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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TBX10
T-box transcription factor 10
Chromosome 11 · 11q13.2
NCBI Gene: 347853Ensembl: ENSG00000167800.10HGNC: HGNC:11593UniProt: O75333
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificcell fate specificationregulation of transcription by RNA polymerase IIankyloblepharon filiforme adnatum-cleft palate syndromeAnkyloblepharon filiforme adnatum - cleft palateAnkyloblepharon filiforme - imperforate anusankyloblepharon filiforme-imperforate anus syndrome
✦AI Summary

TBX10 is a T-box transcription factor that functions as a probable transcriptional regulator involved in developmental processes 1. It exhibits DNA-binding transcription factor activity specific to RNA polymerase II and plays critical roles in cell fate specification and anatomical structure morphogenesis through regulation of transcription. Developmentally, TBX10 mRNA expression is highly restricted with a unique spatio-temporal pattern during hindbrain development in mouse embryos 1. At the molecular level, TBX10 functions as a transcriptional regulator controlling morphogenetic processes essential for proper tissue formation. Clinically, TBX10 is strongly implicated in cleft lip and palate (CL/P) pathogenesis. Ectopic expression of Tbx10 in transgenic mice recapitulates cleft lip and palate phenotypes, demonstrating that gain-of-function mutations cause this common birth defect 2. Additionally, TBX10 has been identified as a candidate gene in chromosome 11, a region associated with multiple inherited developmental disorders 1. Population-based studies in Japanese cohorts examined TBX10 as a candidate gene for nonsyndromic CL/P 3. Furthermore, teratogenic exposures alter TBX10 expression patterns in developing mice, linking transcriptional changes to developmental abnormalities 4. Notably, TBX10 is also expressed in hematopoietic development and was identified as part of a lymphoid TBX-code signature 5, suggesting broader roles in tissue differentiation beyond orofacial development.

Sources cited
1
Ectopic expression of Tbx10 causes cleft lip and palate through gain-of-function mechanism
PMID: 15118109
2
TBX10 exhibits restricted, unique spatio-temporal expression during hindbrain development; maps to chromosome 11q13 associated with developmental disorders
PMID: 12915323
3
Teratogens alter TBX10 expression patterns; expression changes linked to teratogen-induced developmental phenotypes
PMID: 23649242
4
TBX10 identified as candidate gene for nonsyndromic cleft lip/palate in population-based genetic studies
PMID: 16247549
5
TBX10 is part of lymphoid TBX-code signature expressed in hematopoiesis and lymphopoiesis
PMID: 34807923
Disease Associationsⓘ20
Ankyloblepharon filiforme adnatum - cleft palateOpen Targets
0.09Suggestive
ankyloblepharon filiforme adnatum-cleft palate syndromeOpen Targets
0.09Suggestive
Ankyloblepharon filiforme - imperforate anusOpen Targets
0.07Suggestive
ankyloblepharon filiforme-imperforate anus syndromeOpen Targets
0.07Suggestive
orofacial cleft 10Open Targets
0.07Suggestive
orofacial cleft 1Open Targets
0.07Suggestive
orofacial cleft 5Open Targets
0.07Suggestive
orofacial cleft 11Open Targets
0.07Suggestive
familial median cleft of the upper and lower lipsOpen Targets
0.07Suggestive
van der Woude syndromeOpen Targets
0.07Suggestive
cleft palate-lateral synechia syndromeOpen Targets
0.07Suggestive
van der Woude syndrome 1Open Targets
0.07Suggestive
congenital laryngomalaciaOpen Targets
0.06Suggestive
bifid uvulaOpen Targets
0.06Suggestive
CDH1-related diffuse gastric and lobular breast cancer syndromeOpen Targets
0.06Suggestive
Familial gastric cancerOpen Targets
0.06Suggestive
anencephaly 2Open Targets
0.06Suggestive
Pai syndromeOpen Targets
0.06Suggestive
cleft palateOpen Targets
0.06Suggestive
Bencze syndromeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TBX6Shared pathway67%TBX19Shared pathway50%TBX22Shared pathway50%LBX1Shared pathway50%SCML2Shared pathway50%TBX15Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Ovary
7%
Lung
3%
Bone Marrow
0%
Heart
0%
Brain
0%
Gene Interaction Network
Click a node to explore
TBX10TBX6TBX19TBX22LBX1SCML2TBX15
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75333
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.56–1.07]
RankingsWhere TBX10 stands among ~20K protein-coding genes
  • #16,015of 20,598
    Most Researched14
  • #10,809of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedTBX10
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The cleft lip and palate defects in Dancer mutant mice result from gain of function of the Tbx10 gene.
PMID: 15118109
Proc Natl Acad Sci U S A · 2004
1.00
2
The T-box gene Tbx10 exhibits a uniquely restricted expression pattern during mouse embryogenesis.
PMID: 12915323
Gene Expr Patterns · 2003
0.90
3
Teratogenic factors affect transcription factor expression.
PMID: 23649242
Biosci Biotechnol Biochem · 2013
0.80
4
T-Box Genes and Developmental Gene Regulatory Networks in Ascidians.
PMID: 28057272
Curr Top Dev Biol · 2017
0.70
5
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.
PMID: 16247549
J Hum Genet · 2006
0.60