TBX20

Protein identityUniProt · HPA

UniProt accession

Q9UMR3

Gene

TBX20

Ensembl

ENSG00000164532

Chromosome

7

Canonical length

447 aa

Protein class

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

Subcellular location

Nucleoli fibrillar center

OverviewNCBI Gene

This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

447 residues, UniProt reviewed canonical sequence.

>Q9UMR3|TBX20
     1  MEFTASPKPQ LSSRANAFSI AALMSSGGSK EKEATENTIK PLEQFVEKSS CAQPLGELTS
    61  LDAHGEFGGG SGSSPSSSSL CTEPLIPTTP IIPSEEMAKI ACSLETKELW DKFHELGTEM
   121  IITKSGRRMF PTIRVSFSGV DPEAKYIVLM DIVPVDNKRY RYAYHRSSWL VAGKADPPLP
   181  ARLYVHPDSP FTGEQLLKQM VSFEKVKLTN NELDQHGHII LNSMHKYQPR VHIIKKKDHT
   241  ASLLNLKSEE FRTFIFPETV FTAVTAYQNQ LITKLKIDSN PFAKGFRDSS RLTDIERESV
   301  ESLIQKHSYA RSPIRTYGGE EDVLGDESQT TPNRGSAFTT SDNLSLSSWV SSSSSFPGFQ
   361  HPQSLTALGT STASIATPIP HPIQGSLPPY SRLGMPLTPS AIASSMQGSG PTFPSFHMPR
   421  YHHYFQQGPY AAIQGLRHSS AVMTPFV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBX20 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)

0.51

Highest tissue expression

37 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBX20.

Disease | AllUniProt

Conditions TBX20 is implicated in, by any mechanism.

• Atrial septal defect 4 (ASD4) MIM:611363

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 757 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cardiovascular phenotype
• Atrial septal defect 4
• Hypoplastic right heart syndrome
• Hypoplastic left heart syndrome
• Wolff-Parkinson-White pattern

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)

0.32

gnomAD pLI

0.97

gnomAD missense Z

1.68

DepMap mean gene effect

0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aortic valve morphogenesis
• atrial septum morphogenesis
• atrioventricular canal development
• atrioventricular valve development
• blood circulation
• branching involved in blood vessel morphogenesis
• cardiac chamber formation
• cardiac muscle tissue morphogenesis
• cardiac right ventricle morphogenesis
• cardiac septum development
• cell fate specification
• cell population proliferation
• dorsal/ventral pattern formation
• embryonic heart tube morphogenesis
• endocardial cushion formation
• endocardial cushion morphogenesis
• endoderm formation
• foramen ovale closure
• heart looping
• mesenchymal cell development
• motor neuron migration
• muscle contraction
• negative regulation of DNA-templated transcription
• negative regulation of SMAD protein signal transduction
• negative regulation of transcription by RNA polymerase II
• outflow tract septum morphogenesis
• pericardium morphogenesis
• positive regulation of apoptotic process
• positive regulation of BMP signaling pathway
• positive regulation of cardiac muscle cell proliferation
• positive regulation of cell cycle process
• positive regulation of epithelial to mesenchymal transition
• pulmonary valve formation
• pulmonary vein morphogenesis
• regulation of transcription by RNA polymerase II
• visceral motor neuron differentiation
• embryonic heart tube elongation
• lateral mesoderm formation
• tricuspid valve development

Molecular functions

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

Cellular components

• chromatin
• cytoplasm
• 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

• Atrial septal defect
• Cardiomyopathy
• Developmental protein
• DNA-binding
• Nucleus
• Transcription
• Transcription regulation