TBX6

Protein identityUniProt · HPA

UniProt accession

O95947

Gene

TBX6

Ensembl

ENSG00000149922

Chromosome

16

Canonical length

436 aa

Protein class

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

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]

Canonical amino-acid sequenceUniProt

436 residues, UniProt reviewed canonical sequence.

>O95947|TBX6
     1  MYHPRELYPS LGAGYRLGPA QPGADSSFPP ALAEGYRYPE LDTPKLDCFL SGMEAAPRTL
    61  AAHPPLPLLP PAMGTEPAPS APEALHSLPG VSLSLENREL WKEFSSVGTE MIITKAGRRM
   121  FPACRVSVTG LDPEARYLFL LDVIPVDGAR YRWQGRRWEP SGKAEPRLPD RVYIHPDSPA
   181  TGAHWMRQPV SFHRVKLTNS TLDPHGHLIL HSMHKYQPRI HLVRAAQLCS QHWGGMASFR
   241  FPETTFISVT AYQNPQITQL KIAANPFAKG FRENGRNCKR ERDARVKRKL RGPEPAATEA
   301  YGSGDTPGGP CDSTLGGDIR ESDPEQAPAP GEATAAPAPL CGGPSAEAYL LHPAAFHGAP
   361  SHLPTRSPSF PEAPDSGRSA PYSAAFLELP HGSGGSGYPA APPAVPFAPH FLQGGPFPLP
   421  YTAPGGYLDV GSKPMY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBX6 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)

0.5

Highest tissue expression

13 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBX6.

Disease | AllUniProt

Conditions TBX6 is implicated in, by any mechanism.

• Spondylocostal dysostosis 5 (SCDO5) MIM:122600

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 334 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spondylocostal dysostosis 5
• Scoliosis
• TBX6-related disorder
• Spondylocostal dysostosis 2, autosomal recessive
• Inborn genetic diseases

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)

0.69

gnomAD pLI

0.01

gnomAD missense Z

0.54

DepMap mean gene effect

-0.18

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure morphogenesis
• cell fate specification
• mesoderm development
• mesodermal cell fate specification
• negative regulation of neuron maturation
• negative regulation of neuron projection development
• negative regulation of transcription by RNA polymerase II
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• signal transduction involved in regulation of gene expression
• somite rostral/caudal axis specification

Molecular functions

• DNA binding
• 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
• 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

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

InteractionsUniProt · HPA

Protein binding partners of TBX6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• C1orf94
• RBPMS
• TOX4