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
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.
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.