TBX19

Protein identityUniProt · HPA

UniProt accession

O60806

Gene

TBX19

Ensembl

ENSG00000143178

Chromosome

1

Canonical length

448 aa

Protein class

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

Subcellular location

Nuclear speckles

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. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

448 residues, UniProt reviewed canonical sequence.

>O60806|TBX19
     1  MAMSELGTRK PSDGTVSHLL NVVESELQAG REKGDPTEKQ LQIILEDAPL WQRFKEVTNE
    61  MIVTKNGRRM FPVLKISVTG LDPNAMYSLL LDFVPTDSHR WKYVNGEWVP AGKPEVSSHS
   121  CVYIHPDSPN FGAHWMKAPI SFSKVKLTNK LNGGGQIMLN SLHKYEPQVH IVRVGSAHRM
   181  VTNCSFPETQ FIAVTAYQNE EITALKIKYN PFAKAFLDAK ERNHLRDVPE AISESQHVTY
   241  SHLGGWIFSN PDGVCTAGNS NYQYAAPLPL PAPHTHHGCE HYSGLRGHRQ APYPSAYMHR
   301  NHSPSVNLIE SSSNNLQVFS GPDSWTSLSS TPHASILSVP HTNGPINPGP SPYPCLWTIS
   361  NGAGGPSGPG PEVHASTPGA FLLGNPAVTS PPSVLSTQAP TSAGVEVLGE PSLTSIAVST
   421  WTAVASHPFA GWGGPGAGGH HSPSSLDG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBX19 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

48 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBX19.

Disease | AllUniProt

Conditions TBX19 is implicated in, by any mechanism.

• ACTH deficiency, isolated (IAD) MIM:201400

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 231 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital isolated adrenocorticotropic hormone deficiency
• TBX19-related disorder
• Inborn genetic diseases
• See cases

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)

0.98

gnomAD pLI

0

gnomAD missense Z

0.56

DepMap mean gene effect

0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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
• heart morphogenesis
• mesoderm formation
• pituitary gland development
• regulation of cell differentiation
• regulation of cell population proliferation
• regulation of transcription by RNA polymerase II

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
• sequence-specific double-stranded DNA binding

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

• Activator
• DNA-binding
• Nucleus
• Repressor
• Transcription
• Transcription regulation