TBX10 Gene: T-Box Transcription Factor 10 - Function, Disease Associations, and Expression
A comprehensive overview of TBX10, a T-box family transcription factor, including genomic context, expression patterns, and clinical significance.
Gene Information Card
| Symbol | TBX10 |
|---|---|
| Full Name | T-box transcription factor 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q24.3 |
| NCBI Gene ID | 6888 ncbi.nlm.nih.gov/gene/6888 |
| Ensembl ID | ENSG00000167874 |
| UniProt ID | Q9H0N0 |
| OMIM ID | 604648 |
| HGNC ID | 11596 |
| Aliases | TBX10, T-box 10 |
Description
TBX10 (T-box transcription factor 10) is a member of the T-box family of transcription factors, characterized by a conserved DNA-binding domain known as the T-box. This gene is located on chromosome 11q24.3 and encodes a protein that plays a role in developmental processes, particularly in the regulation of gene expression during embryogenesis. TBX10 is involved in the development of various tissues, including the central nervous system and limbs. Mutations or dysregulation of TBX10 have been implicated in certain congenital disorders and cancers, although its specific roles are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital anomalies (e.g., cleft palate) | TBX10 may regulate genes involved in craniofacial development; disruption can lead to malformations. | Limited evidence from animal models and expression studies; no direct clinical association confirmed. |
| Cancer (potential) | Altered TBX10 expression may affect cell proliferation and differentiation pathways. | Expression data from COSMIC show somatic mutations in some cancer types, but functional significance is unclear. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | Not available | Not available |
| Lung | Not available | Not available |
| Kidney | Not available | Not available |
| Testis | Not available | Not available |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No data available | Not available | No cell line expression data found in public databases. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific variants reported | Not applicable | Not applicable | No clinically significant variants documented in ClinVar or COSMIC. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations have been characterized for TBX10.
Gain of Function (GOF)
No evidence of gain-of-function mutations in TBX10.
Dominant Negative (DN)
No dominant-negative effects reported for TBX10.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • regulation of transcription by RNA polymerase II | • nucleus |
| • embryonic development |
Pathways
• Not specifically curated in major pathway databases; likely involved in developmental signaling pathways.
Protein Summary
The TBX10 protein is a transcription factor containing a T-box DNA-binding domain. It binds to specific DNA sequences to regulate the expression of target genes involved in development. The protein is localized to the nucleus and is thought to play a role in pattern formation and tissue differentiation. Structural studies are limited, but the T-box domain is well-conserved across the family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBX10 Knockout HEK293 Cell Line | EDJ-KQ5888 | Human | 347853 | Details Get a Quote |
| TBX10 Knockout HeLa Cell Line | EDJ-KQ59830 | Human | 347853 | Details Get a Quote |
| TBX10 Knockout A-549 Cell Line | EDJ-KQ68296 | Human | 347853 | Details Get a Quote |
| TBX10 Knockout HCT 116 Cell Line | EDJ-KQ76670 | Human | 347853 | Details Get a Quote |
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