GATA3 Chromosome 10
GATA binding protein 3
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What This Gene Does
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]
Gene Info
Gene Group
GATA zinc finger domain containing
Locus Type
gene with protein product
Location
10p14
Ensembl
ENSG00000107485
Associated Conditions (15)
Hypoparathyroidism
deafness
renal disease syndrome
Dominant congenital non-syndromic sensorineural hearing loss
GATA3-related disorder
Hearing impairment
Inborn genetic diseases
Neoplasm
Stage 5 chronic kidney disease
Familial cancer of breast
Congenital anomaly of kidney and urinary tract
See cases
Deafness
autosomal dominant
Monogenic hearing loss
Key Variants
RS104894162
Conflicting classifications of pathogenicity
Hypoparathyroidism, deafness, renal disease syndrome
Health Risk
RS143627754
Conflicting classifications of pathogenicity
Hypoparathyroidism, deafness, renal disease syndrome
Health Risk
RS148835259
Conflicting classifications of pathogenicity
Hypoparathyroidism, deafness, renal disease syndrome
Health Risk
RS1588383622
Conflicting classifications of pathogenicity
Dominant congenital non-syndromic sensorineural hearing loss, Dominant congenital non-syndromic sensorineural hearing loss
Health Risk
RS202045701
Conflicting classifications of pathogenicity
GATA3-related disorder, Hypoparathyroidism, deafness
Health Risk
RS2491485235
Conflicting classifications of pathogenicity
Hypoparathyroidism, deafness, renal disease syndrome
Health Risk
RS374919553
Conflicting classifications of pathogenicity
Hypoparathyroidism, deafness, renal disease syndrome
Health Risk
RS374947324
Conflicting classifications of pathogenicity
Hypoparathyroidism, deafness, renal disease syndrome
Health Risk
RS541782074
Conflicting classifications of pathogenicity
Hypoparathyroidism, deafness, renal disease syndrome
Health Risk
RS749900784
Conflicting classifications of pathogenicity
Hypoparathyroidism, deafness, renal disease syndrome
Health Risk
RS750735308
Conflicting classifications of pathogenicity
Hearing impairment, Hypoparathyroidism, deafness
Health Risk
RS766774125
Conflicting classifications of pathogenicity
Hypoparathyroidism, deafness, renal disease syndrome
Health Risk
All Variants (80)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2131500523 | Health Risk | Pathogenic | — |
| RS2131500629 | Health Risk | Pathogenic | — |
| RS2131501178 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS2131511647 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS2131511714 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS2491449631 | Health Risk | Pathogenic | — |
| RS2491459864 | Health Risk | Pathogenic | See cases, See cases |
| RS2491460045 | Health Risk | Pathogenic | — |
| RS2491460705 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS2491461227 | Health Risk | Pathogenic | — |
| RS2491461355 | Health Risk | Pathogenic | Deafness, autosomal dominant, Deafness |
| RS2491462423 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS2491463738 | Health Risk | Pathogenic | — |
| RS2491464339 | Health Risk | Pathogenic | — |
| RS2491464855 | Health Risk | Pathogenic | — |
| RS387906551 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS387906621 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS746122348 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS763236375 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS763575837 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS766098800 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS767074039 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS771019738 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS772396478 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS878853222 | Health Risk | Pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS104894164 | Health Risk | Pathogenic/Likely pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS1085307641 | Health Risk | Pathogenic/Likely pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS111283999 | Health Risk | Pathogenic/Likely pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS1588377948 | Health Risk | Pathogenic/Likely pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |
| RS2131501118 | Health Risk | Pathogenic/Likely pathogenic | Hypoparathyroidism, deafness, renal disease syndrome |