Entity Details

Primary name TBX22_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y458
EntryNameTBX22_HUMAN
FullNameT-box transcription factor TBX22
TaxID9606
Evidenceevidence at protein level
Length520
SequenceStatuscomplete
DateCreated2001-01-11
DateModified2021-06-02

Ontological Relatives

GenesTBX22

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001708 cell fate specification
GO:0001947 heart looping
GO:0003677 DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007275 multicellular organism development
GO:0045892 negative regulation of transcription, DNA-templated

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001699 Transcription factor, T-boxFamilyFamily
IPR008967 p53-like transcription factor, DNA-bindingFamilyHomologous superfamily
IPR018186 Transcription factor, T-box, conserved siteSiteConserved site
IPR036960 T-box superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
303400 OMIMCleft palate with or without ankyloglossia, X-linked (CPX)A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue. The disease is caused by variants affecting the gene represented in this entry.
302905 OMIMAbruzzo-Erickson syndrome (ABERS)A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. The disease is caused by variants affecting the gene represented in this entry.