation of conditioned taste aversion, a complex behavior that involves the interaction of multiple neural circuits. * **Gene expression regulation**: TBR1 regulates the expression of genes involved in various cellular processes, including cell growth, differentiation, and survival. **Clinical Significance** Dysregulation of TBR1 has been implicated in various neurological disorders, including: * **Neurodevelopmental disorders**: TBR1 mutations have been associated with neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability. * **Neurodegenerative disorders**: TBR1 has been implicated in neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. * **Cancer**: TBR1 has been identified as a potential oncogene, with its dysregulation contributing to cancer development and progression. In conclusion, TBR1 is a critical transcription factor that plays a vital role in brain development, cell fate specification, and gene expression regulation. Its dysregulation has been implicated in various neurological disorders, highlighting the importance of further research into the mechanisms of TBR1 function and its clinical significance.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

T-box brain protein 1

Genular Protein ID: 659532192

Symbol: TBR1_HUMAN

Name: T-box brain protein 1

UniProtKB Accession Codes:

Q16650 B0AZS4 B2R6G5 Q14DC5 Q53TH0 Q56A81

Database IDs:

Citations:

PubMed ID: 7619531

Title: T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex.

PubMed ID: 7619531

DOI: 10.1016/0896-6273(95)90065-9

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 25232744

Title: De novo TBR1 mutations in sporadic autism disrupt protein functions.

PubMed ID: 25232744

DOI: 10.1038/ncomms5954

PubMed ID: 30268909

Title: Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

PubMed ID: 30268909

DOI: 10.1016/j.ejmg.2018.09.012

PubMed ID: 30250039

Title: Functional characterization of TBR1 variants in neurodevelopmental disorder.

PubMed ID: 30250039

DOI: 10.1038/s41598-018-32053-6

PubMed ID: 14593429

Title: Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.

PubMed ID: 14593429

DOI: 10.1038/sj.mp.4001340

PubMed ID: 22495311

Title: Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PubMed ID: 22495311

DOI: 10.1038/nature11011

PubMed ID: 23160955

Title: Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PubMed ID: 23160955

DOI: 10.1126/science.1227764

PubMed ID: 25418537

Title: Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

PubMed ID: 25418537

DOI: 10.1038/ncomms6595

PubMed ID: 25363760

Title: Synaptic, transcriptional and chromatin genes disrupted in autism.

PubMed ID: 25363760

DOI: 10.1038/nature13772

PubMed ID: 25356899

Title: De novo mutations in moderate or severe intellectual disability.

PubMed ID: 25356899

DOI: 10.1371/journal.pgen.1004772

Sequence Information:

Length: 682
Mass: 74053
Checksum: E1C8D84206EFBBB5
Sequence:

MQLEHCLSPS IMLSKKFLNV SSSYPHSGGS ELVLHDHPII STTDNLERSS PLKKITRGMT 
NQSDTDNFPD SKDSPGDVQR SKLSPVLDGV SELRHSFDGS AADRYLLSQS SQPQSAATAP 
SAMFPYPGQH GPAHPAFSIG SPSRYMAHHP VITNGAYNSL LSNSSPQGYP TAGYPYPQQY 
GHSYQGAPFY QFSSTQPGLV PGKAQVYLCN RPLWLKFHRH QTEMIITKQG RRMFPFLSFN 
ISGLDPTAHY NIFVDVILAD PNHWRFQGGK WVPCGKADTN VQGNRVYMHP DSPNTGAHWM 
RQEISFGKLK LTNNKGASNN NGQMVVLQSL HKYQPRLHVV EVNEDGTEDT SQPGRVQTFT 
FPETQFIAVT AYQNTDITQL KIDHNPFAKG FRDNYDTIYT GCDMDRLTPS PNDSPRSQIV 
PGARYAMAGS FLQDQFVSNY AKARFHPGAG AGPGPGTDRS VPHTNGLLSP QQAEDPGAPS 
PQRWFVTPAN NRLDFAASAY DTATDFAGNA ATLLSYAAAG VKALPLQAAG CTGRPLGYYA 
DPSGWGARSP PQYCGTKSGS VLPCWPNSAA AAARMAGANP YLGEEAEGLA AERSPLPPGA 
AEDAKPKDLS DSSWIETPSS IKSIDSSDSG IYEQAKRRRI SPADTPVSES SSPLKSEVLA 
QRDCEKNCAK DISGYYGFYS HS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: TBR1

Associated with

Cells (max top 100)

Other Information

T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex. PubMed ID: 7619531

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. PubMed ID: 15815621

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

De novo TBR1 mutations in sporadic autism disrupt protein functions. PubMed ID: 25232744

Mutations in TBR1 gene leads to cortical malformations and intellectual disability. PubMed ID: 30268909

Functional characterization of TBR1 variants in neurodevelopmental disorder. PubMed ID: 30250039

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene. PubMed ID: 14593429

Patterns and rates of exonic de novo mutations in autism spectrum disorders. PubMed ID: 22495311

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. PubMed ID: 23160955

Recurrent de novo mutations implicate novel genes underlying simplex autism risk. PubMed ID: 25418537

Synaptic, transcriptional and chromatin genes disrupted in autism. PubMed ID: 25363760

De novo mutations in moderate or severe intellectual disability. PubMed ID: 25356899