GATA3 wt Allele

Preferred Label : GATA3 wt Allele;

NCIt synonyms : MGC5199; GATA Binding Protein 3 wt Allele; MGC5445; MGC2346; HDR; HDRS;

NCIt definition : Human GATA3 wild-type allele is located in the vicinity of 10p15 and is approximately 20 kb in length. This allele, which encodes trans-acting T-cell-specific transcription factor GATA-3 protein, is involved in the regulation of transcription. Mutation of the gene is associated with hypoparathyroidism with sensorineural deafness and renal dysplasia (Barakat syndrome).;

NCIt note : The product of the GATA3 gene binds to the enhancer region of both the T-cell receptor alpha and delta genes to the consensus sequence 5'-AGATAG-3'. (UniProt);

GenBank Accession Number : X55122;

Details

Origin ID

C75493;

UMLS CUI

C2700222;

OMIM relation
- Gata-binding protein 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Morphogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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