Entity Details

Primary name TBX2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13207
EntryNameTBX2_HUMAN
FullNameT-box transcription factor TBX2
TaxID9606
Evidenceevidence at protein level
Length712
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesTBX2

GO terms

Show/Hide Table
GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
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:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001708 cell fate specification
GO:0001947 heart looping
GO:0003148 outflow tract septum morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0003203 endocardial cushion morphogenesis
GO:0003256 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation
GO:0003272 endocardial cushion formation
GO:0003677 DNA binding
GO:0005634 nucleus
GO:0005667 transcription regulator complex
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007219 Notch signaling pathway
GO:0007521 muscle cell fate determination
GO:0007569 cell aging
GO:0008016 regulation of heart contraction
GO:0008284 positive regulation of cell population proliferation
GO:0035050 embryonic heart tube development
GO:0035909 aorta morphogenesis
GO:0036302 atrioventricular canal development
GO:0042733 embryonic digit morphogenesis
GO:0043565 sequence-specific DNA binding
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048596 embryonic camera-type eye morphogenesis
GO:0048738 cardiac muscle tissue development
GO:0051145 smooth muscle cell differentiation
GO:0060021 roof of mouth development
GO:0060045 positive regulation of cardiac muscle cell proliferation
GO:0060465 pharynx development
GO:0060560 developmental growth involved in morphogenesis
GO:0060596 mammary placode formation
GO:0072105 ureteric peristalsis
GO:0090398 cellular senescence
GO:1901208 negative regulation of heart looping
GO:1901211 negative regulation of cardiac chamber formation
GO:1905072 cardiac jelly development
GO:1905222 atrioventricular canal morphogenesis
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
IPR022582 Transcription factor, T-box, region of unknown functionDomainDomain
IPR036960 T-box superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
618223 OMIMVertebral anomalies and variable endocrine and T-cell dysfunction (VETD)An autosomal dominant syndrome characterized by skeletal malformations primarily involving the vertebrae, immunodeficiency, endocrine abnormalities such as hypoparathyroidism and growth hormone deficiency, craniofacial dysmorphism, congenital cardiac anomalies consisting of double-outlet right ventricle, pulmonary valve stenosis and atrial septal defect, and developmental impairments. The disease is caused by variants affecting the gene represented in this entry.