TBX15: T-Box Transcription Factor 15
A key regulator in skeletal development and mesodermal patterning, associated with Cousin syndrome and craniofacial abnormalities.
Gene Information Card
| Symbol | TBX15 |
|---|---|
| Full Name | T-Box Transcription Factor 15 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.1 |
| NCBI Gene ID | 6913 ncbi.nlm.nih.gov/gene/6913 |
| Ensembl ID | ENSG00000142611 |
| UniProt ID | Q96SF7 |
| OMIM ID | 604127 |
| HGNC ID | 11594 |
| Aliases | TBX15, TBX15_HUMAN, T-box 15 |
Description
TBX15 encodes a member of the T-box family of transcription factors, characterized by a conserved DNA-binding domain (T-box). This protein plays a critical role in mesodermal patterning and skeletal development, particularly in the formation of the scapula and vertebrae. Mutations in TBX15 are associated with Cousin syndrome, a rare autosomal recessive disorder characterized by craniofacial dysmorphism, skeletal anomalies, and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cousin syndrome | Loss-of-function mutations in TBX15 disrupt T-box DNA binding, impairing transcriptional regulation of target genes involved in mesodermal development. | OMIM #260660; ClinVar pathogenic variants |
| Craniofacial abnormalities | TBX15 haploinsufficiency or missense variants alter protein function, leading to abnormal skull and facial bone formation. | NCBI Gene; OMIM 604127 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 3.5 | Low expression |
| K562 | 1.2 | Not detected |
| HepG2 | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38*) | Nonsense | Rare (found in Cousin syndrome) | Loss of function; premature truncation of protein |
| c.421G>A (p.Gly141Arg) | Missense | Rare | Impaired DNA binding; reduced transcriptional activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish DNA binding and transcriptional activation, leading to Cousin syndrome.
Gain of Function (GOF)
Not reported in TBX15.
Dominant Negative (DN)
Not reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Developmental Biology (Reactome: R-HSA-1266738)
• Transcriptional regulation by T-box factors (Reactome: R-HSA-9733868)
Protein Summary
TBX15 is a 601-amino acid transcription factor containing a highly conserved T-box domain that binds to DNA sequences (T-box binding elements). It regulates gene expression during embryonic development, particularly in mesodermal tissues. The protein localizes to the nucleus and interacts with other transcription factors to control cell fate and morphogenesis. Structural studies indicate that the T-box domain forms a dimeric complex with DNA, essential for its regulatory function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBX15 Knockout HEK293 Cell Line | EDJ-KQ3568 | Human | 6913 | Details Get a Quote |
| TBX15 Knockout HeLa Cell Line | EDJ-KQ25437 | Human | 6913 | Details Get a Quote |
| TBX15 Knockout A-549 Cell Line | EDJ-KQ63100 | Human | 6913 | Details Get a Quote |
| TBX15 Knockout HCT 116 Cell Line | EDJ-KQ71574 | Human | 6913 | Details Get a Quote |
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