TBX4 Chromosome 17
T-box transcription factor 4
Upload your DNA to see your personal genotypes for variants in TBX4.
What This Gene Does
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
17q23.2
Ensembl
ENSG00000121075
Associated Conditions (12)
Pulmonary hypertension
primary
1
Coxopodopatellar syndrome
Inborn genetic diseases
Pulmonary arterial hypertension associated with congenital heart disease
Autosomal recessive amelia
Pulmonary arterial hypertension
TBX4-related disorder
Abnormality of prenatal development or birth
6 conditions
Primary pulmonary hypoplasia
Key Variants
RS146829316
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 1
Health Risk
RS147644451
Conflicting classifications of pathogenicity
Coxopodopatellar syndrome, Inborn genetic diseases, Coxopodopatellar syndrome
Health Risk
RS151058527
Conflicting classifications of pathogenicity
Coxopodopatellar syndrome, Inborn genetic diseases, Coxopodopatellar syndrome
Health Risk
RS151223901
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555883469
Conflicting classifications of pathogenicity
Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary arterial hypertension associated with congenital heart disease
Health Risk
RS200429513
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 1
Health Risk
RS2143820895
Conflicting classifications of pathogenicity
Coxopodopatellar syndrome, Pulmonary hypertension, primary
Health Risk
RS2143856758
Conflicting classifications of pathogenicity
Pulmonary hypertension, primary, 1
Health Risk
RS368363345
Conflicting classifications of pathogenicity
Coxopodopatellar syndrome, Coxopodopatellar syndrome
Health Risk
RS377571192
Conflicting classifications of pathogenicity
Coxopodopatellar syndrome, Inborn genetic diseases, Coxopodopatellar syndrome
Health Risk
RS1159276152
Likely pathogenic
Coxopodopatellar syndrome, Coxopodopatellar syndrome
Health Risk
RS1183527120
Likely pathogenic
Pulmonary hypertension, primary, 1
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2143860927 | Health Risk | Pathogenic | Coxopodopatellar syndrome, Coxopodopatellar syndrome |
| RS2143862827 | Health Risk | Pathogenic | — |
| RS2509555498 | Health Risk | Pathogenic | Coxopodopatellar syndrome, Coxopodopatellar syndrome |
| RS2509565244 | Health Risk | Pathogenic | — |
| RS2509565286 | Health Risk | Pathogenic | — |
| RS2509566765 | Health Risk | Pathogenic | — |
| RS2509567162 | Health Risk | Pathogenic | — |
| RS28936696 | Health Risk | Pathogenic | Coxopodopatellar syndrome, Coxopodopatellar syndrome |
| RS28938474 | Health Risk | Pathogenic | Coxopodopatellar syndrome, Coxopodopatellar syndrome |
| RS747369610 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS774711057 | Health Risk | Pathogenic | Pulmonary hypertension, primary, 1 |
| RS1428934331 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary hypertension, primary, 1 |
| RS1555883338 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary arterial hypertension associated with congenital heart disease |
| RS1555883342 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary hypertension, primary |
| RS1603256040 | Health Risk | Pathogenic/Likely pathogenic | Coxopodopatellar syndrome, Pulmonary hypertension, primary |
| RS2143795994 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary hypertension, primary, 1 |
| RS754897911 | Health Risk | Pathogenic/Likely pathogenic | Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary hypertension, primary |