TBXT (T-box transcription factor T)

Gene
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6862
Gene name Gene Name - the full gene name approved by the HGNC.
T-box transcription factor T
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBXT
Synonyms (NCBI Gene) Gene synonyms aliases
SAVA, T, TFT
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q27
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for meso
SNPs SNP information provided by dbSNP.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs3127334 G>A,C Risk-factor Intron variant
rs587777303 T>C Pathogenic Missense variant, coding sequence variant
Transcription factors
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
POU5F1 Repression 17068183
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(37)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin IDA 21632880
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601397 11515 ENSG00000164458
Protein
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID O15178
Protein name T-box transcription factor T (Brachyury protein) (Protein T)
Protein function Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence and activates gene transcription when bound to such a site. {ECO:0000250
PDB 5QRF , 5QRG , 5QRH , 5QRI , 5QRJ , 5QRK , 5QRL , 5QRM , 5QRN , 5QRO , 5QRP , 5QRQ , 5QRR , 5QRS , 5QRT , 5QRU , 5QRV , 5QRW , 5QRX , 5QRY , 5QRZ , 5QS0 , 5QS1 , 5QS2 , 5QS3 , 5QS4 , 5QS5 , 5QS6 , 5QS7 , 5QS8 , 5QS9 , 5QSA , 5QSB , 5QSC , 5QSD , 5QSE , 5QSF , 5QSG , 5QSH , 5QSI , 5QSJ , 5QSK , 5QSL , 5QT0 , 6F58 , 6F59 , 6ZU8 , 7HI8 , 7HI9 , 7ZK2 , 7ZKF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00907 T-box 44 → 219 T-box Domain
Tissue specificity TISSUE SPECIFICITY: Detected in testis, but not in other, normal tissues. Detected in lung tumors (at protein level). {ECO:0000269|PubMed:22611028, ECO:0000269|PubMed:30237576}.
Sequence 
MSSPGTESAGKSLQYRVDHLLSAVENELQAGSEKGDPTERELRVGLEESELWLRFKELTN
EMIVTKNGRRMFPVLKVNVSGLDPNAMYSFLLDFVAADNHRWKYVNGEWVPGGKPEPQAP
SCVYIHPDSPNFGAHWMKAPVSFSKVKLTNKLNGGGQIMLNSLHKYEPRIHIVRVGGPQR
MITSHCFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERSDHKEMMEEPGDSQQPG
YSQWGWLLPGTSTLCPPANPHPQFGGALSLPSTHSCDRYPTLRSHRSSPYPSPYAHRNNS
PTYSDNSPACLSMLQSHDNWSSLGMPAHPSMLPVSHNASPPTSSSQYPSLWSVSNGAVTP
GSQAAAVSNGLGAQFFRGSPAHYTPLTHPVSAPSSSGSPLYEGAAAATDIVDSQYDAAAQ
GRLIASWTPVSPPSM
Sequence length 435
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Sacral Agenesis-Abnormal Ossification Of The Vertebral Bodies-Persistent Notochordal Canal Syndrome sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome rs587777303 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Neural Tube Defect Neural tube defects, susceptibility to N/A N/A ClinVar
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Chordoma Associate 24232574, 24990759, 27248133, 27663388, 27901492, 34837714, 40323130
Neoplasms Associate 40323130
Neoplasms Basal Cell Associate 40323130
Skull Base Neoplasms Associate 27901492
Spinal Dysraphism Associate 21204206