GATA3 gene

GATA binding protein 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Barakat syndrome

From UniProt:

Hypoparathyroidism, sensorineural deafness, and renal disease (HDR): A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia. [MIM:146255]

Cytogenetic Location: 10p14, which is the short (p) arm of chromosome 10 at position 14

Molecular Location: base pairs 8,045,421 to 8,075,201 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10p14, which is the short (p) arm of chromosome 10 at position 14
  • HDR
  • HDRS