Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
TBX22 T-box transcription factor 22	CPX , CLPA , TBXX , ABERS , dJ795G23.1	Homo sapiens	9	protein-coding	TBX15 , TBX18 , TBX4 , TBX5 , MGA , TBX10 , TBX1 , TBX3 , TBX2 , TBX19 , TBXT , TBX21 , EOMES , TBR1 , TBX6 , TBX20		300307

Summary

This gene is a member of a phylogenetically conserved family of genes 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, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0003677	enables DNA binding	IDA

Component (4)

Go ID	Value	Evidence
0000785	part_of chromatin	IBA
0000785	part_of chromatin	ISA
0005634	is_active_in nucleus	IBA
0005634	located_in nucleus	IDA

Process (5)

Go ID	Value	Evidence
0001708	involved_in cell fate specification	IBA
0045892	involved_in negative regulation of DNA-templated transcription	IDA
0000122	involved_in negative regulation of transcription by RNA polymerase II	IDA
0045893	involved_in positive regulation of DNA-templated transcription	IEA
0006357	involved_in regulation of transcription by RNA polymerase II	IBA

Gene Loss events - TBX22 (3 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_4OLYYQ	Chrysochloris asiatica	Afrosoricida	LOF (frameshift, premature stop, ss)	Full	No	10.1093/nargab/lqz012
GL_CZV1WO	Canis lupus familiaris	Carnivora	Gene deletion	Full	No	10.1093/nargab/lqz012
GL_SBRDQN	Cavia porcellus	Rodentia	Gene deletion	Full	No	10.1093/nargab/lqz012