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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 nameGene Name - the full gene name approved by the HGNC.
T-box transcription factor T
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TBXT
SynonymsGene synonyms aliases
SAVA, T, TFT
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q27
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
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
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
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
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 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 21632880
Other IDsOther 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
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
Sequence 
MSSPGTESAGKSLQYRVDHLLSAVENELQAGSEKGDPTERELRVGLEESELWLRFKELTN
EMIVTKNGRRMFPVLKVNVSGLDPNAMYSFLLDFVAADNHRWKYVNGEWVPGGKPEPQAP
SCVYIHPDSPNFGAHWMKAPVSFSKVKLTNKLNGGGQIMLNSLHKYEPRIHIVRVGGPQR
MITSHCFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERSDHKEMMEEPGDSQQPG
YSQWGWLLPGTSTLCPPANPHPQFGGALSLPSTHSCDRYPTLRSHRSSPYPSPYAHRNNS
PTYSDNSPACLSMLQSHDNWSSLGMPAHPSMLPVSHNASPPTSSSQYPSLWSVSNGAVTP
GSQAAAVSNGLGAQFFRGSPAHYTPLTHPVSAPSSSGSPLYEGAAAATDIVDSQYDAAAQ
GRLIASWTPVSPPSM
Sequence length 435
Interactions View interactions
Associated diseases
Gene SNPs Transcription factors Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anencephaly Anencephaly, Iniencephaly, Exencephaly rs773607884
Chordoma Chordoma, familial chordoma rs80359391 23064415, 19801981
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Neural tube defect Neural Tube Defects rs121918220, rs121434297, rs137853061, rs137853062, rs3127334, rs267607167, rs267607168, rs387907204, rs139365610, rs137955120, rs786201015, rs786201016, rs768434408, rs777661576, rs747846362, rs200137991, rs780014899, rs574132670, rs786204013, rs147257424, rs763539350, rs776483190, rs757259023, rs781461462, rs762921297, rs1114167354, rs557643577, rs147277149, rs765586205, rs377443637, rs1563593163, rs1303000329, rs1565818580, rs986604359, rs1293600145, rs114727354, rs146357218, rs768980918, rs140277700, rs139645527, rs750323424, rs368321176, rs1579619636, rs893229476, rs754990692, rs763079713, rs1593037878, rs747100389, rs372056091, rs1593083585, rs778121031, rs748778907, rs776969786, rs1189298981, rs375908206, rs1734858651, rs778738842
Unknown
Disease name Disease term dbSNP ID References
Acrania Acrania
Cervical spina bifida aperta Cervical spina bifida aperta
Cervical spina bifida cystica Cervical spina bifida cystica
Cervicothoracic spina bifida Cervicothoracic spina bifida cystica, Cervicothoracic spina bifida aperta

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