TBXT (T-box transcription factor T)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 6862
Gene name T-box transcription factor T
Gene symbol TBXT
Synonyms (NCBI Gene)
SAVATTFT
Chromosome 6
Chromosome location 6q27
Summary 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.
2
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 Transcription factors information provided by TRRUST V2 database.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601397 11515 ENSG00000164458
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
18
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome Pathogenic rs587777303 RCV000114433
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly-thin corpus callosum-intellectual disability syndrome Benign rs2305089 RCV001815598
Neural tube defect Uncertain significance rs774760380 RCV001682621
Neural tube defects, susceptibility to Uncertain significance; risk factor rs1248179925, rs3127334, rs373379157 RCV005863486
RCV000008660
RCV005399314
TBXT-related disorder Benign; Likely benign; Uncertain significance rs1056048, rs200879575, rs757063703, rs3816300, rs2482963495, rs189940844, rs369470652, rs117097130 RCV003976146
RCV003907104
RCV003981430
RCV003967376
RCV003951361
RCV003951520
RCV003921997
RCV003915431
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease 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