Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 50945
MIM: 300307
HGNC: 11600
Ensembl: ENSG00000122145
Variants:
dbSNP: 50945
ClinVar: 50945
TCGA: ENSG00000122145
COSMIC: TBX22
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000122145 | ENST00000373294 | Q9Y458 |
| ENSG00000122145 | ENST00000373296 | Q9Y458 |
| ENSG00000122145 | ENST00000626498 | A0A0D9SGI2 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36901693 | 2023 | A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22. | 0 |
| 36901693 | 2023 | A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22. | 0 |
| 29932061 | 2018 | Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families. | 3 |
| 29932061 | 2018 | Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families. | 3 |
| 25373698 | 2015 | Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate. | 5 |
| 25918826 | 2015 | Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women. | 2 |
| 25373698 | 2015 | Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate. | 5 |
| 25918826 | 2015 | Two promoter polymorphisms in TBX22 are associated with the risk of NSCLP in Indian women. | 2 |
| 22784330 | 2013 | X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. | 6 |
| 22784330 | 2013 | X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. | 6 |
| 21248356 | 2011 | Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations. | 14 |
| 21248356 | 2011 | Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations. | 14 |
| 20572854 | 2010 | MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. | 12 |
| 20672350 | 2010 | Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. | 25 |
| 20572854 | 2010 | MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. | 12 |
Citation
Dessen P
TBX22 (T-box transcription factor 22)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74554/
