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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TBX15
T-box transcription factor 15
Chromosome 1 Β· 1p12
NCBI Gene: 6913Ensembl: ENSG00000092607.15HGNC: HGNC:11594UniProt: Q8N8P2
32PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingprotein bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificpelviscapular dysplasiaAbnormality of the skeletal systemandrogenetic alopeciaosteoarthritis, knee
✦AI Summary

TBX15 is a T-box transcription factor primarily functioning as a developmental regulator of skeletal and craniofacial morphology 1. During embryogenesis, TBX15 is expressed in cranio-facial regions and developing limbs beginning at embryonic day 9.5 1. The gene controls mesenchymal precursor cell and chondrocyte numbers, with TBX15 knockout mice exhibiting significantly shorter faces, lower ear positioning, and reduced body/limb length 2. Beyond skeletal development, TBX15 regulates adipocyte differentiation and metabolic function. Overexpression impairs adipocyte differentiation and decreases mitochondrial respiration by 28% and ATP turnover by 45%, with 260-fold higher expression in subcutaneous versus visceral preadipocytes 3. Regulatory variants in TBX15 intron-1 affect both osteoporosis and obesity risk, with five SNPs showing identical trait-increasing alleles for both conditions 4. A deeply divergent haplotype in the TBX15/WARS2 region, likely introgressed from Denisovans, is under positive selection in Inuit populations and associates with altered TBX15 expression and DNA methylation 5. Clinically, TBX15 upregulation correlates with worse prognosis in gliomas through immunosuppressive mechanisms 6, while germline variants associate with Cousin syndrome. TBX15 remains implicated in craniofacial dysmorphology syndromes 1.

Sources cited
1
TBX15 is a T-box transcription factor expressed in cranio-facial regions and developing limbs during embryogenesis; human TBX15 maps to chromosome 1p13
PMID: 9693034
2
TBX15 knockout mice exhibit significantly shorter faces, lower ear positioning, reduced weight, and shorter body/limb length
PMID: 34938962
3
TBX15 overexpression impairs adipocyte differentiation, decreases mitochondrial mass by 15%, reduces mitochondrial respiration by 28%, and ATP turnover by 45%; expressed 260-fold higher in subcutaneous versus epididymal preadipocytes
PMID: 21282637
4
Regulatory SNPs in TBX15 intron-1 and upstream regions modulate TBX15 expression in subcutaneous adipose tissue and osteoblasts; five SNPs associate with both increased osteoporosis and obesity risk
PMID: 31975641
5
A deeply divergent TBX15 haplotype likely introgressed from Denisovans is under positive selection in Inuit populations and associates with altered TBX15 expression and DNA methylation in adipose tissue and adrenal gland
PMID: 28007980
6
TBX15 is upregulated in gliomas and associated with worse clinicopathological characteristics and poorer survival prognosis through links to immunosuppressive genes
PMID: 37328486
Disease Associationsβ“˜21
pelviscapular dysplasiaOpen Targets
0.75Strong
Abnormality of the skeletal systemOpen Targets
0.52Moderate
androgenetic alopeciaOpen Targets
0.49Moderate
osteoarthritis, kneeOpen Targets
0.45Moderate
osteoarthritis, hipOpen Targets
0.44Moderate
smoking behaviorOpen Targets
0.42Moderate
obstructive sleep apneaOpen Targets
0.39Weak
neurodegenerative diseaseOpen Targets
0.37Weak
lobe attachmentOpen Targets
0.32Weak
facial morphologyOpen Targets
0.32Weak
alopeciaOpen Targets
0.31Weak
medical procedureOpen Targets
0.30Weak
total knee arthroplastyOpen Targets
0.29Weak
total hip arthroplastyOpen Targets
0.27Weak
Blocked Eustachian tubeOpen Targets
0.24Weak
ulcerative colitisOpen Targets
0.24Weak
otosalpingitisOpen Targets
0.23Weak
obesityOpen Targets
0.23Weak
DysmetriaOpen Targets
0.22Weak
myeloproliferative disorderOpen Targets
0.22Weak
Cousin syndromeUniProt
Pathogenic Variants4
NM_001330677.2(TBX15):c.990del (p.Phe331fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 331
NM_001330677.2(TBX15):c.883C>T (p.Arg295Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 295
NM_001330677.2(TBX15):c.1348del (p.Ile450fs)Pathogenic
Pelviscapular dysplasia
β˜†β˜†β˜†β˜†2008β†’ Residue 450
NM_001330677.2(TBX15):c.1350del (p.Pro451fs)Pathogenic
Pelviscapular dysplasia
β˜†β˜†β˜†β˜†2008β†’ Residue 451
View on ClinVar β†—
Related Genes
TBX22Shared pathway100%WARS2Protein interaction74%TBX10Shared pathway50%MGAShared pathway50%TBX6Shared pathway33%TBX19Shared pathway25%
Tissue Expression6 tissues
Liver
100%
Brain
33%
Heart
11%
Lung
6%
Ovary
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TBX15TBX22WARS2TBX10MGATBX6TBX19
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8N8P2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.47Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.32 [0.22–0.47]
RankingsWhere TBX15 stands among ~20K protein-coding genes
  • #11,627of 20,598
    Most Researched32
  • #3,830of 5,498
    Most Pathogenic Variants4
  • #2,709of 17,882
    Most Constrained (LOEUF)0.47 Β· top quartile
Genes detectedTBX15
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol Β· 2024
1.00
2
The overexpression and clinical significance of TBX15 in human gliomas.
PMID: 37328486
Sci Rep Β· 2023
0.90
3
PMID: 33622874
In Vivo Β· 2021
0.80
4
Mesodermal developmental gene Tbx15 impairs adipocyte differentiation and mitochondrial respiration.
PMID: 21282637
Proc Natl Acad Sci U S A Β· 2011
0.70
5
Osteoporosis- and obesity-risk interrelationships: an epigenetic analysis of GWAS-derived SNPs at the developmental gene
PMID: 31975641
Epigenetics Β· 2020
0.60