TBXT
entrez
6862
canonical
uniprot
O15178
canonical
ensembl
ENSG00000164458
resolver
ensp
ENSP00000296946
resolver
ensp
ENSP00000355836
resolver
ensp
ENSP00000355841
resolver
ensp
ENSP00000592092
resolver
enst
ENST00000366876
resolver
genesymbol
TBXT
resolver
genesymbol_syn
T
resolver
hgnc
HGNC:11515
resolver
uniprot
E7ERD6
resolver
uniprot
J3KP65
resolver
uniprot
Q4KMP4
resolver
uniprot_entry
J3KP65_HUMAN
resolver
uniprot_entry
TBXT_HUMAN
resolver
uniprot_sec
E7ERD6
resolver
uniprot_sec
Q4KMP4
resolver
amino_acid_sequence
MSSPGTESAGKSLQYRVDHLLSAVENELQAGSEKGDPTERELRVGLEESELWLRFKELTNEMIVTKNGRRMFPVLKVNVSGLDPNAMYSFLLDFVAADNHRWKYVNGEWVPGGKPEPQAPSCVYIHPDSPNFGAHWMKAPVSFSKVKLTNKLNGGGQIMLNSLHKYEPRIHIVRVGGPQRMITSHCFPETQFIAVTAYQNEEITALKIKYNPFAKAFLDAKERSDHKEMMEEPGDSQQPGYSQWGWLLPGTSTLCPPANPHPQFGGALSLPSTHSCDRYPTLRSHRSSPYPSPYAHRNNSPTYSDNSPACLSMLQSHDNWSSLGMPAHPSMLPVSHNASPPTSSSQYPSLWSVSNGAVTPGSQAAAVSNGLGAQFFRGSPAHYTPLTHPVSAPSSSGSPLYEGAAAATDIVDSQYDAAAQGRLIASWTPVSPPSM
uniprot
proteins
disease_involvement
DISEASE: Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. {ECO:0000269|PubMed:15449172, ECO:0000269|PubMed:30237576}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Chordoma (CHDM) [MIM:215400]: Rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread. {ECO:0000269|PubMed:19801981}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Susceptibility to development of chordomas is due to a T gene duplication.; DISEASE: Sacral agenesis with vertebral anomalies (SAVA) [MIM:615709]: A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development. {ECO:0000269|PubMed:24253444}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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|UniProtKB:P20293}.
uniprot
proteins
mass_dalton
47443
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15449172
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19801981
uniprot
proteins
pubmed
22611028
uniprot
proteins
pubmed
24253444
uniprot
proteins
pubmed
30237576
uniprot
proteins
pubmed
8963900
uniprot
proteins
sequence_length
435
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22611028, ECO:0000269|PubMed:24253444}.
uniprot
proteins