Entity Details

Primary name TBX22
Entity type gene
Source Source Link

Details

PrimaryID50945
RefseqGeneNG_008998
SymbolTBX22
NameT-box transcription factor 22
ChromosomeX
LocationXq21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-09
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTBX22_HUMAN

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

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.