TBR1 | ENSG00000136535 | NCBI 10716

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)

Other Information

Proteins

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

The gene details are incomplete or unavailable at the moment.

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

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