TBX22

TBX22
Identifiers
Aliases	TBX22, ABERS, CLPA, CPX, TBXX, dJ795G23.1, T-box 22, T-box transcription factor 22
External IDs	OMIM: 300307; MGI: 2389465; HomoloGene: 9666; GeneCards: TBX22; OMA:TBX22 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	80,031,774 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	106,732,584 bp
RNA expression pattern
	Top expressed in
	left testis; ; right testis; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; gonad; ; right auricle of heart; ; Descending thoracic aorta; ; popliteal artery; ; tibial arteries; ; ascending aorta;
	Top expressed in
	tongue; ; nasal septum; ; ciliary body; ; olfactory gland; ; iris; ; mandibular prominence; ; maxillary prominence; ; medial nasal prominence; ; oral mucosa; ; spermatocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA-binding transcription factor activity; DNA binding; protein binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleus;
Biological process	multicellular organism development; negative regulation of transcription, DNA-templated; regulation of transcription, DNA-templated; negative regulation of transcription by RNA polymerase II; transcription, DNA-templated;
	Sources:Amigo / QuickGO
Orthologs
	50945
	245572
	ENSG00000277800; ENSG00000122145
	ENSMUSG00000031241
	Q9Y458
	Q8K402
	NM_001109878; NM_001109879; NM_001303475; NM_016954
	NM_001290747; NM_145224; NM_181319
	NP_001103348; NP_001103349; NP_001290404; NP_058650
	NP_001277676; NP_660259; NP_851836
	Wikidata
View/Edit Human	View/Edit Mouse

T-box transcription factor TBX22 is a protein that in humans is encoded by the TBX22 gene.

TBX22 is a member of a phylogenetically conserved family of proteins that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, cleft palate with ankyloglossia (tongue-tie), and it is believed to play a major role in human palatogenesis. It has previously been mapped to the long arm of the X chromosome and it has now been demonstrated that mutations in the gene TBX22 are the cause of this syndrome. TBX22 mutations also result in non-syndromic cleft palate in some populations.

TBX22 is composed of seven exons spanning 8.7 kilobases of genomic DNA in Xq21.1. The TBX22 mRNA is 2099 base pairs long and encodes a 400-amino-acids protein containing a T-domain in its NH₂-terminal region which has the unique feature of missing 20 amino-acids relative to the other known T-domains.