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GATA3
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs369421 | |||
| rs2388486 | |||
| rs409534 | |||
| rs1271899 | |||
| rs1269486 | |||
| rs7894006 | |||
| rs11567901 | |||
| rs1325423656 | |||
| rs143627754 | |||
| rs547425013 | |||
| rs548018172 | |||
| rs1206733500 | |||
| rs35945472 | |||
| rs754681447 | |||
| rs1264534479 | |||
| rs528778 | |||
| rs1149901 | |||
| rs1244183 | |||
| rs1244185 | |||
| rs1244186 |
Summary
This gene encodes a protein which belongs to the GATA family of transcription factors, which bind to enhancers of the T-cell receptor alpha and delta genes. They are an important regulator of T-cell development and T-helper 2 (Th2) differentiation process following immune and inflammatory responses and play an important role in endothelial cell function. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. Mutations have also been linked to arthritis.
Protein names
Found in These Blog Articles
GHR Function
Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5′-AGATAG-3′. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses.
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