TBXT

Protein identityUniProt · HPA

UniProt accession

O15178

Gene

TBXT

Ensembl

ENSG00000164458

Chromosome

6

Canonical length

435 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI 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 mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018]

Canonical amino-acid sequenceUniProt

435 residues, UniProt reviewed canonical sequence.

>O15178|TBXT
     1  MSSPGTESAG KSLQYRVDHL LSAVENELQA GSEKGDPTER ELRVGLEESE LWLRFKELTN
    61  EMIVTKNGRR MFPVLKVNVS GLDPNAMYSF LLDFVAADNH RWKYVNGEWV PGGKPEPQAP
   121  SCVYIHPDSP NFGAHWMKAP VSFSKVKLTN KLNGGGQIML NSLHKYEPRI HIVRVGGPQR
   181  MITSHCFPET QFIAVTAYQN EEITALKIKY NPFAKAFLDA KERSDHKEMM EEPGDSQQPG
   241  YSQWGWLLPG TSTLCPPANP HPQFGGALSL PSTHSCDRYP TLRSHRSSPY PSPYAHRNNS
   301  PTYSDNSPAC LSMLQSHDNW SSLGMPAHPS MLPVSHNASP PTSSSQYPSL WSVSNGAVTP
   361  GSQAAAVSNG LGAQFFRGSP AHYTPLTHPV SAPSSSGSPL YEGAAAATDI VDSQYDAAAQ
   421  GRLIASWTPV SPPSM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBXT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.52

Highest tissue expression

2.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBXT.

Disease | AllUniProt

Conditions TBXT is implicated in, by any mechanism.

• Neural tube defects (NTD) MIM:182940
• Chordoma (CHDM) MIM:215400
• Sacral agenesis with vertebral anomalies (SAVA) MIM:615709

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 58 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.65

gnomAD pLI

0.02

DepMap mean gene effect

0.09

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anterior/posterior axis specification, embryo
• cardiac muscle cell myoblast differentiation
• cell fate specification
• heart morphogenesis
• mesoderm development
• mesoderm formation
• negative regulation of transcription by RNA polymerase II
• positive regulation of transcription by RNA polymerase II
• primitive streak formation
• regulation of transcription by RNA polymerase II
• signal transduction
• somitogenesis

Molecular functions

• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II-specific DNA-binding transcription factor binding
• sequence-specific double-stranded DNA binding
• transcription corepressor activity

Cellular components

• chromatin
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• T-box transcription factor
• Transcription factor, Brachyury
• p53-like transcription factor, DNA-binding domain superfamily
• Transcription factor, T-box, conserved site
• T-box superfamily
• T-box transcription factor, DNA-binding domain
• T-box

KeywordsUniProt

• Activator
• Developmental protein
• DNA-binding
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of TBXT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NFIA
• NFIB