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GATA3

GATA3

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

What is the official name of the GATA3 gene?

The official name of this gene is “GATA binding protein 3.”

GATA3 is the gene's official symbol. The GATA3 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the GATA3 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the GATA3 gene related to health conditions?

Genetics Home Reference provides information about rheumatoid arthritis, which is associated with changes in the GATA3 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the GATA3 gene's known or predicted involvement in human disease.

Hypoparathyroidism, sensorineural deafness, and renal disease (HDR): A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the GATA3 gene.
  • Barakat syndrome[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the GATA3 gene located?

Cytogenetic Location: 10p15

Molecular Location on chromosome 10: base pairs 8,045,472 to 8,075,200

The GATA3 gene is located on the short (p) arm of chromosome 10 at position 15.

The GATA3 gene is located on the short (p) arm of chromosome 10 at position 15.

More precisely, the GATA3 gene is located from base pair 8,045,472 to base pair 8,075,200 on chromosome 10.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about GATA3?

You and your healthcare professional may find the following resources about GATA3 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the GATA3 gene or gene products?

  • HDR
  • HDRS

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding GATA3?

cell ; consensus sequence ; differentiation ; dysplasia ; enhancer ; gene ; hypoparathyroidism ; protein ; receptor ; renal ; renal disease ; sensorineural ; syndrome ; transcription

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: September 29, 2014