TBX21

Protein identityUniProt · HPA

UniProt accession

Q9UL17

Gene

TBX21

Ensembl

ENSG00000073861

Chromosome

17

Canonical length

535 aa

Protein class

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

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. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

535 residues, UniProt reviewed canonical sequence.

>Q9UL17|TBX21
     1  MGIVEPGCGD MLTGTEPMPG SDEGRAPGAD PQHRYFYPEP GAQDADERRG GGSLGSPYPG
    61  GALVPAPPSR FLGAYAYPPR PQAAGFPGAG ESFPPPADAE GYQPGEGYAA PDPRAGLYPG
   121  PREDYALPAG LEVSGKLRVA LNNHLLWSKF NQHQTEMIIT KQGRRMFPFL SFTVAGLEPT
   181  SHYRMFVDVV LVDQHHWRYQ SGKWVQCGKA EGSMPGNRLY VHPDSPNTGA HWMRQEVSFG
   241  KLKLTNNKGA SNNVTQMIVL QSLHKYQPRL HIVEVNDGEP EAACNASNTH IFTFQETQFI
   301  AVTAYQNAEI TQLKIDNNPF AKGFRENFES MYTSVDTSIP SPPGPNCQFL GGDHYSPLLP
   361  NQYPVPSRFY PDLPGQAKDV VPQAYWLGAP RDHSYEAEFR AVSMKPAFLP SAPGPTMSYY
   421  RGQEVLAPGA GWPVAPQYPP KMGPASWFRP MRTLPMEPGP GGSEGRGPED QGPPLVWTEI
   481  APIRPESSDS GLGEGDSKRR RVSPYPSSGD SSSPAGAPSP FDKEAEGQFY NYFPN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBX21 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)

0.57

Highest tissue expression

11 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBX21.

Disease | AllUniProt

Conditions TBX21 is implicated in, by any mechanism.

• Asthma, with nasal polyps and aspirin intolerance (ANPAI) MIM:208550
• Immunodeficiency 88 (IMD88) MIM:619630

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 81 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Immunodeficiency 88

Disease | ImmuneIEDB

Conditions an epitope on TBX21 was assayed in.

• narcolepsy B cell
• multiple sclerosis B cell
• peripheral nervous system disease B cell

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)

0.23

gnomAD pLI

1

gnomAD missense Z

1.4

DepMap mean gene effect

-0.1

DepMap dependency class

selective

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

• cell fate specification
• lymphocyte migration
• negative regulation of DNA-templated transcription
• negative regulation of interleukin-2 production
• negative regulation of T-helper 17 cell differentiation
• negative regulation of T-helper 17 cell lineage commitment
• negative regulation of T-helper 2 cell cytokine production
• negative regulation of transcription by RNA polymerase II
• positive regulation of DNA-templated transcription
• positive regulation of isotype switching to IgG isotypes
• positive regulation of T-helper 1 cell cytokine production
• positive regulation of transcription by RNA polymerase II
• proteasome-mediated ubiquitin-dependent protein catabolic process
• regulation of T cell differentiation
• regulation of transcription by RNA polymerase II
• response to virus
• T-helper 1 cell lineage commitment

Molecular functions

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

Cellular components

• chromatin
• neuronal cell body
• nucleus

Protein domainsUniProt · Pfam · InterPro

• T-box transcription factor
• 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
• Asthma
• DNA-binding
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Repressor
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of TBX21 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ABL1
• CCTN1
• CDK9
• GATA3
• ITK
• KDM6B
• NFATC2
• RELA
• RUNX1
• RUNX3
• SMARCA4
• USP10
• CCNT1