TBX22 Gene - T-Box Transcription Factor 22
Key regulator of craniofacial development; mutations cause X-linked cleft palate and ankyloglossia
Gene Information Card
| Symbol | TBX22 |
|---|---|
| Full Name | T-box transcription factor 22 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq21.1 |
| NCBI Gene ID | 50945 ncbi.nlm.nih.gov/gene/50945 |
| Ensembl ID | ENSG00000122145 |
| UniProt ID | Q9Y458 |
| OMIM ID | 300307 |
| HGNC ID | 11600 |
| Aliases | CPX, TBXX, dJ726C3.1 |
Description
TBX22 encodes a T-box transcription factor essential for palatogenesis and craniofacial development. It acts as a transcriptional repressor, regulating genes involved in cell proliferation and differentiation during palate formation. Loss-of-function mutations cause X-linked cleft palate with or without ankyloglossia (CPX).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cleft palate with or without ankyloglossia, X-linked (CPX) | Loss-of-function mutations in TBX22 disrupt transcriptional repression of target genes, impairing palatal shelf fusion. | OMIM #303400; ClinVar; multiple family studies |
| Ankyloglossia (tongue-tie) | Isolated or syndromic; TBX22 haploinsufficiency leads to abnormal lingual frenulum development. | OMIM #106280; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tongue | 12.5 | Medium |
| Salivary gland | 8.2 | Low |
| Esophagus | 6.1 | Low |
| Skin | 4.3 | Low |
| Brain (cerebellum) | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 5.0 | Hepatocellular carcinoma cell line |
| K562 | 2.1 | Chronic myeloid leukemia cell line |
| A549 | 1.8 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare (CPX families) | Loss of function; premature truncation |
| c.211G>A (p.Gly71Arg) | Missense | Rare | Loss of function; impaired DNA binding |
| c.382C>T (p.Arg128Trp) | Missense | Rare | Loss of function; reduced transcriptional repression |
| c.703C>T (p.Arg235*) | Nonsense | Rare | Loss of function; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Majority of TBX22 mutations; cause haploinsufficiency leading to CPX.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; X-linked recessive inheritance pattern.
View complete mutation data：
Gene Ontology (GO)
Pathways
• T-box transcription factor pathway (Reactome: R-HSA-5617472)
• Transcriptional regulation by TBX22 (GeneCards inferred)
Protein Summary
TBX22 is a 520-amino acid T-box transcription factor containing a conserved DNA-binding T-domain. It localizes to the nucleus and represses target gene transcription. Expressed in the developing palate, tongue, and mandible. Mutations cause X-linked cleft palate with or without ankyloglossia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBX22 Knockout HEK293 Cell Line | EDJ-KQ10854 | Human | 50945 | Details Get a Quote |
| TBX22 Knockout HeLa Cell Line | EDJ-KQ56205 | Human | 50945 | Details Get a Quote |
| TBX22 Knockout A-549 Cell Line | EDJ-KQ64695 | Human | 50945 | Details Get a Quote |
| TBX22 Knockout HCT 116 Cell Line | EDJ-KQ73142 | Human | 50945 | Details Get a Quote |
