Entity Details

Primary name TBX19_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60806
EntryNameTBX19_HUMAN
FullNameT-box transcription factor TBX19
TaxID9606
Evidenceevidence at protein level
Length448
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesTBX19

GO terms

Show/Hide Table
GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001707 mesoderm formation
GO:0001708 cell fate specification
GO:0001756 somitogenesis
GO:0003007 heart morphogenesis
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0009653 anatomical structure morphogenesis
GO:0021983 pituitary gland development
GO:0042127 regulation of cell population proliferation
GO:0045595 regulation of cell differentiation
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

Show/Hide Table
Subcellular Location
Nucleus

Domains

Show/Hide Table
DomainNameCategoryType
IPR001699 Transcription factor, T-boxFamilyFamily
IPR002070 Transcription factor, BrachyuryFamilyFamily
IPR008967 p53-like transcription factor, DNA-bindingFamilyHomologous superfamily
IPR018186 Transcription factor, T-box, conserved siteSiteConserved site
IPR036960 T-box superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
201400 OMIMACTH deficiency, isolated (IAD)An autosomal recessive disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low. The disease is caused by variants affecting the gene represented in this entry.