GATA-Binding Protein 3

Alternative Names

  • GATA3
  • Enhancer-Binding Protein GATA3
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OMIM Number

131320

NCBI Gene ID

2625

Uniprot ID

P23771

Length

29,824 bases

No. of Exons

8

No. of isoforms

2

Protein Name

Trans-Acting T-Cell-Specific Transcription Factor GATA-3

Molecular Mass

47916 Da

Amino Acid Count

443

Genomic Location

chr10:8,045,419-8,075,197

Gene Map Locus
10p14

Description

GATA3 is a member of the GATA family of dual zinc-finger transcription factors. This dual zinc finger transcription factor binds DNA with its C-terminal zinc finger (ZnF2) and stabilizes this binding with its N-terminal zinc finger (ZnF1). ZnF1 also interacts with other zinc finger proteins, notably Friend of GATA (FOG). The two zinc fingers of GATA3 are encoded by 2 separate exons highly conserved with those of GATA1.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001002295.1:c.35_36delUnited Arab EmiratesNC_000010.11:g.8055690_8055691delLikely PathogenicHypoparathyroidism, Sensorineural Deafness, and Renal DiseaseNG_015859.1:g.5987_5988del; NM_001002295.1:c.35_36del; NP_001002295.1:p.Ser12ThrfsTer40
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