| Entrez Gene ID | 50945 |
|---|---|
| Official Gene Symbol | TBX22 (GeneCards) |
| Full name | T-box 22 |
| Location | Xq21.1 |
| Other ids | Vega : OTTHUMG00000021901 MIM : 300307 HGNC : HGNC:11600 Ensembl : ENSG00000122145 |
| Other names | CPX, CLPA, TBXX, ABERS, dJ795G23.1 |
| 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] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1064 | 50945 | TBX22 | X | 79278675 | 79278675 | Human Skin Fibroblasts | HiSeq 2500 |
| 22280 | 50945 | TBX22 | X | 79395993 | 79395993 | Cockayne syndrome | HiSeq 2500 HiSeq X Ten |
| 28792 | 50945 | TBX22 | X | 79349344 | 79349344 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 29027 | 50945 | TBX22 | X | 79445984 | 79445984 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |